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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs748164889

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:47482824 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000012 (3/251216, GnomAD_exome)
G=0.000007 (1/140234, GnomAD)
G=0.000008 (1/121230, ExAC) (+ 1 more)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CELF1 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 A=1.00000 G=0.00000
European Sub 6962 A=1.0000 G=0.0000
African Sub 2294 A=1.0000 G=0.0000
African Others Sub 84 A=1.00 G=0.00
African American Sub 2210 A=1.0000 G=0.0000
Asian Sub 108 A=1.000 G=0.000
East Asian Sub 84 A=1.00 G=0.00
Other Asian Sub 24 A=1.00 G=0.00
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 94 A=1.00 G=0.00
Other Sub 466 A=1.000 G=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251216 A=0.999988 G=0.000012
gnomAD - Exomes European Sub 135202 A=0.999978 G=0.000022
gnomAD - Exomes Asian Sub 48984 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34580 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16254 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6124 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140234 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75942 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42030 A=0.99998 G=0.00002
gnomAD - Genomes American Sub 13658 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2148 A=1.0000 G=0.0000
ExAC Global Study-wide 121230 A=0.999992 G=0.000008
ExAC Europe Sub 73280 A=0.99999 G=0.00001
ExAC Asian Sub 25112 A=1.00000 G=0.00000
ExAC American Sub 11536 A=1.00000 G=0.00000
ExAC African Sub 10394 A=1.00000 G=0.00000
ExAC Other Sub 908 A=1.000 G=0.000
Allele Frequency Aggregator Total Global 10680 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 G=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.47482824A>G
GRCh37.p13 chr 11 NC_000011.9:g.47504376A>G
Gene: CELF1, CUGBP Elav-like family member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CELF1 transcript variant 1 NM_006560.4:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_006551.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 6 NM_001330272.2:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001317201.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 59 NM_001376431.1:c.555T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 5 NP_001363360.1:p.Ala185= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 68 NM_001376440.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363369.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 47 NM_001376419.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363348.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 9 NM_001376371.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363300.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 62 NM_001376434.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363363.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 28 NM_001376390.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 9 NP_001363319.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 73 NM_001376445.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363374.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 65 NM_001376437.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363366.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 32 NM_001376396.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363325.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 75 NM_001376447.1:c.555T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 22 NP_001363376.1:p.Ala185= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 26 NM_001376388.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 9 NP_001363317.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 30 NM_001376393.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363322.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 60 NM_001376432.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 11 NP_001363361.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 33 NM_001376397.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363326.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 10 NM_001376372.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363301.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 43 NM_001376414.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363343.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 71 NM_001376443.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363372.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 67 NM_001376439.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363368.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 79 NM_001376451.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 13 NP_001363380.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 23 NM_001376385.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 8 NP_001363314.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 86 NM_001376458.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 18 NP_001363387.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 20 NM_001376382.1:c.636T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 24 NP_001363311.1:p.Ala212= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 17 NM_001376379.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 7 NP_001363308.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 76 NM_001376448.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363377.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 58 NM_001376430.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363359.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 2 NM_198700.3:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_941989.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 15 NM_001376377.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 7 NP_001363306.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 52 NM_001376424.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363353.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 42 NM_001376413.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363342.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 81 NM_001376453.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 15 NP_001363382.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 37 NM_001376408.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363337.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 88 NM_001376460.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 19 NP_001363389.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 7 NM_001376369.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363298.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 18 NM_001376380.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 7 NP_001363309.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 55 NM_001376427.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363356.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 91 NM_001376463.1:c.315T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 21 NP_001363392.1:p.Ala105= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 51 NM_001376423.1:c.555T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 23 NP_001363352.1:p.Ala185= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 22 NM_001376384.1:c.636T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 4 NP_001363313.1:p.Ala212= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 4 NM_001172639.2:c.636T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 4 NP_001166110.1:p.Ala212= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 31 NM_001376395.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363324.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 12 NM_001376374.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363303.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 3 NM_001025596.3:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001020767.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 90 NM_001376462.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 20 NP_001363391.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 84 NM_001376456.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 17 NP_001363385.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 78 NM_001376450.1:c.555T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 12 NP_001363379.1:p.Ala185= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 56 NM_001376428.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363357.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 61 NM_001376433.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 11 NP_001363362.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 83 NM_001376455.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 25 NP_001363384.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 8 NM_001376370.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363299.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 48 NM_001376420.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363349.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 82 NM_001376454.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 16 NP_001363383.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 27 NM_001376389.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 9 NP_001363318.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 44 NM_001376415.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363344.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 70 NM_001376442.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363371.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 11 NM_001376373.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363302.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 19 NM_001376381.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 7 NP_001363310.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 21 NM_001376383.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 7 NP_001363312.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 77 NM_001376449.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363378.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 50 NM_001376422.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363351.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 14 NM_001376376.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363305.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 16 NM_001376378.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 7 NP_001363307.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 38 NM_001376409.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363338.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 64 NM_001376436.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363365.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 74 NM_001376446.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363375.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 87 NM_001376459.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 19 NP_001363388.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 72 NM_001376444.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 1 NP_001363373.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 89 NM_001376461.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 20 NP_001363390.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 25 NM_001376387.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 9 NP_001363316.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 41 NM_001376412.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363341.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 49 NM_001376421.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363350.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 24 NM_001376386.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 8 NP_001363315.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 85 NM_001376457.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 17 NP_001363386.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 57 NM_001376429.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363358.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 46 NM_001376418.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363347.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 29 NM_001376391.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 9 NP_001363320.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 80 NM_001376452.1:c.555T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 14 NP_001363381.1:p.Ala185= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 40 NM_001376411.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363340.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 36 NM_001376407.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363336.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 63 NM_001376435.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363364.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 34 NM_001376399.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363328.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 5 NM_001172640.2:c.555T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 5 NP_001166111.1:p.Ala185= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 54 NM_001376426.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363355.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 53 NM_001376425.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363354.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 66 NM_001376438.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363367.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 45 NM_001376417.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 3 NP_001363346.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 69 NM_001376441.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 2 NP_001363370.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 35 NM_001376406.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363335.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 39 NM_001376410.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 10 NP_001363339.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant 13 NM_001376375.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform 6 NP_001363304.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X1 XM_047426267.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_047282223.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X2 XM_047426268.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_047282224.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X3 XM_047426269.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_047282225.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X4 XM_017017101.2:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_016872590.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X5 XM_047426270.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_047282226.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X6 XM_047426271.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_047282227.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X7 XM_047426272.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X1 XP_047282228.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X8 XM_047426273.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X2 XP_047282229.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X9 XM_047426274.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X3 XP_047282230.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X10 XM_047426275.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X3 XP_047282231.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X11 XM_047426276.1:c.639T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X4 XP_047282232.1:p.Ala213= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X12 XM_047426277.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282233.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X13 XM_047426278.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282234.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X14 XM_011519857.2:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_011518159.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X15 XM_047426279.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282235.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X16 XM_047426280.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282236.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X17 XM_047426281.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282237.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X18 XM_047426282.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282238.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X19 XM_047426283.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282239.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X20 XM_047426284.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X5 XP_047282240.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X21 XM_047426285.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X6 XP_047282241.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X22 XM_047426286.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X6 XP_047282242.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X23 XM_047426287.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X6 XP_047282243.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X24 XM_047426288.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X6 XP_047282244.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X25 XM_047426289.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X6 XP_047282245.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X26 XM_047426290.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X6 XP_047282246.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X27 XM_047426291.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X7 XP_047282247.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X28 XM_047426292.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X7 XP_047282248.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X29 XM_047426293.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X8 XP_047282249.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
CELF1 transcript variant X30 XM_047426294.1:c.558T>C A [GCT] > A [GCC] Coding Sequence Variant
CUGBP Elav-like family member 1 isoform X8 XP_047282250.1:p.Ala186= A (Ala) > A (Ala) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 11 NC_000011.10:g.47482824= NC_000011.10:g.47482824A>G
GRCh37.p13 chr 11 NC_000011.9:g.47504376= NC_000011.9:g.47504376A>G
CELF1 transcript variant 1 NM_006560.4:c.558= NM_006560.4:c.558T>C
CELF1 transcript variant 1 NM_006560.3:c.558= NM_006560.3:c.558T>C
CELF1 transcript variant 2 NM_198700.3:c.558= NM_198700.3:c.558T>C
CELF1 transcript variant 2 NM_198700.2:c.558= NM_198700.2:c.558T>C
CELF1 transcript variant 3 NM_001025596.3:c.558= NM_001025596.3:c.558T>C
CELF1 transcript variant 3 NM_001025596.2:c.558= NM_001025596.2:c.558T>C
CELF1 transcript variant X4 XM_017017101.2:c.639= XM_017017101.2:c.639T>C
CELF1 transcript variant X1 XM_017017101.1:c.639= XM_017017101.1:c.639T>C
CELF1 transcript variant 6 NM_001330272.2:c.639= NM_001330272.2:c.639T>C
CELF1 transcript variant 6 NM_001330272.1:c.639= NM_001330272.1:c.639T>C
CELF1 transcript variant X14 XM_011519857.2:c.558= XM_011519857.2:c.558T>C
CELF1 transcript variant X19 XM_011519857.1:c.558= XM_011519857.1:c.558T>C
CELF1 transcript variant 5 NM_001172640.2:c.555= NM_001172640.2:c.555T>C
CELF1 transcript variant 5 NM_001172640.1:c.555= NM_001172640.1:c.555T>C
CELF1 transcript variant 4 NM_001172639.2:c.636= NM_001172639.2:c.636T>C
CELF1 transcript variant 4 NM_001172639.1:c.636= NM_001172639.1:c.636T>C
CELF1 transcript variant X1 XM_047426267.1:c.639= XM_047426267.1:c.639T>C
CELF1 transcript variant X2 XM_047426268.1:c.639= XM_047426268.1:c.639T>C
CELF1 transcript variant X3 XM_047426269.1:c.639= XM_047426269.1:c.639T>C
CELF1 transcript variant X12 XM_047426277.1:c.558= XM_047426277.1:c.558T>C
CELF1 transcript variant X15 XM_047426279.1:c.558= XM_047426279.1:c.558T>C
CELF1 transcript variant X5 XM_047426270.1:c.639= XM_047426270.1:c.639T>C
CELF1 transcript variant X6 XM_047426271.1:c.639= XM_047426271.1:c.639T>C
CELF1 transcript variant X7 XM_047426272.1:c.639= XM_047426272.1:c.639T>C
CELF1 transcript variant 9 NM_001376371.1:c.639= NM_001376371.1:c.639T>C
CELF1 transcript variant 16 NM_001376378.1:c.639= NM_001376378.1:c.639T>C
CELF1 transcript variant 21 NM_001376383.1:c.639= NM_001376383.1:c.639T>C
CELF1 transcript variant 79 NM_001376451.1:c.639= NM_001376451.1:c.639T>C
CELF1 transcript variant 7 NM_001376369.1:c.639= NM_001376369.1:c.639T>C
CELF1 transcript variant 86 NM_001376458.1:c.558= NM_001376458.1:c.558T>C
CELF1 transcript variant 29 NM_001376391.1:c.639= NM_001376391.1:c.639T>C
CELF1 transcript variant 14 NM_001376376.1:c.639= NM_001376376.1:c.639T>C
CELF1 transcript variant 10 NM_001376372.1:c.639= NM_001376372.1:c.639T>C
CELF1 transcript variant 20 NM_001376382.1:c.636= NM_001376382.1:c.636T>C
CELF1 transcript variant 8 NM_001376370.1:c.639= NM_001376370.1:c.639T>C
CELF1 transcript variant 38 NM_001376409.1:c.558= NM_001376409.1:c.558T>C
CELF1 transcript variant 15 NM_001376377.1:c.639= NM_001376377.1:c.639T>C
CELF1 transcript variant 23 NM_001376385.1:c.639= NM_001376385.1:c.639T>C
CELF1 transcript variant 28 NM_001376390.1:c.639= NM_001376390.1:c.639T>C
CELF1 transcript variant 85 NM_001376457.1:c.558= NM_001376457.1:c.558T>C
CELF1 transcript variant 30 NM_001376393.1:c.558= NM_001376393.1:c.558T>C
CELF1 transcript variant 45 NM_001376417.1:c.558= NM_001376417.1:c.558T>C
CELF1 transcript variant 33 NM_001376397.1:c.558= NM_001376397.1:c.558T>C
CELF1 transcript variant 42 NM_001376413.1:c.558= NM_001376413.1:c.558T>C
CELF1 transcript variant 54 NM_001376426.1:c.558= NM_001376426.1:c.558T>C
CELF1 transcript variant 74 NM_001376446.1:c.558= NM_001376446.1:c.558T>C
CELF1 transcript variant X16 XM_047426280.1:c.558= XM_047426280.1:c.558T>C
CELF1 transcript variant 53 NM_001376425.1:c.558= NM_001376425.1:c.558T>C
CELF1 transcript variant 12 NM_001376374.1:c.639= NM_001376374.1:c.639T>C
CELF1 transcript variant 17 NM_001376379.1:c.639= NM_001376379.1:c.639T>C
CELF1 transcript variant 24 NM_001376386.1:c.639= NM_001376386.1:c.639T>C
CELF1 transcript variant 26 NM_001376388.1:c.639= NM_001376388.1:c.639T>C
CELF1 transcript variant 83 NM_001376455.1:c.639= NM_001376455.1:c.639T>C
CELF1 transcript variant X17 XM_047426281.1:c.558= XM_047426281.1:c.558T>C
CELF1 transcript variant 91 NM_001376463.1:c.315= NM_001376463.1:c.315T>C
CELF1 transcript variant 44 NM_001376415.1:c.558= NM_001376415.1:c.558T>C
CELF1 transcript variant 31 NM_001376395.1:c.558= NM_001376395.1:c.558T>C
CELF1 transcript variant 47 NM_001376419.1:c.558= NM_001376419.1:c.558T>C
CELF1 transcript variant 66 NM_001376438.1:c.558= NM_001376438.1:c.558T>C
CELF1 transcript variant 70 NM_001376442.1:c.558= NM_001376442.1:c.558T>C
CELF1 transcript variant 39 NM_001376410.1:c.558= NM_001376410.1:c.558T>C
CELF1 transcript variant 71 NM_001376443.1:c.558= NM_001376443.1:c.558T>C
CELF1 transcript variant 58 NM_001376430.1:c.558= NM_001376430.1:c.558T>C
CELF1 transcript variant 84 NM_001376456.1:c.558= NM_001376456.1:c.558T>C
CELF1 transcript variant 57 NM_001376429.1:c.558= NM_001376429.1:c.558T>C
CELF1 transcript variant 69 NM_001376441.1:c.558= NM_001376441.1:c.558T>C
CELF1 transcript variant 64 NM_001376436.1:c.558= NM_001376436.1:c.558T>C
CELF1 transcript variant 76 NM_001376448.1:c.558= NM_001376448.1:c.558T>C
CELF1 transcript variant 32 NM_001376396.1:c.558= NM_001376396.1:c.558T>C
CELF1 transcript variant 51 NM_001376423.1:c.555= NM_001376423.1:c.555T>C
CELF1 transcript variant 48 NM_001376420.1:c.558= NM_001376420.1:c.558T>C
CELF1 transcript variant 59 NM_001376431.1:c.555= NM_001376431.1:c.555T>C
CELF1 transcript variant 60 NM_001376432.1:c.558= NM_001376432.1:c.558T>C
CELF1 transcript variant 65 NM_001376437.1:c.558= NM_001376437.1:c.558T>C
CELF1 transcript variant 77 NM_001376449.1:c.558= NM_001376449.1:c.558T>C
CELF1 transcript variant 78 NM_001376450.1:c.555= NM_001376450.1:c.555T>C
CELF1 transcript variant X13 XM_047426278.1:c.558= XM_047426278.1:c.558T>C
CELF1 transcript variant 67 NM_001376439.1:c.558= NM_001376439.1:c.558T>C
CELF1 transcript variant 80 NM_001376452.1:c.555= NM_001376452.1:c.555T>C
CELF1 transcript variant X21 XM_047426285.1:c.558= XM_047426285.1:c.558T>C
CELF1 transcript variant 35 NM_001376406.1:c.558= NM_001376406.1:c.558T>C
CELF1 transcript variant 82 NM_001376454.1:c.558= NM_001376454.1:c.558T>C
CELF1 transcript variant 46 NM_001376418.1:c.558= NM_001376418.1:c.558T>C
CELF1 transcript variant 61 NM_001376433.1:c.558= NM_001376433.1:c.558T>C
CELF1 transcript variant 34 NM_001376399.1:c.558= NM_001376399.1:c.558T>C
CELF1 transcript variant 88 NM_001376460.1:c.558= NM_001376460.1:c.558T>C
CELF1 transcript variant 49 NM_001376421.1:c.558= NM_001376421.1:c.558T>C
CELF1 transcript variant X24 XM_047426288.1:c.558= XM_047426288.1:c.558T>C
CELF1 transcript variant 63 NM_001376435.1:c.558= NM_001376435.1:c.558T>C
CELF1 transcript variant 72 NM_001376444.1:c.558= NM_001376444.1:c.558T>C
CELF1 transcript variant X18 XM_047426282.1:c.558= XM_047426282.1:c.558T>C
CELF1 transcript variant X25 XM_047426289.1:c.558= XM_047426289.1:c.558T>C
CELF1 transcript variant X27 XM_047426291.1:c.558= XM_047426291.1:c.558T>C
CELF1 transcript variant 89 NM_001376461.1:c.558= NM_001376461.1:c.558T>C
CELF1 transcript variant 19 NM_001376381.1:c.639= NM_001376381.1:c.639T>C
CELF1 transcript variant 13 NM_001376375.1:c.639= NM_001376375.1:c.639T>C
CELF1 transcript variant 18 NM_001376380.1:c.639= NM_001376380.1:c.639T>C
CELF1 transcript variant X10 XM_047426275.1:c.639= XM_047426275.1:c.639T>C
CELF1 transcript variant 27 NM_001376389.1:c.639= NM_001376389.1:c.639T>C
CELF1 transcript variant 50 NM_001376422.1:c.558= NM_001376422.1:c.558T>C
CELF1 transcript variant 40 NM_001376411.1:c.558= NM_001376411.1:c.558T>C
CELF1 transcript variant 56 NM_001376428.1:c.558= NM_001376428.1:c.558T>C
CELF1 transcript variant 41 NM_001376412.1:c.558= NM_001376412.1:c.558T>C
CELF1 transcript variant 36 NM_001376407.1:c.558= NM_001376407.1:c.558T>C
CELF1 transcript variant 81 NM_001376453.1:c.639= NM_001376453.1:c.639T>C
CELF1 transcript variant 43 NM_001376414.1:c.558= NM_001376414.1:c.558T>C
CELF1 transcript variant 52 NM_001376424.1:c.558= NM_001376424.1:c.558T>C
CELF1 transcript variant 55 NM_001376427.1:c.558= NM_001376427.1:c.558T>C
CELF1 transcript variant 73 NM_001376445.1:c.558= NM_001376445.1:c.558T>C
CELF1 transcript variant X23 XM_047426287.1:c.558= XM_047426287.1:c.558T>C
CELF1 transcript variant X19 XM_047426283.1:c.558= XM_047426283.1:c.558T>C
CELF1 transcript variant 90 NM_001376462.1:c.558= NM_001376462.1:c.558T>C
CELF1 transcript variant 22 NM_001376384.1:c.636= NM_001376384.1:c.636T>C
CELF1 transcript variant 25 NM_001376387.1:c.639= NM_001376387.1:c.639T>C
CELF1 transcript variant 11 NM_001376373.1:c.639= NM_001376373.1:c.639T>C
CELF1 transcript variant X8 XM_047426273.1:c.639= XM_047426273.1:c.639T>C
CELF1 transcript variant X9 XM_047426274.1:c.639= XM_047426274.1:c.639T>C
CELF1 transcript variant X11 XM_047426276.1:c.639= XM_047426276.1:c.639T>C
CELF1 transcript variant 68 NM_001376440.1:c.558= NM_001376440.1:c.558T>C
CELF1 transcript variant 37 NM_001376408.1:c.558= NM_001376408.1:c.558T>C
CELF1 transcript variant 62 NM_001376434.1:c.558= NM_001376434.1:c.558T>C
CELF1 transcript variant 75 NM_001376447.1:c.555= NM_001376447.1:c.555T>C
CELF1 transcript variant X22 XM_047426286.1:c.558= XM_047426286.1:c.558T>C
CELF1 transcript variant X29 XM_047426293.1:c.558= XM_047426293.1:c.558T>C
CELF1 transcript variant X20 XM_047426284.1:c.558= XM_047426284.1:c.558T>C
CELF1 transcript variant X26 XM_047426290.1:c.558= XM_047426290.1:c.558T>C
CELF1 transcript variant X28 XM_047426292.1:c.558= XM_047426292.1:c.558T>C
CELF1 transcript variant X30 XM_047426294.1:c.558= XM_047426294.1:c.558T>C
CELF1 transcript variant 87 NM_001376459.1:c.558= NM_001376459.1:c.558T>C
CUGBP Elav-like family member 1 isoform 1 NP_006551.1:p.Ala186= NP_006551.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_941989.1:p.Ala186= NP_941989.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001020767.1:p.Ala186= NP_001020767.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X1 XP_016872590.1:p.Ala213= XP_016872590.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001317201.1:p.Ala213= NP_001317201.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X5 XP_011518159.1:p.Ala186= XP_011518159.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 5 NP_001166111.1:p.Ala185= NP_001166111.1:p.Ala185=
CUGBP Elav-like family member 1 isoform 4 NP_001166110.1:p.Ala212= NP_001166110.1:p.Ala212=
CUGBP Elav-like family member 1 isoform X1 XP_047282223.1:p.Ala213= XP_047282223.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X1 XP_047282224.1:p.Ala213= XP_047282224.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X1 XP_047282225.1:p.Ala213= XP_047282225.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X5 XP_047282233.1:p.Ala186= XP_047282233.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X5 XP_047282235.1:p.Ala186= XP_047282235.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X1 XP_047282226.1:p.Ala213= XP_047282226.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X1 XP_047282227.1:p.Ala213= XP_047282227.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X1 XP_047282228.1:p.Ala213= XP_047282228.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001363300.1:p.Ala213= NP_001363300.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 7 NP_001363307.1:p.Ala213= NP_001363307.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 7 NP_001363312.1:p.Ala213= NP_001363312.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 13 NP_001363380.1:p.Ala213= NP_001363380.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001363298.1:p.Ala213= NP_001363298.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 18 NP_001363387.1:p.Ala186= NP_001363387.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 9 NP_001363320.1:p.Ala213= NP_001363320.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001363305.1:p.Ala213= NP_001363305.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001363301.1:p.Ala213= NP_001363301.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 24 NP_001363311.1:p.Ala212= NP_001363311.1:p.Ala212=
CUGBP Elav-like family member 1 isoform 6 NP_001363299.1:p.Ala213= NP_001363299.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 10 NP_001363338.1:p.Ala186= NP_001363338.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 7 NP_001363306.1:p.Ala213= NP_001363306.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 8 NP_001363314.1:p.Ala213= NP_001363314.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 9 NP_001363319.1:p.Ala213= NP_001363319.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 17 NP_001363386.1:p.Ala186= NP_001363386.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363322.1:p.Ala186= NP_001363322.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363346.1:p.Ala186= NP_001363346.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363326.1:p.Ala186= NP_001363326.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363342.1:p.Ala186= NP_001363342.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363355.1:p.Ala186= NP_001363355.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363375.1:p.Ala186= NP_001363375.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X5 XP_047282236.1:p.Ala186= XP_047282236.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363354.1:p.Ala186= NP_001363354.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 6 NP_001363303.1:p.Ala213= NP_001363303.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 7 NP_001363308.1:p.Ala213= NP_001363308.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 8 NP_001363315.1:p.Ala213= NP_001363315.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 9 NP_001363317.1:p.Ala213= NP_001363317.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 25 NP_001363384.1:p.Ala213= NP_001363384.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X5 XP_047282237.1:p.Ala186= XP_047282237.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 21 NP_001363392.1:p.Ala105= NP_001363392.1:p.Ala105=
CUGBP Elav-like family member 1 isoform 3 NP_001363344.1:p.Ala186= NP_001363344.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363324.1:p.Ala186= NP_001363324.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363348.1:p.Ala186= NP_001363348.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363367.1:p.Ala186= NP_001363367.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363371.1:p.Ala186= NP_001363371.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363339.1:p.Ala186= NP_001363339.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363372.1:p.Ala186= NP_001363372.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363359.1:p.Ala186= NP_001363359.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 17 NP_001363385.1:p.Ala186= NP_001363385.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363358.1:p.Ala186= NP_001363358.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363370.1:p.Ala186= NP_001363370.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363365.1:p.Ala186= NP_001363365.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363377.1:p.Ala186= NP_001363377.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363325.1:p.Ala186= NP_001363325.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 23 NP_001363352.1:p.Ala185= NP_001363352.1:p.Ala185=
CUGBP Elav-like family member 1 isoform 3 NP_001363349.1:p.Ala186= NP_001363349.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 5 NP_001363360.1:p.Ala185= NP_001363360.1:p.Ala185=
CUGBP Elav-like family member 1 isoform 11 NP_001363361.1:p.Ala186= NP_001363361.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363366.1:p.Ala186= NP_001363366.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363378.1:p.Ala186= NP_001363378.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 12 NP_001363379.1:p.Ala185= NP_001363379.1:p.Ala185=
CUGBP Elav-like family member 1 isoform X5 XP_047282234.1:p.Ala186= XP_047282234.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363368.1:p.Ala186= NP_001363368.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 14 NP_001363381.1:p.Ala185= NP_001363381.1:p.Ala185=
CUGBP Elav-like family member 1 isoform X6 XP_047282241.1:p.Ala186= XP_047282241.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363335.1:p.Ala186= NP_001363335.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 16 NP_001363383.1:p.Ala186= NP_001363383.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363347.1:p.Ala186= NP_001363347.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 11 NP_001363362.1:p.Ala186= NP_001363362.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363328.1:p.Ala186= NP_001363328.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 19 NP_001363389.1:p.Ala186= NP_001363389.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363350.1:p.Ala186= NP_001363350.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X6 XP_047282244.1:p.Ala186= XP_047282244.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363364.1:p.Ala186= NP_001363364.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363373.1:p.Ala186= NP_001363373.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X5 XP_047282238.1:p.Ala186= XP_047282238.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X6 XP_047282245.1:p.Ala186= XP_047282245.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X7 XP_047282247.1:p.Ala186= XP_047282247.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 20 NP_001363390.1:p.Ala186= NP_001363390.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 7 NP_001363310.1:p.Ala213= NP_001363310.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001363304.1:p.Ala213= NP_001363304.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 7 NP_001363309.1:p.Ala213= NP_001363309.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X3 XP_047282231.1:p.Ala213= XP_047282231.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 9 NP_001363318.1:p.Ala213= NP_001363318.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 3 NP_001363351.1:p.Ala186= NP_001363351.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363340.1:p.Ala186= NP_001363340.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363357.1:p.Ala186= NP_001363357.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363341.1:p.Ala186= NP_001363341.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363336.1:p.Ala186= NP_001363336.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 15 NP_001363382.1:p.Ala213= NP_001363382.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 10 NP_001363343.1:p.Ala186= NP_001363343.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363353.1:p.Ala186= NP_001363353.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 3 NP_001363356.1:p.Ala186= NP_001363356.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 1 NP_001363374.1:p.Ala186= NP_001363374.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X6 XP_047282243.1:p.Ala186= XP_047282243.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X5 XP_047282239.1:p.Ala186= XP_047282239.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 20 NP_001363391.1:p.Ala186= NP_001363391.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 4 NP_001363313.1:p.Ala212= NP_001363313.1:p.Ala212=
CUGBP Elav-like family member 1 isoform 9 NP_001363316.1:p.Ala213= NP_001363316.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 6 NP_001363302.1:p.Ala213= NP_001363302.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X2 XP_047282229.1:p.Ala213= XP_047282229.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X3 XP_047282230.1:p.Ala213= XP_047282230.1:p.Ala213=
CUGBP Elav-like family member 1 isoform X4 XP_047282232.1:p.Ala213= XP_047282232.1:p.Ala213=
CUGBP Elav-like family member 1 isoform 2 NP_001363369.1:p.Ala186= NP_001363369.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 10 NP_001363337.1:p.Ala186= NP_001363337.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 2 NP_001363363.1:p.Ala186= NP_001363363.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 22 NP_001363376.1:p.Ala185= NP_001363376.1:p.Ala185=
CUGBP Elav-like family member 1 isoform X6 XP_047282242.1:p.Ala186= XP_047282242.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X8 XP_047282249.1:p.Ala186= XP_047282249.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X5 XP_047282240.1:p.Ala186= XP_047282240.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X6 XP_047282246.1:p.Ala186= XP_047282246.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X7 XP_047282248.1:p.Ala186= XP_047282248.1:p.Ala186=
CUGBP Elav-like family member 1 isoform X8 XP_047282250.1:p.Ala186= XP_047282250.1:p.Ala186=
CUGBP Elav-like family member 1 isoform 19 NP_001363388.1:p.Ala186= NP_001363388.1:p.Ala186=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690351172 Apr 01, 2015 (144)
2 GNOMAD ss2738944122 Nov 08, 2017 (151)
3 GNOMAD ss4234615299 Apr 27, 2021 (155)
4 ExAC NC_000011.9 - 47504376 Oct 12, 2018 (152)
5 gnomAD - Genomes NC_000011.10 - 47482824 Apr 27, 2021 (155)
6 gnomAD - Exomes NC_000011.9 - 47504376 Jul 13, 2019 (153)
7 ALFA NC_000011.10 - 47482824 Apr 27, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
606090, 8157076, ss1690351172, ss2738944122 NC_000011.9:47504375:A:G NC_000011.10:47482823:A:G (self)
378944029, 12391362305, ss4234615299 NC_000011.10:47482823:A:G NC_000011.10:47482823:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs748164889

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07