ClinVar

NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp)

Gene:

ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108891284 (on Assembly GRCh38)
• Chr9: 111653564 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp)

HGVS:

• NC_000009.12:g.108891284T>C
• NG_008788.1:g.48045A>G
• NM_001318360.2:c.2737A>G
• NM_001330749.2:c.2032A>G
• NM_003640.5:c.3079A>GMANE SELECT
• NP_001305289.1:p.Asn913Asp
• NP_001317678.1:p.Asn678Asp
• NP_003631.2:p.Asn1027Asp
• LRG_251t1:c.3079A>G
• LRG_251:g.48045A>G
• NC_000009.11:g.111653564T>C
• NC_000009.11:g.111653564T>C
• NM_003640.3:c.3079A>G

This HGVS expression did not pass validation

Protein change:

N1027D

Links:

dbSNP: rs778943416

NCBI 1000 Genomes Browser:

rs778943416

Molecular consequence:

• NM_001318360.2:c.2737A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330749.2:c.2032A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003640.5:c.3079A>G - missense variant - [Sequence Ontology: SO:0001583]