ClinVar

NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108891361 (on Assembly GRCh38)
• Chr9: 111653641 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr)

HGVS:

• NC_000009.12:g.108891361A>G
• NG_008788.1:g.47968T>C
• NM_001318360.2:c.2660T>C
• NM_001330749.2:c.1955T>C
• NM_003640.5:c.3002T>CMANE SELECT
• NP_001305289.1:p.Met887Thr
• NP_001317678.1:p.Met652Thr
• NP_003631.2:p.Met1001Thr
• LRG_251t1:c.3002T>C
• LRG_251:g.47968T>C
• NC_000009.11:g.111653641A>G
• NC_000009.11:g.111653641A>G
• NM_003640.3:c.3002T>C

This HGVS expression did not pass validation

Protein change:

M1001T

Links:

dbSNP: rs144959233

NCBI 1000 Genomes Browser:

rs144959233

Molecular consequence:

• NM_001318360.2:c.2660T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330749.2:c.1955T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003640.5:c.3002T>C - missense variant - [Sequence Ontology: SO:0001583]