ClinVar

NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108893997 (on Assembly GRCh38)
• Chr9: 111656277 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)

HGVS:

• NC_000009.12:g.108893997T>C
• NG_008788.1:g.45332A>G
• NM_001318360.2:c.2464A>G
• NM_001330749.2:c.1759A>G
• NM_003640.5:c.2806A>GMANE SELECT
• NP_001305289.1:p.Ile822Val
• NP_001317678.1:p.Ile587Val
• NP_003631.2:p.Ile936Val
• LRG_251t1:c.2806A>G
• LRG_251:g.45332A>G
• NC_000009.11:g.111656277T>C
• NM_003640.3:c.2806A>G

This HGVS expression did not pass validation

Protein change:

I587V

Links:

dbSNP: rs1239561807

NCBI 1000 Genomes Browser:

rs1239561807

Molecular consequence:

• NM_001318360.2:c.2464A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330749.2:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003640.5:c.2806A>G - missense variant - [Sequence Ontology: SO:0001583]