ClinVar

NM_003640.5(ELP1):c.2631C>T (p.Ala877=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108896601 (on Assembly GRCh38)
• Chr9: 111658881 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.2631C>T (p.Ala877=)

HGVS:

• NC_000009.12:g.108896601G>A
• NG_008788.1:g.42728C>T
• NM_001318360.2:c.2289C>T
• NM_001330749.2:c.1584C>T
• NM_003640.5:c.2631C>TMANE SELECT
• NP_001305289.1:p.Ala763=
• NP_001317678.1:p.Ala528=
• NP_003631.2:p.Ala877=
• LRG_251t1:c.2631C>T
• LRG_251:g.42728C>T
• NC_000009.11:g.111658881G>A
• NM_003640.3:c.2631C>T
• NM_003640.4:c.2631C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138023874

NCBI 1000 Genomes Browser:

rs138023874

Molecular consequence:

• NM_001318360.2:c.2289C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330749.2:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003640.5:c.2631C>T - synonymous variant - [Sequence Ontology: SO:0001819]