ClinVar

NM_003640.5(ELP1):c.2025C>T (p.Ala675=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 108900365 (on Assembly GRCh38)
• Chr9: 111662645 (on Assembly GRCh37)

Preferred name:

NM_003640.5(ELP1):c.2025C>T (p.Ala675=)

HGVS:

• NC_000009.12:g.108900365G>A
• NG_008788.1:g.38964C>T
• NM_001318360.2:c.1683C>T
• NM_001330749.2:c.978C>T
• NM_003640.5:c.2025C>TMANE SELECT
• NP_001305289.1:p.Ala561=
• NP_001317678.1:p.Ala326=
• NP_003631.2:p.Ala675=
• LRG_251t1:c.2025C>T
• LRG_251:g.38964C>T
• NC_000009.11:g.111662645G>A
• NM_003640.3:c.2025C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200532312

NCBI 1000 Genomes Browser:

rs200532312

Molecular consequence:

• NM_001318360.2:c.1683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330749.2:c.978C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003640.5:c.2025C>T - synonymous variant - [Sequence Ontology: SO:0001819]