Canonical Allele Identifier: CA258134
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18282
dbSNP Id: rs121909522

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432393C>A , CM000663.2:g.229432393C>A GRCh38
NC_000001.10:g.229568140C>A , CM000663.1:g.229568140C>A GRCh37
NC_000001.9:g.227634763C>A NCBI36
NG_006672.1:g.6704G>T , LRG_429:g.6704G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.493G>T ENSP00000355644.4:p.Val165Leu
ENST00000684723.1:c.358G>T ENSP00000508084.1:p.Val120Leu
ENST00000366683.3:c.479+14G>T ENSP00000355644.3:n.479+14G>T
ENST00000366684.7:c.493G>T MANE Select ENSP00000355645.3:p.Val165Leu
NM_001100.3:c.493G>T , LRG_429t1:c.493G>T NP_001091.1:p.Val165Leu
NM_001100.4:c.493G>T MANE Select NP_001091.1:p.Val165Leu