Canonical Allele Identifier: CA341497
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18290
ClinVar RCV Id: RCV000019952
dbSNP Id: rs121909530

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432134A>G , CM000663.2:g.229432134A>G GRCh38
NC_000001.10:g.229567881A>G , CM000663.1:g.229567881A>G GRCh37
NC_000001.9:g.227634504A>G NCBI36
NG_006672.1:g.6963T>C , LRG_429:g.6963T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.668T>C ENSP00000355644.4:p.Leu223Pro
ENST00000684723.1:c.533T>C ENSP00000508084.1:p.Leu178Pro
ENST00000366683.3:c.480-272T>C ENSP00000355644.3:n.480-272T>C
ENST00000366684.7:c.668T>C MANE Select ENSP00000355645.3:p.Leu223Pro
NM_001100.3:c.668T>C , LRG_429t1:c.668T>C NP_001091.1:p.Leu223Pro
NM_001100.4:c.668T>C MANE Select NP_001091.1:p.Leu223Pro