Canonical Allele Identifier: CA10588284
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265457
dbSNP Id: rs886039557

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432580G>A , CM000663.2:g.229432580G>A GRCh38
NC_000001.10:g.229568327G>A , CM000663.1:g.229568327G>A GRCh37
NC_000001.9:g.227634950G>A NCBI36
NG_006672.1:g.6517C>T , LRG_429:g.6517C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.430C>T ENSP00000355644.4:p.Leu144Phe
ENST00000684723.1:c.295C>T ENSP00000508084.1:p.Leu99Phe
ENST00000366683.3:c.430C>T ENSP00000355644.3:p.Leu144Phe
ENST00000366684.7:c.430C>T MANE Select ENSP00000355645.3:p.Leu144Phe
NM_001100.3:c.430C>T , LRG_429t1:c.430C>T NP_001091.1:p.Leu144Phe
NM_001100.4:c.430C>T MANE Select NP_001091.1:p.Leu144Phe