Canonical Allele Identifier: CA423754986

Gene: ACTA1

Linked Data

• dbSNP Id: rs200094415
• MyVariant Identifiers: chr1:g.229568084C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432337C>A , CM000663.2:g.229432337C>A	GRCh38
NC_000001.10:g.229568084C>A , CM000663.1:g.229568084C>A	GRCh37
NC_000001.9:g.227634707C>A	NCBI36
NG_006672.1:g.6760G>T , LRG_429:g.6760G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.549G>T	ENSP00000355644.4:p.Ala183=
ENST00000684723.1:c.414G>T	ENSP00000508084.1:p.Ala138=
ENST00000366683.3:c.479+70G>T	ENSP00000355644.3:n.479+70G>T
ENST00000366684.7:c.549G>T MANE Select	ENSP00000355645.3:p.Ala183=
NM_001100.3:c.549G>T , LRG_429t1:c.549G>T	NP_001091.1:p.Ala183=
NM_001100.4:c.549G>T MANE Select	NP_001091.1:p.Ala183=