Canonical Allele Identifier: CA341495

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431830T>A , CM000663.2:g.229431830T>A	GRCh38
NC_000001.10:g.229567577T>A , CM000663.1:g.229567577T>A	GRCh37
NC_000001.9:g.227634200T>A	NCBI36
NG_006672.1:g.7267A>T , LRG_429:g.7267A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001100.4:c.881A>T MANE Select	NP_001091.1:p.Asp294Val
ENST00000366684.7:c.881A>T MANE Select	ENSP00000355645.3:p.Asp294Val
NM_001100.3:c.881A>T , LRG_429t1:c.881A>T	NP_001091.1:p.Asp294Val
ENST00000366683.3:c.512A>T	ENSP00000355644.3:p.Asp171Val
ENST00000366683.4:c.881A>T	ENSP00000355644.4:p.Asp294Val
ENST00000684723.1:c.746A>T	ENSP00000508084.1:p.Asp249Val