Canonical Allele Identifier: CA1442937

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229433008G>A , CM000663.2:g.229433008G>A	GRCh38
NC_000001.10:g.229568755G>A , CM000663.1:g.229568755G>A	GRCh37
NC_000001.9:g.227635378G>A	NCBI36
NG_006672.1:g.6089C>T , LRG_429:g.6089C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001100.4:c.108C>T MANE Select	NP_001091.1:p.Ile36=
ENST00000366684.7:c.108C>T MANE Select	ENSP00000355645.3:p.Ile36=
NM_001100.3:c.108C>T , LRG_429t1:c.108C>T	NP_001091.1:p.Ile36=
ENST00000366683.3:c.108C>T	ENSP00000355644.3:p.Ile36=
ENST00000366683.4:c.108C>T	ENSP00000355644.4:p.Ile36=
ENST00000684723.1:c.-6-128C>T	ENSP00000508084.1:n.-6-128C>T