Canonical Allele Identifier: CA423754811

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567321G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431574G>A , CM000663.2:g.229431574G>A	GRCh38
NC_000001.10:g.229567321G>A , CM000663.1:g.229567321G>A	GRCh37
NC_000001.9:g.227633944G>A	NCBI36
NG_006672.1:g.7523C>T , LRG_429:g.7523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-10C>T	ENSP00000355644.4:n.991-10C>T
ENST00000684723.1:c.924C>T	ENSP00000508084.1:p.Thr308=
ENST00000366683.3:c.690C>T	ENSP00000355644.3:p.Thr230=
ENST00000366684.7:c.1059C>T MANE Select	ENSP00000355645.3:p.Thr353=
NM_001100.3:c.1059C>T , LRG_429t1:c.1059C>T	NP_001091.1:p.Thr353=
NM_001100.4:c.1059C>T MANE Select	NP_001091.1:p.Thr353=