Canonical Allele Identifier: CA423755152

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432109-C-A
• MyVariant Identifiers: chr1:g.229567856C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432109C>A , CM000663.2:g.229432109C>A	GRCh38
NC_000001.10:g.229567856C>A , CM000663.1:g.229567856C>A	GRCh37
NC_000001.9:g.227634479C>A	NCBI36
NG_006672.1:g.6988G>T , LRG_429:g.6988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.693G>T	ENSP00000355644.4:p.Thr231=
ENST00000684723.1:c.558G>T	ENSP00000508084.1:p.Thr186=
ENST00000366683.3:c.480-247G>T	ENSP00000355644.3:n.480-247G>T
ENST00000366684.7:c.693G>T MANE Select	ENSP00000355645.3:p.Thr231=
NM_001100.3:c.693G>T , LRG_429t1:c.693G>T	NP_001091.1:p.Thr231=
NM_001100.4:c.693G>T MANE Select	NP_001091.1:p.Thr231=