Canonical Allele Identifier: CA345145314

Gene: ACTA1

Linked Data

• dbSNP Id: rs1659940302
• gnomAD v4: 1-229431734-G-A
• MyVariant Identifiers: chr1:g.229567481G>A (hg19) ; chr1:g.229431734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431734G>A , CM000663.2:g.229431734G>A	GRCh38
NC_000001.10:g.229567481G>A , CM000663.1:g.229567481G>A	GRCh37
NC_000001.9:g.227634104G>A	NCBI36
NG_006672.1:g.7363C>T , LRG_429:g.7363C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.977C>T	ENSP00000355644.4:p.Thr326Ile
ENST00000684723.1:c.842C>T	ENSP00000508084.1:p.Thr281Ile
ENST00000366683.3:c.608C>T	ENSP00000355644.3:p.Thr203Ile
ENST00000366684.7:c.977C>T MANE Select	ENSP00000355645.3:p.Thr326Ile
NM_001100.3:c.977C>T , LRG_429t1:c.977C>T	NP_001091.1:p.Thr326Ile
NM_001100.4:c.977C>T MANE Select	NP_001091.1:p.Thr326Ile