Canonical Allele Identifier: CA1442832

Gene: ACTA1

Linked Data

• dbSNP Id: rs200705851
• ExAC: 1:229567997 G / A
• gnomAD v2: 1-229567997-G-A
• gnomAD v3: 1-229432250-G-A
• gnomAD v4: 1-229432250-G-A
• MyVariant Identifiers: chr1:g.229567997G>A (hg19) ; chr1:g.229432250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432250G>A , CM000663.2:g.229432250G>A	GRCh38
NC_000001.10:g.229567997G>A , CM000663.1:g.229567997G>A	GRCh37
NC_000001.9:g.227634620G>A	NCBI36
NG_006672.1:g.6847C>T , LRG_429:g.6847C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.616+20C>T	ENSP00000355644.4:n.616+20C>T
ENST00000684723.1:c.481+20C>T	ENSP00000508084.1:n.481+20C>T
ENST00000366683.3:c.479+157C>T	ENSP00000355644.3:n.479+157C>T
ENST00000366684.7:c.616+20C>T MANE Select	ENSP00000355645.3:n.616+20C>T
NM_001100.3:c.616+20C>T , LRG_429t1:c.616+20C>T	NP_001091.1:n.616+20C>T
NM_001100.4:c.616+20C>T MANE Select	NP_001091.1:n.616+20C>T