Canonical Allele Identifier: CA732580526

Gene: ACTA1

Linked Data

• dbSNP Id: rs544387567
• MyVariant Identifiers: chr1:g.229567996G>A (hg19) ; chr1:g.229432249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432249G>A , CM000663.2:g.229432249G>A	GRCh38
NC_000001.10:g.229567996G>A , CM000663.1:g.229567996G>A	GRCh37
NC_000001.9:g.227634619G>A	NCBI36
NG_006672.1:g.6848C>T , LRG_429:g.6848C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.616+21C>T	ENSP00000355644.4:n.616+21C>T
ENST00000684723.1:c.481+21C>T	ENSP00000508084.1:n.481+21C>T
ENST00000366683.3:c.479+158C>T	ENSP00000355644.3:n.479+158C>T
ENST00000366684.7:c.616+21C>T MANE Select	ENSP00000355645.3:n.616+21C>T
NM_001100.3:c.616+21C>T , LRG_429t1:c.616+21C>T	NP_001091.1:n.616+21C>T
NM_001100.4:c.616+21C>T MANE Select	NP_001091.1:n.616+21C>T