Canonical Allele Identifier: CA345148779

Gene: ACTA1

Linked Data

• dbSNP Id: rs1571893385
• gnomAD v4: 1-229432406-G-A
• MyVariant Identifiers: chr1:g.229568153G>A (hg19) ; chr1:g.229432406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432406G>A , CM000663.2:g.229432406G>A	GRCh38
NC_000001.10:g.229568153G>A , CM000663.1:g.229568153G>A	GRCh37
NC_000001.9:g.227634776G>A	NCBI36
NG_006672.1:g.6691C>T , LRG_429:g.6691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.480C>T	ENSP00000355644.4:p.Gly160=
ENST00000684723.1:c.345C>T	ENSP00000508084.1:p.Gly115=
ENST00000366683.3:c.479+1C>T	ENSP00000355644.3:n.479+1C>T
ENST00000366684.7:c.480C>T MANE Select	ENSP00000355645.3:p.Gly160=
NM_001100.3:c.480C>T , LRG_429t1:c.480C>T	NP_001091.1:p.Gly160=
NM_001100.4:c.480C>T MANE Select	NP_001091.1:p.Gly160=