Canonical Allele Identifier: CA423754988

Gene: ACTA1

Linked Data

• dbSNP Id: rs1320396129
• gnomAD v4: 1-229431787-G-A
• MyVariant Identifiers: chr1:g.229567534G>A (hg19) ; chr1:g.229431787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431787G>A , CM000663.2:g.229431787G>A	GRCh38
NC_000001.10:g.229567534G>A , CM000663.1:g.229567534G>A	GRCh37
NC_000001.9:g.227634157G>A	NCBI36
NG_006672.1:g.7310C>T , LRG_429:g.7310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.924C>T	ENSP00000355644.4:p.Tyr308=
ENST00000684723.1:c.789C>T	ENSP00000508084.1:p.Tyr263=
ENST00000366683.3:c.555C>T	ENSP00000355644.3:p.Tyr185=
ENST00000366684.7:c.924C>T MANE Select	ENSP00000355645.3:p.Tyr308=
NM_001100.3:c.924C>T , LRG_429t1:c.924C>T	NP_001091.1:p.Tyr308=
NM_001100.4:c.924C>T MANE Select	NP_001091.1:p.Tyr308=