Canonical Allele Identifier: CA345146741

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567807G>A (hg19) ; chr1:g.229432060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432060G>A , CM000663.2:g.229432060G>A	GRCh38
NC_000001.10:g.229567807G>A , CM000663.1:g.229567807G>A	GRCh37
NC_000001.9:g.227634430G>A	NCBI36
NG_006672.1:g.7037C>T , LRG_429:g.7037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.742C>T	ENSP00000355644.4:p.Gln248Ter
ENST00000684723.1:c.607C>T	ENSP00000508084.1:p.Gln203Ter
ENST00000366683.3:c.480-198C>T	ENSP00000355644.3:n.480-198C>T
ENST00000366684.7:c.742C>T MANE Select	ENSP00000355645.3:p.Gln248Ter
NM_001100.3:c.742C>T , LRG_429t1:c.742C>T	NP_001091.1:p.Gln248Ter
NM_001100.4:c.742C>T MANE Select	NP_001091.1:p.Gln248Ter