Canonical Allele Identifier: CA345144523

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567314G>A (hg19) ; chr1:g.229431567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431567G>A , CM000663.2:g.229431567G>A	GRCh38
NC_000001.10:g.229567314G>A , CM000663.1:g.229567314G>A	GRCh37
NC_000001.9:g.227633937G>A	NCBI36
NG_006672.1:g.7530C>T , LRG_429:g.7530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-3C>T	ENSP00000355644.4:n.991-3C>T
ENST00000684723.1:c.931C>T	ENSP00000508084.1:p.Gln311Ter
ENST00000366683.3:c.697C>T	ENSP00000355644.3:p.Gln233Ter
ENST00000366684.7:c.1066C>T MANE Select	ENSP00000355645.3:p.Gln356Ter
NM_001100.3:c.1066C>T , LRG_429t1:c.1066C>T	NP_001091.1:p.Gln356Ter
NM_001100.4:c.1066C>T MANE Select	NP_001091.1:p.Gln356Ter