Canonical Allele Identifier: CA423754861

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567567G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431820G>A , CM000663.2:g.229431820G>A	GRCh38
NC_000001.10:g.229567567G>A , CM000663.1:g.229567567G>A	GRCh37
NC_000001.9:g.227634190G>A	NCBI36
NG_006672.1:g.7277C>T , LRG_429:g.7277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.891C>T	ENSP00000355644.4:p.Ala297=
ENST00000684723.1:c.756C>T	ENSP00000508084.1:p.Ala252=
ENST00000366683.3:c.522C>T	ENSP00000355644.3:p.Ala174=
ENST00000366684.7:c.891C>T MANE Select	ENSP00000355645.3:p.Ala297=
NM_001100.3:c.891C>T , LRG_429t1:c.891C>T	NP_001091.1:p.Ala297=
NM_001100.4:c.891C>T MANE Select	NP_001091.1:p.Ala297=