Canonical Allele Identifier: CA345145826

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567569C>A (hg19) ; chr1:g.229431822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431822C>A , CM000663.2:g.229431822C>A	GRCh38
NC_000001.10:g.229567569C>A , CM000663.1:g.229567569C>A	GRCh37
NC_000001.9:g.227634192C>A	NCBI36
NG_006672.1:g.7275G>T , LRG_429:g.7275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.889G>T	ENSP00000355644.4:p.Ala297Ser
ENST00000684723.1:c.754G>T	ENSP00000508084.1:p.Ala252Ser
ENST00000366683.3:c.520G>T	ENSP00000355644.3:p.Ala174Ser
ENST00000366684.7:c.889G>T MANE Select	ENSP00000355645.3:p.Ala297Ser
NM_001100.3:c.889G>T , LRG_429t1:c.889G>T	NP_001091.1:p.Ala297Ser
NM_001100.4:c.889G>T MANE Select	NP_001091.1:p.Ala297Ser