Canonical Allele Identifier: CA345144114

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567259C>A (hg19) ; chr1:g.229431512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431512C>A , CM000663.2:g.229431512C>A	GRCh38
NC_000001.10:g.229567259C>A , CM000663.1:g.229567259C>A	GRCh37
NC_000001.9:g.227633882C>A	NCBI36
NG_006672.1:g.7585G>T , LRG_429:g.7585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.1043G>T	ENSP00000355644.4:p.Arg348Leu
ENST00000684723.1:c.986G>T	ENSP00000508084.1:p.Arg329Leu
ENST00000366683.3:c.752G>T	ENSP00000355644.3:p.Arg251Leu
ENST00000366684.7:c.1121G>T MANE Select	ENSP00000355645.3:p.Arg374Leu
NM_001100.3:c.1121G>T , LRG_429t1:c.1121G>T	NP_001091.1:p.Arg374Leu
NM_001100.4:c.1121G>T MANE Select	NP_001091.1:p.Arg374Leu