Canonical Allele Identifier: CA345145750

Gene: ACTA1

Linked Data

• dbSNP Id: rs1571892620
• MyVariant Identifiers: chr1:g.229567557T>G (hg19) ; chr1:g.229431810T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431810T>G , CM000663.2:g.229431810T>G	GRCh38
NC_000001.10:g.229567557T>G , CM000663.1:g.229567557T>G	GRCh37
NC_000001.9:g.227634180T>G	NCBI36
NG_006672.1:g.7287A>C , LRG_429:g.7287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.901A>C	ENSP00000355644.4:p.Met301Leu
ENST00000684723.1:c.766A>C	ENSP00000508084.1:p.Met256Leu
ENST00000366683.3:c.532A>C	ENSP00000355644.3:p.Met178Leu
ENST00000366684.7:c.901A>C MANE Select	ENSP00000355645.3:p.Met301Leu
NM_001100.3:c.901A>C , LRG_429t1:c.901A>C	NP_001091.1:p.Met301Leu
NM_001100.4:c.901A>C MANE Select	NP_001091.1:p.Met301Leu