Canonical Allele Identifier: CA345146376

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567739A>G (hg19) ; chr1:g.229431992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431992A>G , CM000663.2:g.229431992A>G	GRCh38
NC_000001.10:g.229567739A>G , CM000663.1:g.229567739A>G	GRCh37
NC_000001.9:g.227634362A>G	NCBI36
NG_006672.1:g.7105T>C , LRG_429:g.7105T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.808+2T>C	ENSP00000355644.4:n.808+2T>C
ENST00000684723.1:c.673+2T>C	ENSP00000508084.1:n.673+2T>C
ENST00000366683.3:c.480-130T>C	ENSP00000355644.3:n.480-130T>C
ENST00000366684.7:c.808+2T>C MANE Select	ENSP00000355645.3:n.808+2T>C
NM_001100.3:c.808+2T>C , LRG_429t1:c.808+2T>C	NP_001091.1:n.808+2T>C
NM_001100.4:c.808+2T>C MANE Select	NP_001091.1:n.808+2T>C