Canonical Allele Identifier: CA345145168

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567466A>G (hg19) ; chr1:g.229431719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431719A>G , CM000663.2:g.229431719A>G	GRCh38
NC_000001.10:g.229567466A>G , CM000663.1:g.229567466A>G	GRCh37
NC_000001.9:g.227634089A>G	NCBI36
NG_006672.1:g.7378T>C , LRG_429:g.7378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.990+2T>C	ENSP00000355644.4:n.990+2T>C
ENST00000684723.1:c.855+2T>C	ENSP00000508084.1:n.855+2T>C
ENST00000366683.3:c.621+2T>C	ENSP00000355644.3:n.621+2T>C
ENST00000366684.7:c.990+2T>C MANE Select	ENSP00000355645.3:n.990+2T>C
NM_001100.3:c.990+2T>C , LRG_429t1:c.990+2T>C	NP_001091.1:n.990+2T>C
NM_001100.4:c.990+2T>C MANE Select	NP_001091.1:n.990+2T>C