Canonical Allele Identifier: CA1442780

Gene: ACTA1

Linked Data

• dbSNP Id: rs778943036
• ExAC: 1:229567680 A / C
• gnomAD v2: 1-229567680-A-C
• gnomAD v3: 1-229431933-A-C
• gnomAD v4: 1-229431933-A-C
• MyVariant Identifiers: chr1:g.229567680A>C (hg19) ; chr1:g.229431933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431933A>C , CM000663.2:g.229431933A>C	GRCh38
NC_000001.10:g.229567680A>C , CM000663.1:g.229567680A>C	GRCh37
NC_000001.9:g.227634303A>C	NCBI36
NG_006672.1:g.7164T>G , LRG_429:g.7164T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.809-31T>G	ENSP00000355644.4:n.809-31T>G
ENST00000684723.1:c.674-31T>G	ENSP00000508084.1:n.674-31T>G
ENST00000366683.3:c.480-71T>G	ENSP00000355644.3:n.480-71T>G
ENST00000366684.7:c.809-31T>G MANE Select	ENSP00000355645.3:n.809-31T>G
NM_001100.3:c.809-31T>G , LRG_429t1:c.809-31T>G	NP_001091.1:n.809-31T>G
NM_001100.4:c.809-31T>G MANE Select	NP_001091.1:n.809-31T>G