Canonical Allele Identifier: CA1442846

Gene: ACTA1

Linked Data

• dbSNP Id: rs778261678
• ExAC: 1:229568111 C / T
• gnomAD v2: 1-229568111-C-T
• gnomAD v3: 1-229432364-C-T
• gnomAD v4: 1-229432364-C-T
• COSMIC: COSM3804267
• MyVariant Identifiers: chr1:g.229568111C>T (hg19) ; chr1:g.229432364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432364C>T , CM000663.2:g.229432364C>T	GRCh38
NC_000001.10:g.229568111C>T , CM000663.1:g.229568111C>T	GRCh37
NC_000001.9:g.227634734C>T	NCBI36
NG_006672.1:g.6733G>A , LRG_429:g.6733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.522G>A	ENSP00000355644.4:p.Pro174=
ENST00000684723.1:c.387G>A	ENSP00000508084.1:p.Pro129=
ENST00000366683.3:c.479+43G>A	ENSP00000355644.3:n.479+43G>A
ENST00000366684.7:c.522G>A MANE Select	ENSP00000355645.3:p.Pro174=
NM_001100.3:c.522G>A , LRG_429t1:c.522G>A	NP_001091.1:p.Pro174=
NM_001100.4:c.522G>A MANE Select	NP_001091.1:p.Pro174=