Canonical Allele Identifier: CA151565

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 128259
• ClinVar RCV Id: RCV000116219 ; RCV000639671 ; RCV001098142 ; RCV001098143
• dbSNP Id: rs146956806
• ExAC: 1:229568625 G / A
• gnomAD v2: 1-229568625-G-A
• gnomAD v3: 1-229432878-G-A
• gnomAD v4: 1-229432878-G-A
• MyVariant Identifiers: chr1:g.229568625G>A (hg19) ; chr1:g.229432878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432878G>A , CM000663.2:g.229432878G>A	GRCh38
NC_000001.10:g.229568625G>A , CM000663.1:g.229568625G>A	GRCh37
NC_000001.9:g.227635248G>A	NCBI36
NG_006672.1:g.6219C>T , LRG_429:g.6219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.132C>T	ENSP00000355644.4:p.Gly44=
ENST00000684723.1:c.-4C>T	ENSP00000508084.1:n.-4C>T
ENST00000366683.3:c.132C>T	ENSP00000355644.3:p.Gly44=
ENST00000366684.7:c.132C>T MANE Select	ENSP00000355645.3:p.Gly44=
NM_001100.3:c.132C>T , LRG_429t1:c.132C>T	NP_001091.1:p.Gly44=
NM_001100.4:c.132C>T MANE Select	NP_001091.1:p.Gly44=