Canonical Allele Identifier: CA1442712

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 510989
• ClinVar RCV Id: RCV000606806 ; RCV001404154
• dbSNP Id: rs375945657
• ExAC: 1:229567315 C / T
• gnomAD v2: 1-229567315-C-T
• gnomAD v3: 1-229431568-C-T
• gnomAD v4: 1-229431568-C-T
• MyVariant Identifiers: chr1:g.229567315C>T (hg19) ; chr1:g.229431568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431568C>T , CM000663.2:g.229431568C>T	GRCh38
NC_000001.10:g.229567315C>T , CM000663.1:g.229567315C>T	GRCh37
NC_000001.9:g.227633938C>T	NCBI36
NG_006672.1:g.7529G>A , LRG_429:g.7529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.991-4G>A	ENSP00000355644.4:n.991-4G>A
ENST00000684723.1:c.930G>A	ENSP00000508084.1:p.Gln310=
ENST00000366683.3:c.696G>A	ENSP00000355644.3:p.Gln232=
ENST00000366684.7:c.1065G>A MANE Select	ENSP00000355645.3:p.Gln355=
NM_001100.3:c.1065G>A , LRG_429t1:c.1065G>A	NP_001091.1:p.Gln355=
NM_001100.4:c.1065G>A MANE Select	NP_001091.1:p.Gln355=