Canonical Allele Identifier: CA1442703

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 464116
• ClinVar RCV Id: RCV000546819 ; RCV001096304 ; RCV001096305
• dbSNP Id: rs142311664
• ExAC: 1:229567255 T / C
• gnomAD v2: 1-229567255-T-C
• gnomAD v3: 1-229431508-T-C
• gnomAD v4: 1-229431508-T-C
• MyVariant Identifiers: chr1:g.229567255T>C (hg19) ; chr1:g.229431508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431508T>C , CM000663.2:g.229431508T>C	GRCh38
NC_000001.10:g.229567255T>C , CM000663.1:g.229567255T>C	GRCh37
NC_000001.9:g.227633878T>C	NCBI36
NG_006672.1:g.7589A>G , LRG_429:g.7589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.1047A>G	ENSP00000355644.4:p.Lys349=
ENST00000684723.1:c.990A>G	ENSP00000508084.1:p.Lys330=
ENST00000366683.3:c.756A>G	ENSP00000355644.3:p.Lys252=
ENST00000366684.7:c.1125A>G MANE Select	ENSP00000355645.3:p.Lys375=
NM_001100.3:c.1125A>G , LRG_429t1:c.1125A>G	NP_001091.1:p.Lys375=
NM_001100.4:c.1125A>G MANE Select	NP_001091.1:p.Lys375=