Canonical Allele Identifier: CA345144566
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1301883
ClinVar RCV Id: RCV001733824
dbSNP Id: rs2102735014
MyVariant Identifiers: chr1:g.229567320A>G (hg19) chr1:g.229431573A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431573A>G , CM000663.2:g.229431573A>G GRCh38
NC_000001.10:g.229567320A>G , CM000663.1:g.229567320A>G GRCh37
NC_000001.9:g.227633943A>G NCBI36
NG_006672.1:g.7524T>C , LRG_429:g.7524T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-9T>C ENSP00000355644.4:n.991-9T>C
ENST00000684723.1:c.925T>C ENSP00000508084.1:p.Phe309Leu
ENST00000366683.3:c.691T>C ENSP00000355644.3:p.Phe231Leu
ENST00000366684.7:c.1060T>C MANE Select ENSP00000355645.3:p.Phe354Leu
NM_001100.3:c.1060T>C , LRG_429t1:c.1060T>C NP_001091.1:p.Phe354Leu
NM_001100.4:c.1060T>C MANE Select NP_001091.1:p.Phe354Leu
Search 100 bp 5'
Search 100 bp 3'