Canonical Allele Identifier: CA345150606
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521671
ClinVar RCV Id: RCV000622532
dbSNP Id: rs1553255501
MyVariant Identifiers: chr1:g.229568539A>C (hg19) chr1:g.229432792A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432792A>C , CM000663.2:g.229432792A>C GRCh38
NC_000001.10:g.229568539A>C , CM000663.1:g.229568539A>C GRCh37
NC_000001.9:g.227635162A>C NCBI36
NG_006672.1:g.6305T>G , LRG_429:g.6305T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.218T>G ENSP00000355644.4:p.Ile73Ser
ENST00000684723.1:c.83T>G ENSP00000508084.1:p.Ile28Ser
ENST00000366683.3:c.218T>G ENSP00000355644.3:p.Ile73Ser
ENST00000366684.7:c.218T>G MANE Select ENSP00000355645.3:p.Ile73Ser
NM_001100.3:c.218T>G , LRG_429t1:c.218T>G NP_001091.1:p.Ile73Ser
NM_001100.4:c.218T>G MANE Select NP_001091.1:p.Ile73Ser
Search 100 bp 5'
Search 100 bp 3'