Canonical Allele Identifier: CA345146620
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685233
ClinVar RCV Id: RCV002248960
dbSNP Id: rs1571892988
MyVariant Identifiers: chr1:g.229567787G>C (hg19) chr1:g.229432040G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432040G>C , CM000663.2:g.229432040G>C GRCh38
NC_000001.10:g.229567787G>C , CM000663.1:g.229567787G>C GRCh37
NC_000001.9:g.227634410G>C NCBI36
NG_006672.1:g.7057C>G , LRG_429:g.7057C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.762C>G ENSP00000355644.4:p.Asn254Lys
ENST00000684723.1:c.627C>G ENSP00000508084.1:p.Asn209Lys
ENST00000366683.3:c.480-178C>G ENSP00000355644.3:n.480-178C>G
ENST00000366684.7:c.762C>G MANE Select ENSP00000355645.3:p.Asn254Lys
NM_001100.3:c.762C>G , LRG_429t1:c.762C>G NP_001091.1:p.Asn254Lys
NM_001100.4:c.762C>G MANE Select NP_001091.1:p.Asn254Lys
Search 100 bp 5'
Search 100 bp 3'