Canonical Allele Identifier: CA345144046
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692083
ClinVar RCV Id: RCV000853386
dbSNP Id: rs1571892193
MyVariant Identifiers: chr1:g.229567250A>G (hg19) chr1:g.229431503A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431503A>G , CM000663.2:g.229431503A>G GRCh38
NC_000001.10:g.229567250A>G , CM000663.1:g.229567250A>G GRCh37
NC_000001.9:g.227633873A>G NCBI36
NG_006672.1:g.7594T>C , LRG_429:g.7594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1052T>C ENSP00000355644.4:p.Phe351Ser
ENST00000684723.1:c.995T>C ENSP00000508084.1:p.Phe332Ser
ENST00000366683.3:c.761T>C ENSP00000355644.3:p.Phe254Ser
ENST00000366684.7:c.1130T>C MANE Select ENSP00000355645.3:p.Phe377Ser
NM_001100.3:c.1130T>C , LRG_429t1:c.1130T>C NP_001091.1:p.Phe377Ser
NM_001100.4:c.1130T>C MANE Select NP_001091.1:p.Phe377Ser
Search 100 bp 5'
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