Canonical Allele Identifier: CA345144619
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2438833
ClinVar RCV Id: RCV003139585
COSMIC: COSM3369596
MyVariant Identifiers: chr1:g.229567331G>C (hg19) chr1:g.229431584G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431584G>C , CM000663.2:g.229431584G>C GRCh38
NC_000001.10:g.229567331G>C , CM000663.1:g.229567331G>C GRCh37
NC_000001.9:g.227633954G>C NCBI36
NG_006672.1:g.7513C>G , LRG_429:g.7513C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-20C>G ENSP00000355644.4:n.991-20C>G
ENST00000684723.1:c.914C>G ENSP00000508084.1:p.Ser305Trp
ENST00000366683.3:c.680C>G ENSP00000355644.3:p.Ser227Trp
ENST00000366684.7:c.1049C>G MANE Select ENSP00000355645.3:p.Ser350Trp
NM_001100.3:c.1049C>G , LRG_429t1:c.1049C>G NP_001091.1:p.Ser350Trp
NM_001100.4:c.1049C>G MANE Select NP_001091.1:p.Ser350Trp
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