Canonical Allele Identifier: CA345144616
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1457948
ClinVar RCV Id: RCV001956125
dbSNP Id: rs2102735031
MyVariant Identifiers: chr1:g.229567331G>A (hg19) chr1:g.229431584G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-20C>T ENSP00000355644.4:n.991-20C>T
ENST00000684723.1:c.914C>T ENSP00000508084.1:p.Ser305Leu
ENST00000366683.3:c.680C>T ENSP00000355644.3:p.Ser227Leu
ENST00000366684.7:c.1049C>T MANE Select ENSP00000355645.3:p.Ser350Leu
NM_001100.3:c.1049C>T , LRG_429t1:c.1049C>T NP_001091.1:p.Ser350Leu
NM_001100.4:c.1049C>T MANE Select NP_001091.1:p.Ser350Leu
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