Canonical Allele Identifier: CA345146119
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848617
ClinVar RCV Id: RCV001052411
dbSNP Id: rs1659944113
MyVariant Identifiers: chr1:g.229567616T>C (hg19) chr1:g.229431869T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431869T>C , CM000663.2:g.229431869T>C GRCh38
NC_000001.10:g.229567616T>C , CM000663.1:g.229567616T>C GRCh37
NC_000001.9:g.227634239T>C NCBI36
NG_006672.1:g.7228A>G , LRG_429:g.7228A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.842A>G ENSP00000355644.4:p.Tyr281Cys
ENST00000684723.1:c.707A>G ENSP00000508084.1:p.Tyr236Cys
ENST00000366683.3:c.480-7A>G ENSP00000355644.3:n.480-7A>G
ENST00000366684.7:c.842A>G MANE Select ENSP00000355645.3:p.Tyr281Cys
NM_001100.3:c.842A>G , LRG_429t1:c.842A>G NP_001091.1:p.Tyr281Cys
NM_001100.4:c.842A>G MANE Select NP_001091.1:p.Tyr281Cys
Search 100 bp 5'
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