Canonical Allele Identifier: CA423754791
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1571892212
MyVariant Identifiers: chr1:g.229567264G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431517G>C , CM000663.2:g.229431517G>C GRCh38
NC_000001.10:g.229567264G>C , CM000663.1:g.229567264G>C GRCh37
NC_000001.9:g.227633887G>C NCBI36
NG_006672.1:g.7580C>G , LRG_429:g.7580C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1038C>G ENSP00000355644.4:p.Val346=
ENST00000684723.1:c.981C>G ENSP00000508084.1:p.Val327=
ENST00000366683.3:c.747C>G ENSP00000355644.3:p.Val249=
ENST00000366684.7:c.1116C>G MANE Select ENSP00000355645.3:p.Val372=
NM_001100.3:c.1116C>G , LRG_429t1:c.1116C>G NP_001091.1:p.Val372=
NM_001100.4:c.1116C>G MANE Select NP_001091.1:p.Val372=
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