Canonical Allele Identifier: CA345144037
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567249G>C (hg19) chr1:g.229431502G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431502G>C , CM000663.2:g.229431502G>C GRCh38
NC_000001.10:g.229567249G>C , CM000663.1:g.229567249G>C GRCh37
NC_000001.9:g.227633872G>C NCBI36
NG_006672.1:g.7595C>G , LRG_429:g.7595C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1053C>G ENSP00000355644.4:p.Phe351Leu
ENST00000684723.1:c.996C>G ENSP00000508084.1:p.Phe332Leu
ENST00000366683.3:c.762C>G ENSP00000355644.3:p.Phe254Leu
ENST00000366684.7:c.1131C>G MANE Select ENSP00000355645.3:p.Phe377Leu
NM_001100.3:c.1131C>G , LRG_429t1:c.1131C>G NP_001091.1:p.Phe377Leu
NM_001100.4:c.1131C>G MANE Select NP_001091.1:p.Phe377Leu
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