Canonical Allele Identifier: CA340619490
Gene: USP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3187111
ClinVar RCV Id: RCV004484475
gnomAD v4: 1-62447349-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447349C>G , CM000663.2:g.62447349C>G GRCh38
NC_000001.10:g.62913020C>G , CM000663.1:g.62913020C>G GRCh37
NC_000001.9:g.62685608C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339950.5:c.1258C>G MANE Select ENSP00000343526.4:p.Gln420Glu
ENST00000339950.4:c.1258C>G ENSP00000343526.4:p.Gln420Glu
ENST00000371146.5:c.1258C>G ENSP00000360188.1:p.Gln420Glu
NM_001017415.1:c.1258C>G NP_001017415.1:p.Gln420Glu
NM_001017416.1:c.1258C>G NP_001017416.1:p.Gln420Glu
NM_003368.4:c.1258C>G NP_003359.3:p.Gln420Glu
NM_003368.5:c.1258C>G MANE Select NP_003359.3:p.Gln420Glu
NM_001017415.2:c.1258C>G NP_001017415.1:p.Gln420Glu
NM_001017416.2:c.1258C>G NP_001017416.1:p.Gln420Glu