Canonical Allele Identifier: CA340621381
Gene: USP1 HGNC NCBI

Linked Data

gnomAD v4: 1-62447506-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447506C>G , CM000663.2:g.62447506C>G GRCh38
NC_000001.10:g.62913177C>G , CM000663.1:g.62913177C>G GRCh37
NC_000001.9:g.62685765C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339950.5:c.1415C>G MANE Select ENSP00000343526.4:p.Ser472Cys
ENST00000339950.4:c.1415C>G ENSP00000343526.4:p.Ser472Cys
ENST00000371146.5:c.1415C>G ENSP00000360188.1:p.Ser472Cys
NM_001017415.1:c.1415C>G NP_001017415.1:p.Ser472Cys
NM_001017416.1:c.1415C>G NP_001017416.1:p.Ser472Cys
NM_003368.4:c.1415C>G NP_003359.3:p.Ser472Cys
NM_003368.5:c.1415C>G MANE Select NP_003359.3:p.Ser472Cys
NM_001017415.2:c.1415C>G NP_001017415.1:p.Ser472Cys
NM_001017416.2:c.1415C>G NP_001017416.1:p.Ser472Cys