Canonical Allele Identifier: CA340621375
Gene: USP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447505T>C , CM000663.2:g.62447505T>C GRCh38
NC_000001.10:g.62913176T>C , CM000663.1:g.62913176T>C GRCh37
NC_000001.9:g.62685764T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339950.5:c.1414T>C MANE Select ENSP00000343526.4:p.Ser472Pro
ENST00000339950.4:c.1414T>C ENSP00000343526.4:p.Ser472Pro
ENST00000371146.5:c.1414T>C ENSP00000360188.1:p.Ser472Pro
NM_001017415.1:c.1414T>C NP_001017415.1:p.Ser472Pro
NM_001017416.1:c.1414T>C NP_001017416.1:p.Ser472Pro
NM_003368.4:c.1414T>C NP_003359.3:p.Ser472Pro
NM_003368.5:c.1414T>C MANE Select NP_003359.3:p.Ser472Pro
NM_001017415.2:c.1414T>C NP_001017415.1:p.Ser472Pro
NM_001017416.2:c.1414T>C NP_001017416.1:p.Ser472Pro