Canonical Allele Identifier: CA340621276
Gene: USP1 HGNC NCBI

Linked Data

gnomAD v4: 1-62447499-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447499G>A , CM000663.2:g.62447499G>A GRCh38
NC_000001.10:g.62913170G>A , CM000663.1:g.62913170G>A GRCh37
NC_000001.9:g.62685758G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339950.5:c.1408G>A MANE Select ENSP00000343526.4:p.Glu470Lys
ENST00000339950.4:c.1408G>A ENSP00000343526.4:p.Glu470Lys
ENST00000371146.5:c.1408G>A ENSP00000360188.1:p.Glu470Lys
NM_001017415.1:c.1408G>A NP_001017415.1:p.Glu470Lys
NM_001017416.1:c.1408G>A NP_001017416.1:p.Glu470Lys
NM_003368.4:c.1408G>A NP_003359.3:p.Glu470Lys
NM_003368.5:c.1408G>A MANE Select NP_003359.3:p.Glu470Lys
NM_001017415.2:c.1408G>A NP_001017415.1:p.Glu470Lys
NM_001017416.2:c.1408G>A NP_001017416.1:p.Glu470Lys