Canonical Allele Identifier: CA23729896
Gene: USP1 HGNC NCBI

Linked Data

dbSNP Id: rs10158897
gnomAD v2: 1-62912919-C-T
gnomAD v3: 1-62447248-C-T
gnomAD v4: 1-62447248-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447248C>T , CM000663.2:g.62447248C>T GRCh38
NC_000001.10:g.62912919C>T , CM000663.1:g.62912919C>T GRCh37
NC_000001.9:g.62685507C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000339950.5:c.1250-93C>T MANE Select ENSP00000343526.4:n.1250-93C>T
ENST00000339950.4:c.1250-93C>T ENSP00000343526.4:n.1250-93C>T
ENST00000371146.5:c.1250-93C>T ENSP00000360188.1:n.1250-93C>T
NM_001017415.1:c.1250-93C>T NP_001017415.1:n.1250-93C>T
NM_001017416.1:c.1250-93C>T NP_001017416.1:n.1250-93C>T
NM_003368.4:c.1250-93C>T NP_003359.3:n.1250-93C>T
NM_003368.5:c.1250-93C>T MANE Select NP_003359.3:n.1250-93C>T
NM_001017415.2:c.1250-93C>T NP_001017415.1:n.1250-93C>T
NM_001017416.2:c.1250-93C>T NP_001017416.1:n.1250-93C>T