Canonical Allele Identifier: CA884998
Gene: USP1 HGNC NCBI

Linked Data

dbSNP Id: rs560047883
gnomAD v2: 1-62913161-A-G
gnomAD v3: 1-62447490-A-G
gnomAD v4: 1-62447490-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62447490A>G , CM000663.2:g.62447490A>G GRCh38
NC_000001.10:g.62913161A>G , CM000663.1:g.62913161A>G GRCh37
NC_000001.9:g.62685749A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000339950.5:c.1399A>G MANE Select ENSP00000343526.4:p.Lys467Glu
ENST00000339950.4:c.1399A>G ENSP00000343526.4:p.Lys467Glu
ENST00000371146.5:c.1399A>G ENSP00000360188.1:p.Lys467Glu
NM_001017415.1:c.1399A>G NP_001017415.1:p.Lys467Glu
NM_001017416.1:c.1399A>G NP_001017416.1:p.Lys467Glu
NM_003368.4:c.1399A>G NP_003359.3:p.Lys467Glu
NM_003368.5:c.1399A>G MANE Select NP_003359.3:p.Lys467Glu
NM_001017415.2:c.1399A>G NP_001017415.1:p.Lys467Glu
NM_001017416.2:c.1399A>G NP_001017416.1:p.Lys467Glu