Canonical Allele Identifier: CA392399094
Gene: USP8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490428C>G , CM000677.2:g.50490428C>G GRCh38
NC_000015.9:g.50782625C>G , CM000677.1:g.50782625C>G GRCh37
NC_000015.8:g.48569917C>G NCBI36
NG_047101.1:g.71052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2137C>G MANE Select ENSP00000302239.4:p.Leu713Val
ENST00000307179.8:c.2137C>G ENSP00000302239.4:p.Leu713Val
ENST00000396444.7:c.2137C>G ENSP00000379721.3:p.Leu713Val
ENST00000425032.7:c.1819C>G ENSP00000412682.3:p.Leu607Val
ENST00000561206.1:n.554C>G
NM_001128610.2:c.2137C>G NP_001122082.1:p.Leu713Val
NM_001283049.1:c.1819C>G NP_001269978.1:p.Leu607Val
NM_005154.4:c.2137C>G NP_005145.3:p.Leu713Val
XM_006720761.2:c.2137C>G XP_006720824.1:p.Leu713Val
XM_006720762.2:c.2050C>G XP_006720825.1:p.Leu684Val
XM_011522193.1:c.2137C>G XP_011520495.1:p.Leu713Val
XM_011522194.1:c.1465C>G XP_011520496.1:p.Leu489Val
XM_006720761.3:c.2137C>G XP_006720824.1:p.Leu713Val
XM_006720762.3:c.2050C>G XP_006720825.1:p.Leu684Val
XM_011522193.3:c.2137C>G XP_011520495.1:p.Leu713Val
XM_017022718.1:c.2050C>G XP_016878207.1:p.Leu684Val
XM_017022719.2:c.2050C>G XP_016878208.1:p.Leu684Val
XM_017022720.2:c.2050C>G XP_016878209.1:p.Leu684Val
XM_017022721.2:c.1567C>G XP_016878210.1:p.Leu523Val
XM_017022722.1:c.1567C>G XP_016878211.1:p.Leu523Val
XM_024450098.1:c.1567C>G XP_024305866.1:p.Leu523Val
NM_005154.5:c.2137C>G MANE Select NP_005145.3:p.Leu713Val
NM_001128610.3:c.2137C>G NP_001122082.1:p.Leu713Val
NM_001283049.2:c.1819C>G NP_001269978.1:p.Leu607Val