Canonical Allele Identifier: CA392398711
Gene: USP8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490330C>T , CM000677.2:g.50490330C>T GRCh38
NC_000015.9:g.50782527C>T , CM000677.1:g.50782527C>T GRCh37
NC_000015.8:g.48569819C>T NCBI36
NG_047101.1:g.70954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2039C>T MANE Select ENSP00000302239.4:p.Pro680Leu
ENST00000307179.8:c.2039C>T ENSP00000302239.4:p.Pro680Leu
ENST00000396444.7:c.2039C>T ENSP00000379721.3:p.Pro680Leu
ENST00000425032.7:c.1721C>T ENSP00000412682.3:p.Pro574Leu
ENST00000561206.1:n.456C>T
NM_001128610.2:c.2039C>T NP_001122082.1:p.Pro680Leu
NM_001283049.1:c.1721C>T NP_001269978.1:p.Pro574Leu
NM_005154.4:c.2039C>T NP_005145.3:p.Pro680Leu
XM_006720761.2:c.2039C>T XP_006720824.1:p.Pro680Leu
XM_006720762.2:c.1952C>T XP_006720825.1:p.Pro651Leu
XM_011522193.1:c.2039C>T XP_011520495.1:p.Pro680Leu
XM_011522194.1:c.1367C>T XP_011520496.1:p.Pro456Leu
XM_006720761.3:c.2039C>T XP_006720824.1:p.Pro680Leu
XM_006720762.3:c.1952C>T XP_006720825.1:p.Pro651Leu
XM_011522193.3:c.2039C>T XP_011520495.1:p.Pro680Leu
XM_017022718.1:c.1952C>T XP_016878207.1:p.Pro651Leu
XM_017022719.2:c.1952C>T XP_016878208.1:p.Pro651Leu
XM_017022720.2:c.1952C>T XP_016878209.1:p.Pro651Leu
XM_017022721.2:c.1469C>T XP_016878210.1:p.Pro490Leu
XM_017022722.1:c.1469C>T XP_016878211.1:p.Pro490Leu
XM_024450098.1:c.1469C>T XP_024305866.1:p.Pro490Leu
NM_005154.5:c.2039C>T MANE Select NP_005145.3:p.Pro680Leu
NM_001128610.3:c.2039C>T NP_001122082.1:p.Pro680Leu
NM_001283049.2:c.1721C>T NP_001269978.1:p.Pro574Leu