Canonical Allele Identifier: CA392399344
Gene: USP8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490497G>T , CM000677.2:g.50490497G>T GRCh38
NC_000015.9:g.50782694G>T , CM000677.1:g.50782694G>T GRCh37
NC_000015.8:g.48569986G>T NCBI36
NG_047101.1:g.71121G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2206G>T MANE Select ENSP00000302239.4:p.Val736Leu
ENST00000307179.8:c.2206G>T ENSP00000302239.4:p.Val736Leu
ENST00000396444.7:c.2206G>T ENSP00000379721.3:p.Val736Leu
ENST00000425032.7:c.1888G>T ENSP00000412682.3:p.Val630Leu
NM_001128610.2:c.2206G>T NP_001122082.1:p.Val736Leu
NM_001283049.1:c.1888G>T NP_001269978.1:p.Val630Leu
NM_005154.4:c.2206G>T NP_005145.3:p.Val736Leu
XM_006720761.2:c.2206G>T XP_006720824.1:p.Val736Leu
XM_006720762.2:c.2119G>T XP_006720825.1:p.Val707Leu
XM_011522193.1:c.2206G>T XP_011520495.1:p.Val736Leu
XM_011522194.1:c.1534G>T XP_011520496.1:p.Val512Leu
XM_006720761.3:c.2206G>T XP_006720824.1:p.Val736Leu
XM_006720762.3:c.2119G>T XP_006720825.1:p.Val707Leu
XM_011522193.3:c.2206G>T XP_011520495.1:p.Val736Leu
XM_017022718.1:c.2119G>T XP_016878207.1:p.Val707Leu
XM_017022719.2:c.2119G>T XP_016878208.1:p.Val707Leu
XM_017022720.2:c.2119G>T XP_016878209.1:p.Val707Leu
XM_017022721.2:c.1636G>T XP_016878210.1:p.Val546Leu
XM_017022722.1:c.1636G>T XP_016878211.1:p.Val546Leu
XM_024450098.1:c.1636G>T XP_024305866.1:p.Val546Leu
NM_005154.5:c.2206G>T MANE Select NP_005145.3:p.Val736Leu
NM_001128610.3:c.2206G>T NP_001122082.1:p.Val736Leu
NM_001283049.2:c.1888G>T NP_001269978.1:p.Val630Leu