Canonical Allele Identifier: CA392398930

Gene: USP8

Linked Data

• dbSNP Id: rs1483654869
• gnomAD v3: 15-50490383-G-T
• gnomAD v4: 15-50490383-G-T
• MyVariant Identifiers: chr15:g.50782580G>T (hg19) ; chr15:g.50490383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490383G>T , CM000677.2:g.50490383G>T	GRCh38
NC_000015.9:g.50782580G>T , CM000677.1:g.50782580G>T	GRCh37
NC_000015.8:g.48569872G>T	NCBI36
NG_047101.1:g.71007G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2092G>T MANE Select	ENSP00000302239.4:p.Ala698Ser
ENST00000307179.8:c.2092G>T	ENSP00000302239.4:p.Ala698Ser
ENST00000396444.7:c.2092G>T	ENSP00000379721.3:p.Ala698Ser
ENST00000425032.7:c.1774G>T	ENSP00000412682.3:p.Ala592Ser
ENST00000561206.1:n.509G>T
NM_001128610.2:c.2092G>T	NP_001122082.1:p.Ala698Ser
NM_001283049.1:c.1774G>T	NP_001269978.1:p.Ala592Ser
NM_005154.4:c.2092G>T	NP_005145.3:p.Ala698Ser
XM_006720761.2:c.2092G>T	XP_006720824.1:p.Ala698Ser
XM_006720762.2:c.2005G>T	XP_006720825.1:p.Ala669Ser
XM_011522193.1:c.2092G>T	XP_011520495.1:p.Ala698Ser
XM_011522194.1:c.1420G>T	XP_011520496.1:p.Ala474Ser
XM_006720761.3:c.2092G>T	XP_006720824.1:p.Ala698Ser
XM_006720762.3:c.2005G>T	XP_006720825.1:p.Ala669Ser
XM_011522193.3:c.2092G>T	XP_011520495.1:p.Ala698Ser
XM_017022718.1:c.2005G>T	XP_016878207.1:p.Ala669Ser
XM_017022719.2:c.2005G>T	XP_016878208.1:p.Ala669Ser
XM_017022720.2:c.2005G>T	XP_016878209.1:p.Ala669Ser
XM_017022721.2:c.1522G>T	XP_016878210.1:p.Ala508Ser
XM_017022722.1:c.1522G>T	XP_016878211.1:p.Ala508Ser
XM_024450098.1:c.1522G>T	XP_024305866.1:p.Ala508Ser
NM_005154.5:c.2092G>T MANE Select	NP_005145.3:p.Ala698Ser
NM_001128610.3:c.2092G>T	NP_001122082.1:p.Ala698Ser
NM_001283049.2:c.1774G>T	NP_001269978.1:p.Ala592Ser