Canonical Allele Identifier: CA392398825

Gene: USP8

Linked Data

• dbSNP Id: rs2141317518
• gnomAD v4: 15-50490357-C-T
• MyVariant Identifiers: chr15:g.50782554C>T (hg19) ; chr15:g.50490357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490357C>T , CM000677.2:g.50490357C>T	GRCh38
NC_000015.9:g.50782554C>T , CM000677.1:g.50782554C>T	GRCh37
NC_000015.8:g.48569846C>T	NCBI36
NG_047101.1:g.70981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2066C>T MANE Select	ENSP00000302239.4:p.Pro689Leu
ENST00000307179.8:c.2066C>T	ENSP00000302239.4:p.Pro689Leu
ENST00000396444.7:c.2066C>T	ENSP00000379721.3:p.Pro689Leu
ENST00000425032.7:c.1748C>T	ENSP00000412682.3:p.Pro583Leu
ENST00000561206.1:n.483C>T
NM_001128610.2:c.2066C>T	NP_001122082.1:p.Pro689Leu
NM_001283049.1:c.1748C>T	NP_001269978.1:p.Pro583Leu
NM_005154.4:c.2066C>T	NP_005145.3:p.Pro689Leu
XM_006720761.2:c.2066C>T	XP_006720824.1:p.Pro689Leu
XM_006720762.2:c.1979C>T	XP_006720825.1:p.Pro660Leu
XM_011522193.1:c.2066C>T	XP_011520495.1:p.Pro689Leu
XM_011522194.1:c.1394C>T	XP_011520496.1:p.Pro465Leu
XM_006720761.3:c.2066C>T	XP_006720824.1:p.Pro689Leu
XM_006720762.3:c.1979C>T	XP_006720825.1:p.Pro660Leu
XM_011522193.3:c.2066C>T	XP_011520495.1:p.Pro689Leu
XM_017022718.1:c.1979C>T	XP_016878207.1:p.Pro660Leu
XM_017022719.2:c.1979C>T	XP_016878208.1:p.Pro660Leu
XM_017022720.2:c.1979C>T	XP_016878209.1:p.Pro660Leu
XM_017022721.2:c.1496C>T	XP_016878210.1:p.Pro499Leu
XM_017022722.1:c.1496C>T	XP_016878211.1:p.Pro499Leu
XM_024450098.1:c.1496C>T	XP_024305866.1:p.Pro499Leu
NM_005154.5:c.2066C>T MANE Select	NP_005145.3:p.Pro689Leu
NM_001128610.3:c.2066C>T	NP_001122082.1:p.Pro689Leu
NM_001283049.2:c.1748C>T	NP_001269978.1:p.Pro583Leu