Canonical Allele Identifier: CA490561811

Gene: USP8

Linked Data

• dbSNP Id: rs1287465406
• gnomAD v2: 15-50782531-G-A
• gnomAD v3: 15-50490334-G-A
• gnomAD v4: 15-50490334-G-A
• MyVariant Identifiers: chr15:g.50782531G>A (hg19) ; chr15:g.50490334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490334G>A , CM000677.2:g.50490334G>A	GRCh38
NC_000015.9:g.50782531G>A , CM000677.1:g.50782531G>A	GRCh37
NC_000015.8:g.48569823G>A	NCBI36
NG_047101.1:g.70958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2043G>A MANE Select	ENSP00000302239.4:p.Pro681=
ENST00000307179.8:c.2043G>A	ENSP00000302239.4:p.Pro681=
ENST00000396444.7:c.2043G>A	ENSP00000379721.3:p.Pro681=
ENST00000425032.7:c.1725G>A	ENSP00000412682.3:p.Pro575=
ENST00000561206.1:n.460G>A
NM_001128610.2:c.2043G>A	NP_001122082.1:p.Pro681=
NM_001283049.1:c.1725G>A	NP_001269978.1:p.Pro575=
NM_005154.4:c.2043G>A	NP_005145.3:p.Pro681=
XM_006720761.2:c.2043G>A	XP_006720824.1:p.Pro681=
XM_006720762.2:c.1956G>A	XP_006720825.1:p.Pro652=
XM_011522193.1:c.2043G>A	XP_011520495.1:p.Pro681=
XM_011522194.1:c.1371G>A	XP_011520496.1:p.Pro457=
XM_006720761.3:c.2043G>A	XP_006720824.1:p.Pro681=
XM_006720762.3:c.1956G>A	XP_006720825.1:p.Pro652=
XM_011522193.3:c.2043G>A	XP_011520495.1:p.Pro681=
XM_017022718.1:c.1956G>A	XP_016878207.1:p.Pro652=
XM_017022719.2:c.1956G>A	XP_016878208.1:p.Pro652=
XM_017022720.2:c.1956G>A	XP_016878209.1:p.Pro652=
XM_017022721.2:c.1473G>A	XP_016878210.1:p.Pro491=
XM_017022722.1:c.1473G>A	XP_016878211.1:p.Pro491=
XM_024450098.1:c.1473G>A	XP_024305866.1:p.Pro491=
NM_005154.5:c.2043G>A MANE Select	NP_005145.3:p.Pro681=
NM_001128610.3:c.2043G>A	NP_001122082.1:p.Pro681=
NM_001283049.2:c.1725G>A	NP_001269978.1:p.Pro575=