Canonical Allele Identifier: CA7555572

Gene: USP8

Linked Data

• ClinVar Variation Id: 528040
• ClinVar RCV Id: RCV000633119
• dbSNP Id: rs752682936
• ExAC: 15:50763966 C / T
• gnomAD v2: 15-50763966-C-T
• gnomAD v3: 15-50471769-C-T
• gnomAD v4: 15-50471769-C-T
• MyVariant Identifiers: chr15:g.50763966C>T (hg19) ; chr15:g.50471769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50471769C>T , CM000677.2:g.50471769C>T	GRCh38
NC_000015.9:g.50763966C>T , CM000677.1:g.50763966C>T	GRCh37
NC_000015.8:g.48551258C>T	NCBI36
NG_047101.1:g.52393C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307179.9:c.823C>T MANE Select	ENSP00000302239.4:p.Arg275Trp
ENST00000307179.8:c.823C>T	ENSP00000302239.4:p.Arg275Trp
ENST00000396444.7:c.823C>T	ENSP00000379721.3:p.Arg275Trp
ENST00000425032.7:c.592C>T	ENSP00000412682.3:p.Arg198Trp
ENST00000559329.5:c.823C>T	ENSP00000454003.1:p.Arg275Trp
ENST00000560730.5:c.*249C>T	ENSP00000452950.1:n.*249C>T
ENST00000561330.1:c.336-5507C>T	ENSP00000453460.1:n.336-5507C>T
ENST00000625664.2:c.*489C>T	ENSP00000485810.1:n.*489C>T
NM_001128610.2:c.823C>T	NP_001122082.1:p.Arg275Trp
NM_001283049.1:c.592C>T	NP_001269978.1:p.Arg198Trp
NM_005154.4:c.823C>T	NP_005145.3:p.Arg275Trp
XM_006720761.2:c.823C>T	XP_006720824.1:p.Arg275Trp
XM_006720762.2:c.823C>T	XP_006720825.1:p.Arg275Trp
XM_011522193.1:c.823C>T	XP_011520495.1:p.Arg275Trp
XM_011522194.1:c.823C>T	XP_011520496.1:p.Arg275Trp
XM_006720761.3:c.823C>T	XP_006720824.1:p.Arg275Trp
XM_006720762.3:c.823C>T	XP_006720825.1:p.Arg275Trp
XM_011522193.3:c.823C>T	XP_011520495.1:p.Arg275Trp
XM_017022718.1:c.823C>T	XP_016878207.1:p.Arg275Trp
XM_017022719.2:c.823C>T	XP_016878208.1:p.Arg275Trp
XM_017022720.2:c.823C>T	XP_016878209.1:p.Arg275Trp
XM_017022721.2:c.253C>T	XP_016878210.1:p.Arg85Trp
XM_017022722.1:c.253C>T	XP_016878211.1:p.Arg85Trp
XM_024450098.1:c.253C>T	XP_024305866.1:p.Arg85Trp
NM_005154.5:c.823C>T MANE Select	NP_005145.3:p.Arg275Trp
NM_001128610.3:c.823C>T	NP_001122082.1:p.Arg275Trp
NM_001283049.2:c.592C>T	NP_001269978.1:p.Arg198Trp