Canonical Allele Identifier: CA7555896

Gene: USP8

Linked Data

• ClinVar Variation Id: 1635362
• ClinVar RCV Id: RCV002135181
• dbSNP Id: rs767210381
• ExAC: 15:50782609 T / C
• gnomAD v2: 15-50782609-T-C
• gnomAD v3: 15-50490412-T-C
• gnomAD v4: 15-50490412-T-C
• MyVariant Identifiers: chr15:g.50782609T>C (hg19) ; chr15:g.50490412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490412T>C , CM000677.2:g.50490412T>C	GRCh38
NC_000015.9:g.50782609T>C , CM000677.1:g.50782609T>C	GRCh37
NC_000015.8:g.48569901T>C	NCBI36
NG_047101.1:g.71036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2121T>C MANE Select	ENSP00000302239.4:p.Asp707=
ENST00000307179.8:c.2121T>C	ENSP00000302239.4:p.Asp707=
ENST00000396444.7:c.2121T>C	ENSP00000379721.3:p.Asp707=
ENST00000425032.7:c.1803T>C	ENSP00000412682.3:p.Asp601=
ENST00000561206.1:n.538T>C
NM_001128610.2:c.2121T>C	NP_001122082.1:p.Asp707=
NM_001283049.1:c.1803T>C	NP_001269978.1:p.Asp601=
NM_005154.4:c.2121T>C	NP_005145.3:p.Asp707=
XM_006720761.2:c.2121T>C	XP_006720824.1:p.Asp707=
XM_006720762.2:c.2034T>C	XP_006720825.1:p.Asp678=
XM_011522193.1:c.2121T>C	XP_011520495.1:p.Asp707=
XM_011522194.1:c.1449T>C	XP_011520496.1:p.Asp483=
XM_006720761.3:c.2121T>C	XP_006720824.1:p.Asp707=
XM_006720762.3:c.2034T>C	XP_006720825.1:p.Asp678=
XM_011522193.3:c.2121T>C	XP_011520495.1:p.Asp707=
XM_017022718.1:c.2034T>C	XP_016878207.1:p.Asp678=
XM_017022719.2:c.2034T>C	XP_016878208.1:p.Asp678=
XM_017022720.2:c.2034T>C	XP_016878209.1:p.Asp678=
XM_017022721.2:c.1551T>C	XP_016878210.1:p.Asp517=
XM_017022722.1:c.1551T>C	XP_016878211.1:p.Asp517=
XM_024450098.1:c.1551T>C	XP_024305866.1:p.Asp517=
NM_005154.5:c.2121T>C MANE Select	NP_005145.3:p.Asp707=
NM_001128610.3:c.2121T>C	NP_001122082.1:p.Asp707=
NM_001283049.2:c.1803T>C	NP_001269978.1:p.Asp601=