Canonical Allele Identifier: CA7555893

Gene: USP8

Linked Data

• ClinVar Variation Id: 1379085
• ClinVar RCV Id: RCV001883586 ; RCV002490098
• dbSNP Id: rs766783893
• ExAC: 15:50782596 C / A
• gnomAD v2: 15-50782596-C-A
• gnomAD v3: 15-50490399-C-A
• gnomAD v4: 15-50490399-C-A
• MyVariant Identifiers: chr15:g.50782596C>A (hg19) ; chr15:g.50490399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490399C>A , CM000677.2:g.50490399C>A	GRCh38
NC_000015.9:g.50782596C>A , CM000677.1:g.50782596C>A	GRCh37
NC_000015.8:g.48569888C>A	NCBI36
NG_047101.1:g.71023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2108C>A MANE Select	ENSP00000302239.4:p.Pro703His
ENST00000307179.8:c.2108C>A	ENSP00000302239.4:p.Pro703His
ENST00000396444.7:c.2108C>A	ENSP00000379721.3:p.Pro703His
ENST00000425032.7:c.1790C>A	ENSP00000412682.3:p.Pro597His
ENST00000561206.1:n.525C>A
NM_001128610.2:c.2108C>A	NP_001122082.1:p.Pro703His
NM_001283049.1:c.1790C>A	NP_001269978.1:p.Pro597His
NM_005154.4:c.2108C>A	NP_005145.3:p.Pro703His
XM_006720761.2:c.2108C>A	XP_006720824.1:p.Pro703His
XM_006720762.2:c.2021C>A	XP_006720825.1:p.Pro674His
XM_011522193.1:c.2108C>A	XP_011520495.1:p.Pro703His
XM_011522194.1:c.1436C>A	XP_011520496.1:p.Pro479His
XM_006720761.3:c.2108C>A	XP_006720824.1:p.Pro703His
XM_006720762.3:c.2021C>A	XP_006720825.1:p.Pro674His
XM_011522193.3:c.2108C>A	XP_011520495.1:p.Pro703His
XM_017022718.1:c.2021C>A	XP_016878207.1:p.Pro674His
XM_017022719.2:c.2021C>A	XP_016878208.1:p.Pro674His
XM_017022720.2:c.2021C>A	XP_016878209.1:p.Pro674His
XM_017022721.2:c.1538C>A	XP_016878210.1:p.Pro513His
XM_017022722.1:c.1538C>A	XP_016878211.1:p.Pro513His
XM_024450098.1:c.1538C>A	XP_024305866.1:p.Pro513His
NM_005154.5:c.2108C>A MANE Select	NP_005145.3:p.Pro703His
NM_001128610.3:c.2108C>A	NP_001122082.1:p.Pro703His
NM_001283049.2:c.1790C>A	NP_001269978.1:p.Pro597His