Canonical Allele Identifier: CA392398809

Gene: USP8

Linked Data

• dbSNP Id: rs2141317499
• gnomAD v4: 15-50490353-G-C
• MyVariant Identifiers: chr15:g.50782550G>C (hg19) ; chr15:g.50490353G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490353G>C , CM000677.2:g.50490353G>C	GRCh38
NC_000015.9:g.50782550G>C , CM000677.1:g.50782550G>C	GRCh37
NC_000015.8:g.48569842G>C	NCBI36
NG_047101.1:g.70977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2062G>C MANE Select	ENSP00000302239.4:p.Ala688Pro
ENST00000307179.8:c.2062G>C	ENSP00000302239.4:p.Ala688Pro
ENST00000396444.7:c.2062G>C	ENSP00000379721.3:p.Ala688Pro
ENST00000425032.7:c.1744G>C	ENSP00000412682.3:p.Ala582Pro
ENST00000561206.1:n.479G>C
NM_001128610.2:c.2062G>C	NP_001122082.1:p.Ala688Pro
NM_001283049.1:c.1744G>C	NP_001269978.1:p.Ala582Pro
NM_005154.4:c.2062G>C	NP_005145.3:p.Ala688Pro
XM_006720761.2:c.2062G>C	XP_006720824.1:p.Ala688Pro
XM_006720762.2:c.1975G>C	XP_006720825.1:p.Ala659Pro
XM_011522193.1:c.2062G>C	XP_011520495.1:p.Ala688Pro
XM_011522194.1:c.1390G>C	XP_011520496.1:p.Ala464Pro
XM_006720761.3:c.2062G>C	XP_006720824.1:p.Ala688Pro
XM_006720762.3:c.1975G>C	XP_006720825.1:p.Ala659Pro
XM_011522193.3:c.2062G>C	XP_011520495.1:p.Ala688Pro
XM_017022718.1:c.1975G>C	XP_016878207.1:p.Ala659Pro
XM_017022719.2:c.1975G>C	XP_016878208.1:p.Ala659Pro
XM_017022720.2:c.1975G>C	XP_016878209.1:p.Ala659Pro
XM_017022721.2:c.1492G>C	XP_016878210.1:p.Ala498Pro
XM_017022722.1:c.1492G>C	XP_016878211.1:p.Ala498Pro
XM_024450098.1:c.1492G>C	XP_024305866.1:p.Ala498Pro
NM_005154.5:c.2062G>C MANE Select	NP_005145.3:p.Ala688Pro
NM_001128610.3:c.2062G>C	NP_001122082.1:p.Ala688Pro
NM_001283049.2:c.1744G>C	NP_001269978.1:p.Ala582Pro