Canonical Allele Identifier: CA392398971

Gene: USP8

Linked Data

• dbSNP Id: rs2141317616
• MyVariant Identifiers: chr15:g.50782590A>G (hg19) ; chr15:g.50490393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490393A>G , CM000677.2:g.50490393A>G	GRCh38
NC_000015.9:g.50782590A>G , CM000677.1:g.50782590A>G	GRCh37
NC_000015.8:g.48569882A>G	NCBI36
NG_047101.1:g.71017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2102A>G MANE Select	ENSP00000302239.4:p.Gln701Arg
ENST00000307179.8:c.2102A>G	ENSP00000302239.4:p.Gln701Arg
ENST00000396444.7:c.2102A>G	ENSP00000379721.3:p.Gln701Arg
ENST00000425032.7:c.1784A>G	ENSP00000412682.3:p.Gln595Arg
ENST00000561206.1:n.519A>G
NM_001128610.2:c.2102A>G	NP_001122082.1:p.Gln701Arg
NM_001283049.1:c.1784A>G	NP_001269978.1:p.Gln595Arg
NM_005154.4:c.2102A>G	NP_005145.3:p.Gln701Arg
XM_006720761.2:c.2102A>G	XP_006720824.1:p.Gln701Arg
XM_006720762.2:c.2015A>G	XP_006720825.1:p.Gln672Arg
XM_011522193.1:c.2102A>G	XP_011520495.1:p.Gln701Arg
XM_011522194.1:c.1430A>G	XP_011520496.1:p.Gln477Arg
XM_006720761.3:c.2102A>G	XP_006720824.1:p.Gln701Arg
XM_006720762.3:c.2015A>G	XP_006720825.1:p.Gln672Arg
XM_011522193.3:c.2102A>G	XP_011520495.1:p.Gln701Arg
XM_017022718.1:c.2015A>G	XP_016878207.1:p.Gln672Arg
XM_017022719.2:c.2015A>G	XP_016878208.1:p.Gln672Arg
XM_017022720.2:c.2015A>G	XP_016878209.1:p.Gln672Arg
XM_017022721.2:c.1532A>G	XP_016878210.1:p.Gln511Arg
XM_017022722.1:c.1532A>G	XP_016878211.1:p.Gln511Arg
XM_024450098.1:c.1532A>G	XP_024305866.1:p.Gln511Arg
NM_005154.5:c.2102A>G MANE Select	NP_005145.3:p.Gln701Arg
NM_001128610.3:c.2102A>G	NP_001122082.1:p.Gln701Arg
NM_001283049.2:c.1784A>G	NP_001269978.1:p.Gln595Arg