Canonical Allele Identifier: CA392398793

Gene: USP8

Linked Data

• COSMIC: COSM1664929
• MyVariant Identifiers: chr15:g.50782544T>G (hg19) ; chr15:g.50490347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490347T>G , CM000677.2:g.50490347T>G	GRCh38
NC_000015.9:g.50782544T>G , CM000677.1:g.50782544T>G	GRCh37
NC_000015.8:g.48569836T>G	NCBI36
NG_047101.1:g.70971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2056T>G MANE Select	ENSP00000302239.4:p.Ser686Ala
ENST00000307179.8:c.2056T>G	ENSP00000302239.4:p.Ser686Ala
ENST00000396444.7:c.2056T>G	ENSP00000379721.3:p.Ser686Ala
ENST00000425032.7:c.1738T>G	ENSP00000412682.3:p.Ser580Ala
ENST00000561206.1:n.473T>G
NM_001128610.2:c.2056T>G	NP_001122082.1:p.Ser686Ala
NM_001283049.1:c.1738T>G	NP_001269978.1:p.Ser580Ala
NM_005154.4:c.2056T>G	NP_005145.3:p.Ser686Ala
XM_006720761.2:c.2056T>G	XP_006720824.1:p.Ser686Ala
XM_006720762.2:c.1969T>G	XP_006720825.1:p.Ser657Ala
XM_011522193.1:c.2056T>G	XP_011520495.1:p.Ser686Ala
XM_011522194.1:c.1384T>G	XP_011520496.1:p.Ser462Ala
XM_006720761.3:c.2056T>G	XP_006720824.1:p.Ser686Ala
XM_006720762.3:c.1969T>G	XP_006720825.1:p.Ser657Ala
XM_011522193.3:c.2056T>G	XP_011520495.1:p.Ser686Ala
XM_017022718.1:c.1969T>G	XP_016878207.1:p.Ser657Ala
XM_017022719.2:c.1969T>G	XP_016878208.1:p.Ser657Ala
XM_017022720.2:c.1969T>G	XP_016878209.1:p.Ser657Ala
XM_017022721.2:c.1486T>G	XP_016878210.1:p.Ser496Ala
XM_017022722.1:c.1486T>G	XP_016878211.1:p.Ser496Ala
XM_024450098.1:c.1486T>G	XP_024305866.1:p.Ser496Ala
NM_005154.5:c.2056T>G MANE Select	NP_005145.3:p.Ser686Ala
NM_001128610.3:c.2056T>G	NP_001122082.1:p.Ser686Ala
NM_001283049.2:c.1738T>G	NP_001269978.1:p.Ser580Ala