Canonical Allele Identifier: CA5556810

Gene: USP54

Linked Data

• dbSNP Id: rs766013576
• ExAC: 10:75331247 G / A
• gnomAD v2: 10-75331247-G-A
• gnomAD v4: 10-73571489-G-A
• COSMIC: COSM5881948 ; COSM5881949
• MyVariant Identifiers: chr10:g.75331247G>A (hg19) ; chr10:g.73571489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73571489G>A , CM000672.2:g.73571489G>A	GRCh38
NC_000010.10:g.75331247G>A , CM000672.1:g.75331247G>A	GRCh37
NC_000010.9:g.75001253G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685297.1:c.172C>T	ENSP00000508456.1:p.Arg58Ter
ENST00000687418.1:c.172C>T	ENSP00000510416.1:p.Arg58Ter
ENST00000687698.1:c.172C>T MANE Select	ENSP00000510226.1:p.Arg58Ter
ENST00000689425.1:c.172C>T	ENSP00000508413.1:p.Arg58Ter
ENST00000691043.1:c.172C>T	ENSP00000508625.1:p.Arg58Ter
ENST00000693251.1:c.172C>T	ENSP00000510202.1:p.Arg58Ter
ENST00000422491.7:c.172C>T	ENSP00000407368.4:p.Arg58Ter
ENST00000680396.1:c.172C>T	ENSP00000505747.1:p.Arg58Ter
ENST00000681793.1:c.172C>T	ENSP00000505692.1:p.Arg58Ter
ENST00000339859.8:c.172C>T	ENSP00000345216.4:p.Arg58Ter
ENST00000408019.5:c.172C>T	ENSP00000386080.1:p.Arg58Ter
ENST00000413442.5:c.172C>T	ENSP00000404710.1:p.Arg58Ter
ENST00000433394.1:c.172C>T	ENSP00000407245.1:p.Arg58Ter
ENST00000451492.5:c.172C>T	ENSP00000402435.1:p.Arg58Ter
ENST00000461520.5:n.172C>T
ENST00000498143.5:n.732C>T
NM_152586.3:c.172C>T	NP_689799.3:p.Arg58Ter
XM_005269582.1:c.172C>T	XP_005269639.1:p.Arg58Ter
XM_006717650.1:c.172C>T	XP_006717713.1:p.Arg58Ter
XM_006717653.1:c.172C>T	XP_006717716.1:p.Arg58Ter
XM_006717654.2:c.172C>T	XP_006717717.1:p.Arg58Ter
XM_011539364.1:c.172C>T	XP_011537666.1:p.Arg58Ter
XM_011539365.1:c.172C>T	XP_011537667.1:p.Arg58Ter
XM_011539366.1:c.172C>T	XP_011537668.1:p.Arg58Ter
XM_011539367.1:c.172C>T	XP_011537669.1:p.Arg58Ter
XM_011539368.1:c.172C>T	XP_011537670.1:p.Arg58Ter
XR_428699.1:n.189C>T
NM_001320437.1:c.172C>T	NP_001307366.1:p.Arg58Ter
NM_001320441.1:c.172C>T	NP_001307370.1:p.Arg58Ter
NM_001350995.1:c.172C>T	NP_001337924.1:p.Arg58Ter
NR_135249.1:n.826C>T
NR_146997.1:n.488C>T
NR_146998.1:n.488C>T
XM_005269582.2:c.172C>T	XP_005269639.1:p.Arg58Ter
XM_011539368.2:c.172C>T	XP_011537670.1:p.Arg58Ter
XM_017015774.1:c.172C>T	XP_016871263.1:p.Arg58Ter
XM_017015775.1:c.172C>T	XP_016871264.1:p.Arg58Ter
XM_017015777.1:c.172C>T	XP_016871266.1:p.Arg58Ter
XM_017015782.2:c.172C>T	XP_016871271.1:p.Arg58Ter
XM_017015783.1:c.172C>T	XP_016871272.1:p.Arg58Ter
XM_017015784.1:c.172C>T	XP_016871273.1:p.Arg58Ter
XM_024447832.1:c.172C>T	XP_024303600.1:p.Arg58Ter
XM_024447833.1:c.172C>T	XP_024303601.1:p.Arg58Ter
XM_024447834.1:c.172C>T	XP_024303602.1:p.Arg58Ter
XM_024447835.1:c.172C>T	XP_024303603.1:p.Arg58Ter
XM_024447836.1:c.172C>T	XP_024303604.1:p.Arg58Ter
XM_024447837.1:c.172C>T	XP_024303605.1:p.Arg58Ter
XM_024447838.1:c.172C>T	XP_024303606.1:p.Arg58Ter
XM_024447839.1:c.172C>T	XP_024303607.1:p.Arg58Ter
XM_024447840.1:c.172C>T	XP_024303608.1:p.Arg58Ter
XM_024447841.1:c.172C>T	XP_024303609.1:p.Arg58Ter
XM_024447842.1:c.172C>T	XP_024303610.1:p.Arg58Ter
XM_024447843.1:c.172C>T	XP_024303611.1:p.Arg58Ter
XM_024447844.1:c.172C>T	XP_024303612.1:p.Arg58Ter
XM_024447845.1:c.172C>T	XP_024303613.1:p.Arg58Ter
XM_024447846.1:c.172C>T	XP_024303614.1:p.Arg58Ter
XM_024447847.1:c.172C>T	XP_024303615.1:p.Arg58Ter
XM_024447848.1:c.172C>T	XP_024303616.1:p.Arg58Ter
XM_024447849.1:c.172C>T	XP_024303617.1:p.Arg58Ter
XM_024447850.1:c.172C>T	XP_024303618.1:p.Arg58Ter
XM_024447851.1:c.172C>T	XP_024303619.1:p.Arg58Ter
XM_024447852.1:c.172C>T	XP_024303620.1:p.Arg58Ter
XR_001747035.1:n.2308C>T
XR_001747036.1:n.3438C>T
XR_001747037.2:n.1845C>T
XR_001747038.1:n.2807C>T
XR_001747039.1:n.3438C>T
XR_001747041.2:n.1159C>T
XR_001747042.1:n.254C>T
XR_001747043.1:n.2308C>T
XR_001747044.1:n.3438C>T
XR_001747046.1:n.2308C>T
XR_001747047.1:n.3438C>T
XR_001747048.1:n.254C>T
XR_002956959.1:n.3438C>T
XR_002956960.1:n.3438C>T
XR_002956961.1:n.3438C>T
XR_002956962.1:n.3438C>T
NM_001320437.2:c.172C>T	NP_001307366.1:p.Arg58Ter
NM_001320441.2:c.172C>T	NP_001307370.1:p.Arg58Ter
NM_001350995.2:c.172C>T	NP_001337924.1:p.Arg58Ter
NR_135249.2:n.818C>T
NR_146997.2:n.480C>T
NR_146998.2:n.480C>T
NM_001378208.1:c.172C>T	NP_001365137.1:p.Arg58Ter
NM_001378209.1:c.172C>T	NP_001365138.1:p.Arg58Ter
NM_001378210.1:c.172C>T	NP_001365139.1:p.Arg58Ter
NM_001391941.1:c.172C>T	NP_001378870.1:p.Arg58Ter
NM_001391942.1:c.172C>T	NP_001378871.1:p.Arg58Ter
NM_001391945.1:c.172C>T	NP_001378874.1:p.Arg58Ter
NM_001391946.1:c.172C>T	NP_001378875.1:p.Arg58Ter
NM_001391947.1:c.172C>T	NP_001378876.1:p.Arg58Ter
NM_001391948.1:c.172C>T	NP_001378877.1:p.Arg58Ter
NM_001391949.1:c.172C>T	NP_001378878.1:p.Arg58Ter
NM_001391950.1:c.172C>T	NP_001378879.1:p.Arg58Ter
NM_001391951.1:c.172C>T	NP_001378880.1:p.Arg58Ter
NM_001391952.1:c.172C>T	NP_001378881.1:p.Arg58Ter
NM_001391953.1:c.172C>T	NP_001378882.1:p.Arg58Ter
NM_001391954.1:c.172C>T	NP_001378883.1:p.Arg58Ter
NM_001391955.1:c.172C>T	NP_001378884.1:p.Arg58Ter
NM_001391956.1:c.172C>T MANE Select	NP_001378885.1:p.Arg58Ter
NM_152586.4:c.172C>T	NP_689799.3:p.Arg58Ter
NR_165442.1:n.818C>T
NR_165443.1:n.818C>T