Canonical Allele Identifier: CA358030328

Gene: USP53

Linked Data

• ClinVar Variation Id: 2617322
• ClinVar RCV Id: RCV003374224
• MyVariant Identifiers: chr4:g.120182904A>T (hg19) ; chr4:g.119261749A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119261749A>T , CM000666.2:g.119261749A>T	GRCh38
NC_000004.11:g.120182904A>T , CM000666.1:g.120182904A>T	GRCh37
NC_000004.10:g.120402352A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274030.11:c.857A>T	ENSP00000274030.6:p.Asn286Ile
ENST00000450251.6:c.857A>T	ENSP00000409906.1:p.Asn286Ile
ENST00000688980.1:c.857A>T	ENSP00000509357.1:p.Asn286Ile
ENST00000692078.1:c.857A>T MANE Select	ENSP00000509606.1:p.Asn286Ile
ENST00000274030.10:c.857A>T	ENSP00000274030.5:p.Asn286Ile
ENST00000450251.5:c.857A>T	ENSP00000409906.1:p.Asn286Ile
ENST00000509769.5:c.857A>T	ENSP00000426628.1:p.Asn286Ile
NM_019050.2:c.857A>T	NP_061923.2:p.Asn286Ile
XM_005263073.2:c.857A>T	XP_005263130.1:p.Asn286Ile
XM_005263074.3:c.857A>T	XP_005263131.1:p.Asn286Ile
XM_005263075.1:c.822+1096A>T	XP_005263132.1:n.822+1096A>T
XM_005263076.1:c.857A>T	XP_005263133.1:p.Asn286Ile
XM_005263077.2:c.857A>T	XP_005263134.1:p.Asn286Ile
XM_005263078.2:c.857A>T	XP_005263135.1:p.Asn286Ile
XM_006714240.1:c.509A>T	XP_006714303.1:p.Asn170Ile
XM_011532037.1:c.857A>T	XP_011530339.1:p.Asn286Ile
XM_011532038.1:c.509A>T	XP_011530340.1:p.Asn170Ile
XM_005263073.4:c.857A>T	XP_005263130.1:p.Asn286Ile
XM_005263075.3:c.822+1096A>T	XP_005263132.1:n.822+1096A>T
XM_005263076.3:c.857A>T	XP_005263133.1:p.Asn286Ile
XM_005263077.4:c.857A>T	XP_005263134.1:p.Asn286Ile
XM_011532037.2:c.857A>T	XP_011530339.1:p.Asn286Ile
XM_011532038.2:c.509A>T	XP_011530340.1:p.Asn170Ile
XM_017008312.2:c.857A>T	XP_016863801.1:p.Asn286Ile
XM_017008313.1:c.857A>T	XP_016863802.1:p.Asn286Ile
XM_017008314.1:c.857A>T	XP_016863803.1:p.Asn286Ile
XM_017008315.2:c.857A>T	XP_016863804.1:p.Asn286Ile
XM_017008316.2:c.857A>T	XP_016863805.1:p.Asn286Ile
XM_017008317.2:c.857A>T	XP_016863806.1:p.Asn286Ile
XM_017008318.2:c.857A>T	XP_016863807.1:p.Asn286Ile
NM_001371395.1:c.857A>T MANE Select	NP_001358324.1:p.Asn286Ile
NM_001371396.1:c.857A>T	NP_001358325.1:p.Asn286Ile
NM_001371397.1:c.857A>T	NP_001358326.1:p.Asn286Ile
NM_001371398.1:c.857A>T	NP_001358327.1:p.Asn286Ile
NM_001371399.1:c.857A>T	NP_001358328.1:p.Asn286Ile
NM_001389658.1:c.857A>T	NP_001376587.1:p.Asn286Ile
NM_001389659.1:c.857A>T	NP_001376588.1:p.Asn286Ile
NM_001389660.1:c.822+1096A>T	NP_001376589.1:n.822+1096A>T
NM_001389661.1:c.857A>T	NP_001376590.1:p.Asn286Ile
NM_001389662.1:c.509A>T	NP_001376591.1:p.Asn170Ile
NM_001389663.1:c.509A>T	NP_001376592.1:p.Asn170Ile
NM_001389664.1:c.509A>T	NP_001376593.1:p.Asn170Ile
NM_001389665.1:c.509A>T	NP_001376594.1:p.Asn170Ile
NM_001389666.1:c.509A>T	NP_001376595.1:p.Asn170Ile
NM_001389667.1:c.509A>T	NP_001376596.1:p.Asn170Ile
NM_019050.3:c.857A>T	NP_061923.2:p.Asn286Ile