Canonical Allele Identifier: CA3059173
Gene: USP53 HGNC NCBI

Linked Data

ClinVar Variation Id: 2589073
dbSNP Id: rs200674564

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119271314T>C , CM000666.2:g.119271314T>C GRCh38
NC_000004.11:g.120192469T>C , CM000666.1:g.120192469T>C GRCh37
NC_000004.10:g.120411917T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274030.11:c.1454T>C ENSP00000274030.6:p.Leu485Pro
ENST00000450251.6:c.1454T>C ENSP00000409906.1:p.Leu485Pro
ENST00000688980.1:c.1454T>C ENSP00000509357.1:p.Leu485Pro
ENST00000692078.1:c.1454T>C MANE Select ENSP00000509606.1:p.Leu485Pro
ENST00000274030.10:c.1454T>C ENSP00000274030.5:p.Leu485Pro
ENST00000450251.5:c.1454T>C ENSP00000409906.1:p.Leu485Pro
ENST00000507906.5:c.507T>C ENSP00000421729.1:n.507T>C
ENST00000509769.5:c.*504T>C ENSP00000426628.1:n.*504T>C
ENST00000510852.1:n.421T>C
NM_019050.2:c.1454T>C NP_061923.2:p.Leu485Pro
XM_005263073.2:c.1454T>C XP_005263130.1:p.Leu485Pro
XM_005263074.3:c.1454T>C XP_005263131.1:p.Leu485Pro
XM_005263075.1:c.1304T>C XP_005263132.1:p.Leu435Pro
XM_005263076.1:c.1301T>C XP_005263133.1:p.Leu434Pro
XM_005263077.2:c.1454T>C XP_005263134.1:p.Leu485Pro
XM_006714240.1:c.1106T>C XP_006714303.1:p.Leu369Pro
XM_011532037.1:c.1454T>C XP_011530339.1:p.Leu485Pro
XM_011532038.1:c.1106T>C XP_011530340.1:p.Leu369Pro
XM_005263073.4:c.1454T>C XP_005263130.1:p.Leu485Pro
XM_005263075.3:c.1304T>C XP_005263132.1:p.Leu435Pro
XM_005263076.3:c.1301T>C XP_005263133.1:p.Leu434Pro
XM_005263077.4:c.1454T>C XP_005263134.1:p.Leu485Pro
XM_011532037.2:c.1454T>C XP_011530339.1:p.Leu485Pro
XM_011532038.2:c.1106T>C XP_011530340.1:p.Leu369Pro
XM_017008312.2:c.1454T>C XP_016863801.1:p.Leu485Pro
XM_017008313.1:c.1454T>C XP_016863802.1:p.Leu485Pro
XM_017008314.1:c.1454T>C XP_016863803.1:p.Leu485Pro
XM_017008315.2:c.1454T>C XP_016863804.1:p.Leu485Pro
XM_017008316.2:c.1301T>C XP_016863805.1:p.Leu434Pro
XM_017008317.2:c.1454T>C XP_016863806.1:p.Leu485Pro
XM_017008318.2:c.1454T>C XP_016863807.1:p.Leu485Pro
NM_001371395.1:c.1454T>C MANE Select NP_001358324.1:p.Leu485Pro
NM_001371396.1:c.1301T>C NP_001358325.1:p.Leu434Pro
NM_001371397.1:c.1454T>C NP_001358326.1:p.Leu485Pro
NM_001371398.1:c.1454T>C NP_001358327.1:p.Leu485Pro
NM_001371399.1:c.1454T>C NP_001358328.1:p.Leu485Pro
NM_001389658.1:c.1454T>C NP_001376587.1:p.Leu485Pro
NM_001389659.1:c.1454T>C NP_001376588.1:p.Leu485Pro
NM_001389660.1:c.1304T>C NP_001376589.1:p.Leu435Pro
NM_001389661.1:c.1301T>C NP_001376590.1:p.Leu434Pro
NM_001389662.1:c.1106T>C NP_001376591.1:p.Leu369Pro
NM_001389663.1:c.1106T>C NP_001376592.1:p.Leu369Pro
NM_001389664.1:c.1106T>C NP_001376593.1:p.Leu369Pro
NM_001389665.1:c.953T>C NP_001376594.1:p.Leu318Pro
NM_001389666.1:c.1106T>C NP_001376595.1:p.Leu369Pro
NM_001389667.1:c.953T>C NP_001376596.1:p.Leu318Pro
NM_019050.3:c.1454T>C NP_061923.2:p.Leu485Pro