Canonical Allele Identifier: CA2739273233
Community Standard Title: NM_012123.4(MTO1):c.2064dup (p.Glu689ArgfsTer10)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73500720dup , CM000668.2:g.73500720dup GRCh38
NC_000006.11:g.74210443dup , CM000668.1:g.74210443dup GRCh37
NC_000006.10:g.74267164dup NCBI36
NG_032856.1:g.43990dup
NG_032856.2:g.43990dup

Transcript Alleles

HGVS Amino-acid Change
NM_012123.4:c.2064dup (MTO1) MANE Select NP_036255.2:p.Glu689ArgfsTer10
ENST00000498286.6:c.2064dup (MTO1) MANE Select ENSP00000419561.2:p.Glu689ArgfsTer10
NM_001123226.1:c.2184dup (MTO1) NP_001116698.1:p.Glu729ArgfsTer10
NM_001123226.2:c.2184dup (MTO1) NP_001116698.1:p.Glu729ArgfsTer10
NM_012123.3:c.2064dup (MTO1) NP_036255.2:p.Glu689ArgfsTer10
NM_133645.2:c.2139dup (MTO1) NP_598400.1:p.Glu714ArgfsTer10
NM_133645.3:c.2139dup (MTO1) NP_598400.1:p.Glu714ArgfsTer10
ENST00000370300.8:c.2139dup (MTO1) ENSP00000359323.4:p.Glu714ArgfsTer10
ENST00000370305.5:c.1917dup (MTO1) ENSP00000359328.1:p.Glu640ArgfsTer10
ENST00000370308.8:n.2245dup (MTO1)
ENST00000415228.5:c.*1195dup (MTO1) ENSP00000416397.1:n.*1195dup
ENST00000415954.6:c.2184dup (MTO1) ENSP00000402038.2:p.Glu729ArgfsTer10
ENST00000442897.7:c.*1034dup (MTO1) ENSP00000396529.2:n.*1034dup
ENST00000445187.6:c.*1045dup (MTO1) ENSP00000407580.2:n.*1045dup
ENST00000462039.5:n.2086dup (MTO1)
ENST00000487960.2:n.1985dup (MTO1)
ENST00000498286.5:c.2064dup (MTO1) ENSP00000419561.1:p.Glu689ArgfsTer10
ENST00000521156.5:c.568dup (MTO1) ENSP00000428863.1:n.568dup
ENST00000521156.6:c.*133dup (MTO1) ENSP00000428863.2:n.*133dup
ENST00000522205.6:c.*1446dup (MTO1) ENSP00000428903.2:n.*1446dup
ENST00000524046.2:c.*1496dup (MTO1) ENSP00000430660.2:n.*1496dup
ENST00000676547.1:c.1030-7915dup (EEF1A1) ENSP00000503518.1:n.1030-7915dup
ENST00000679352.1:c.*1436dup (MTO1) ENSP00000505776.1:n.*1436dup
ENST00000679364.1:c.*1206dup (MTO1) ENSP00000505626.1:n.*1206dup
ENST00000679411.1:c.*1859dup (MTO1) ENSP00000506532.1:n.*1859dup
ENST00000679418.1:c.*1618dup (MTO1) ENSP00000505278.1:n.*1618dup
ENST00000679524.1:c.*1318dup (MTO1) ENSP00000505038.1:n.*1318dup
ENST00000679591.1:c.2057dup (MTO1) ENSP00000505656.1:n.2057dup
ENST00000679592.1:c.*1878dup (MTO1) ENSP00000505736.1:n.*1878dup
ENST00000679604.1:c.*1206dup (MTO1) ENSP00000506268.1:n.*1206dup
ENST00000679612.1:n.2268dup (MTO1)
ENST00000679627.1:c.*908dup (MTO1) ENSP00000505373.1:n.*908dup
ENST00000679675.1:c.*542dup (MTO1) ENSP00000505458.1:n.*542dup
ENST00000679730.1:c.*1100dup (MTO1) ENSP00000506698.1:n.*1100dup
ENST00000679763.1:n.676dup (MTO1)
ENST00000679808.1:c.*1045dup (MTO1) ENSP00000506127.1:n.*1045dup
ENST00000679870.1:c.*1457dup (MTO1) ENSP00000505401.1:n.*1457dup
ENST00000679900.1:c.*1108dup (MTO1) ENSP00000505653.1:n.*1108dup
ENST00000679905.1:c.*542dup (MTO1) ENSP00000505787.1:n.*542dup
ENST00000679947.1:c.*908dup (MTO1) ENSP00000506630.1:n.*908dup
ENST00000679993.1:n.2143dup (MTO1)
ENST00000680034.1:c.*1311dup (MTO1) ENSP00000505785.1:n.*1311dup
ENST00000680131.1:c.*797dup (MTO1) ENSP00000505906.1:n.*797dup
ENST00000680195.1:n.2261dup (MTO1)
ENST00000680238.1:c.*1607dup (MTO1) ENSP00000506260.1:n.*1607dup
ENST00000680266.1:n.2593dup (MTO1)
ENST00000680289.1:c.*1607dup (MTO1) ENSP00000505097.1:n.*1607dup
ENST00000680350.1:n.2052dup (MTO1)
ENST00000680405.1:n.2396dup (MTO1)
ENST00000680428.1:c.*1021dup (MTO1) ENSP00000506210.1:n.*1021dup
ENST00000680544.1:c.*1402dup (MTO1) ENSP00000506702.1:n.*1402dup
ENST00000680563.1:c.1723dup (MTO1)
ENST00000680570.1:n.2440dup (MTO1)
ENST00000680601.1:c.*1427dup (MTO1) ENSP00000506582.1:n.*1427dup
ENST00000680609.1:c.*1195dup (MTO1) ENSP00000505053.1:n.*1195dup
ENST00000680686.1:c.1842dup (MTO1) ENSP00000506609.1:p.Glu615ArgfsTer10
ENST00000680758.1:c.*1829dup (MTO1) ENSP00000505192.1:n.*1829dup
ENST00000680775.1:c.*1442dup (MTO1) ENSP00000505199.1:n.*1442dup
ENST00000680794.1:c.*1643dup (MTO1) ENSP00000506362.1:n.*1643dup
ENST00000680841.1:c.1882dup (MTO1) ENSP00000506524.1:n.1882dup
ENST00000680875.1:c.*676dup (MTO1) ENSP00000506042.1:n.*676dup
ENST00000680902.1:c.*863dup (MTO1) ENSP00000505813.1:n.*863dup
ENST00000681094.1:c.*881dup (MTO1) ENSP00000505394.1:n.*881dup
ENST00000681141.1:c.*1452dup (MTO1) ENSP00000506035.1:n.*1452dup
ENST00000681165.1:c.*1618dup (MTO1) ENSP00000506088.1:n.*1618dup
ENST00000681204.1:c.*133dup (MTO1) ENSP00000505819.1:n.*133dup
ENST00000681212.1:n.2340dup (MTO1)
ENST00000681254.1:c.*1723dup (MTO1) ENSP00000506575.1:n.*1723dup
ENST00000681267.1:c.*676dup (MTO1) ENSP00000506570.1:n.*676dup
ENST00000681284.1:n.2429dup (MTO1)
ENST00000681294.1:c.*1185dup (MTO1) ENSP00000505615.1:n.*1185dup
ENST00000681337.1:c.*881dup (MTO1) ENSP00000506108.1:n.*881dup
ENST00000681438.1:c.*818dup (MTO1) ENSP00000505135.1:n.*818dup
ENST00000681500.1:c.1782dup (MTO1) ENSP00000506439.1:p.Glu595ArgfsTer10
ENST00000681509.1:c.*797dup (MTO1) ENSP00000506571.1:n.*797dup
ENST00000681579.1:c.*542dup (MTO1) ENSP00000505732.1:n.*542dup
ENST00000681610.1:c.*403dup (MTO1) ENSP00000505229.1:n.*403dup
ENST00000681620.1:c.*703dup (MTO1) ENSP00000505386.1:n.*703dup
ENST00000681624.1:c.*1831dup (MTO1) ENSP00000505820.1:n.*1831dup
ENST00000681691.1:c.*238dup (MTO1) ENSP00000505613.1:n.*238dup
ENST00000681705.1:c.*636dup (MTO1) ENSP00000506381.1:n.*636dup
ENST00000681890.1:c.*961dup (MTO1) ENSP00000505751.1:n.*961dup
ENST00000681932.1:c.*1377dup (MTO1) ENSP00000505826.1:n.*1377dup
XM_006715444.2:c.1842dup (MTO1) XP_006715507.1:p.Glu615ArgfsTer10
XM_006715445.2:c.1842dup (MTO1) XP_006715508.1:p.Glu615ArgfsTer10
XM_011535723.1:c.1653dup (MTO1) XP_011534025.1:p.Glu552ArgfsTer10
XM_011535724.1:c.1653dup (MTO1) XP_011534026.1:p.Glu552ArgfsTer10
XM_011535725.1:c.1653dup (MTO1) XP_011534027.1:p.Glu552ArgfsTer10