Canonical Allele Identifier: CA450879599

Gene: MTO1 EEF1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73497890A>G , CM000668.2:g.73497890A>G	GRCh38
NC_000006.11:g.74207613A>G , CM000668.1:g.74207613A>G	GRCh37
NC_000006.10:g.74264334A>G	NCBI36
NG_032856.1:g.41160A>G
NG_032856.2:g.41160A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012123.4:c.1911A>G (MTO1) MANE Select	NP_036255.2:p.Pro637=
ENST00000498286.6:c.1911A>G (MTO1) MANE Select	ENSP00000419561.2:p.Pro637=
NM_001123226.1:c.2031A>G (MTO1)	NP_001116698.1:p.Pro677=
NM_001123226.2:c.2031A>G (MTO1)	NP_001116698.1:p.Pro677=
NM_012123.3:c.1911A>G (MTO1)	NP_036255.2:p.Pro637=
NM_133645.2:c.1986A>G (MTO1)	NP_598400.1:p.Pro662=
NM_133645.3:c.1986A>G (MTO1)	NP_598400.1:p.Pro662=
ENST00000370300.8:c.1986A>G (MTO1)	ENSP00000359323.4:p.Pro662=
ENST00000370305.5:c.1764A>G (MTO1)	ENSP00000359328.1:p.Pro588=
ENST00000370308.8:n.2092A>G (MTO1)
ENST00000415228.5:c.*1042A>G (MTO1)	ENSP00000416397.1:n.*1042A>G
ENST00000415954.6:c.2031A>G (MTO1)	ENSP00000402038.2:p.Pro677=
ENST00000442897.7:c.*888-2684A>G (MTO1)	ENSP00000396529.2:n.*888-2684A>G
ENST00000445187.6:c.*899-2684A>G (MTO1)	ENSP00000407580.2:n.*899-2684A>G
ENST00000462039.5:n.1933A>G (MTO1)
ENST00000487960.2:n.1839-2684A>G (MTO1)
ENST00000498286.5:c.1911A>G (MTO1)	ENSP00000419561.1:p.Pro637=
ENST00000521156.5:c.422-2684A>G (MTO1)	ENSP00000428863.1:n.422-2684A>G
ENST00000521156.6:c.1535-2684A>G (MTO1)	ENSP00000428863.2:n.1535-2684A>G
ENST00000522205.6:c.*1300-2684A>G (MTO1)	ENSP00000428903.2:n.*1300-2684A>G
ENST00000523763.1:c.569-2684A>G (MTO1)
ENST00000523763.2:c.1921-2684A>G (MTO1)	ENSP00000429595.2:n.1921-2684A>G
ENST00000524046.2:c.*1350-2684A>G (MTO1)	ENSP00000430660.2:n.*1350-2684A>G
ENST00000676547.1:c.1030-5086T>C (EEF1A1)	ENSP00000503518.1:n.1030-5086T>C
ENST00000679352.1:c.*1283A>G (MTO1)	ENSP00000505776.1:n.*1283A>G
ENST00000679364.1:c.*1053A>G (MTO1)	ENSP00000505626.1:n.*1053A>G
ENST00000679411.1:c.*1706A>G (MTO1)	ENSP00000506532.1:n.*1706A>G
ENST00000679418.1:c.*1465A>G (MTO1)	ENSP00000505278.1:n.*1465A>G
ENST00000679524.1:c.*1165A>G (MTO1)	ENSP00000505038.1:n.*1165A>G
ENST00000679591.1:c.1904A>G (MTO1)	ENSP00000505656.1:n.1904A>G
ENST00000679592.1:c.*1725A>G (MTO1)	ENSP00000505736.1:n.*1725A>G
ENST00000679604.1:c.*1053A>G (MTO1)	ENSP00000506268.1:n.*1053A>G
ENST00000679612.1:n.2122-2684A>G (MTO1)
ENST00000679627.1:c.*755A>G (MTO1)	ENSP00000505373.1:n.*755A>G
ENST00000679675.1:c.*389A>G (MTO1)	ENSP00000505458.1:n.*389A>G
ENST00000679730.1:c.*947A>G (MTO1)	ENSP00000506698.1:n.*947A>G
ENST00000679763.1:n.523A>G (MTO1)
ENST00000679808.1:c.*892A>G (MTO1)	ENSP00000506127.1:n.*892A>G
ENST00000679870.1:c.*1311-2684A>G (MTO1)	ENSP00000505401.1:n.*1311-2684A>G
ENST00000679900.1:c.*955A>G (MTO1)	ENSP00000505653.1:n.*955A>G
ENST00000679905.1:c.*389A>G (MTO1)	ENSP00000505787.1:n.*389A>G
ENST00000679947.1:c.*755A>G (MTO1)	ENSP00000506630.1:n.*755A>G
ENST00000679993.1:n.1990A>G (MTO1)
ENST00000680034.1:c.*1158A>G (MTO1)	ENSP00000505785.1:n.*1158A>G
ENST00000680131.1:c.*644A>G (MTO1)	ENSP00000505906.1:n.*644A>G
ENST00000680195.1:n.2108A>G (MTO1)
ENST00000680238.1:c.*1454A>G (MTO1)	ENSP00000506260.1:n.*1454A>G
ENST00000680266.1:n.2440A>G (MTO1)
ENST00000680289.1:c.*1454A>G (MTO1)	ENSP00000505097.1:n.*1454A>G
ENST00000680350.1:n.1899A>G (MTO1)
ENST00000680405.1:n.2243A>G (MTO1)
ENST00000680428.1:c.*868A>G (MTO1)	ENSP00000506210.1:n.*868A>G
ENST00000680544.1:c.*1249A>G (MTO1)	ENSP00000506702.1:n.*1249A>G
ENST00000680563.1:c.1570A>G (MTO1)
ENST00000680570.1:n.2287A>G (MTO1)
ENST00000680601.1:c.*1281-2684A>G (MTO1)	ENSP00000506582.1:n.*1281-2684A>G
ENST00000680609.1:c.*1042A>G (MTO1)	ENSP00000505053.1:n.*1042A>G
ENST00000680686.1:c.1689A>G (MTO1)	ENSP00000506609.1:p.Pro563=
ENST00000680758.1:c.*1676A>G (MTO1)	ENSP00000505192.1:n.*1676A>G
ENST00000680775.1:c.*1289A>G (MTO1)	ENSP00000505199.1:n.*1289A>G
ENST00000680794.1:c.*1490A>G (MTO1)	ENSP00000506362.1:n.*1490A>G
ENST00000680841.1:c.1736-2684A>G (MTO1)	ENSP00000506524.1:n.1736-2684A>G
ENST00000680875.1:c.*523A>G (MTO1)	ENSP00000506042.1:n.*523A>G
ENST00000680902.1:c.*710A>G (MTO1)	ENSP00000505813.1:n.*710A>G
ENST00000681094.1:c.*728A>G (MTO1)	ENSP00000505394.1:n.*728A>G
ENST00000681141.1:c.*1299A>G (MTO1)	ENSP00000506035.1:n.*1299A>G
ENST00000681165.1:c.*1465A>G (MTO1)	ENSP00000506088.1:n.*1465A>G
ENST00000681204.1:c.1757-2684A>G (MTO1)	ENSP00000505819.1:n.1757-2684A>G
ENST00000681212.1:n.2187A>G (MTO1)
ENST00000681254.1:c.*1570A>G (MTO1)	ENSP00000506575.1:n.*1570A>G
ENST00000681267.1:c.*523A>G (MTO1)	ENSP00000506570.1:n.*523A>G
ENST00000681284.1:n.2276A>G (MTO1)
ENST00000681294.1:c.*1032A>G (MTO1)	ENSP00000505615.1:n.*1032A>G
ENST00000681337.1:c.*728A>G (MTO1)	ENSP00000506108.1:n.*728A>G
ENST00000681438.1:c.*665A>G (MTO1)	ENSP00000505135.1:n.*665A>G
ENST00000681500.1:c.1629A>G (MTO1)	ENSP00000506439.1:p.Pro543=
ENST00000681509.1:c.*644A>G (MTO1)	ENSP00000506571.1:n.*644A>G
ENST00000681579.1:c.*389A>G (MTO1)	ENSP00000505732.1:n.*389A>G
ENST00000681610.1:c.*250A>G (MTO1)	ENSP00000505229.1:n.*250A>G
ENST00000681620.1:c.*550A>G (MTO1)	ENSP00000505386.1:n.*550A>G
ENST00000681624.1:c.*1678A>G (MTO1)	ENSP00000505820.1:n.*1678A>G
ENST00000681691.1:c.1757-1021A>G (MTO1)	ENSP00000505613.1:n.1757-1021A>G
ENST00000681705.1:c.*490-2684A>G (MTO1)	ENSP00000506381.1:n.*490-2684A>G
ENST00000681890.1:c.*808A>G (MTO1)	ENSP00000505751.1:n.*808A>G
ENST00000681932.1:c.*1224A>G (MTO1)	ENSP00000505826.1:n.*1224A>G
XM_006715444.2:c.1689A>G (MTO1)	XP_006715507.1:p.Pro563=
XM_006715445.2:c.1689A>G (MTO1)	XP_006715508.1:p.Pro563=
XM_006715446.2:c.1757-2684A>G (MTO1)	XP_006715509.1:n.1757-2684A>G
XM_011535723.1:c.1500A>G (MTO1)	XP_011534025.1:p.Pro500=
XM_011535724.1:c.1500A>G (MTO1)	XP_011534026.1:p.Pro500=
XM_011535725.1:c.1500A>G (MTO1)	XP_011534027.1:p.Pro500=