Canonical Allele Identifier: CA364701067
Community Standard Title: NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73497828T>A , CM000668.2:g.73497828T>A GRCh38
NC_000006.11:g.74207551T>A , CM000668.1:g.74207551T>A GRCh37
NC_000006.10:g.74264272T>A NCBI36
NG_032856.1:g.41098T>A
NG_032856.2:g.41098T>A

Transcript Alleles

HGVS Amino-acid Change
NM_012123.4:c.1849T>A (MTO1) MANE Select NP_036255.2:p.Leu617Met
ENST00000498286.6:c.1849T>A (MTO1) MANE Select ENSP00000419561.2:p.Leu617Met
NM_001123226.1:c.1969T>A (MTO1) NP_001116698.1:p.Leu657Met
NM_001123226.2:c.1969T>A (MTO1) NP_001116698.1:p.Leu657Met
NM_012123.3:c.1849T>A (MTO1) NP_036255.2:p.Leu617Met
NM_133645.2:c.1924T>A (MTO1) NP_598400.1:p.Leu642Met
NM_133645.3:c.1924T>A (MTO1) NP_598400.1:p.Leu642Met
ENST00000370300.8:c.1924T>A (MTO1) ENSP00000359323.4:p.Leu642Met
ENST00000370305.5:c.1702T>A (MTO1) ENSP00000359328.1:p.Leu568Met
ENST00000370308.8:n.2030T>A (MTO1)
ENST00000415228.5:c.*980T>A (MTO1) ENSP00000416397.1:n.*980T>A
ENST00000415954.6:c.1969T>A (MTO1) ENSP00000402038.2:p.Leu657Met
ENST00000442897.7:c.*888-2746T>A (MTO1) ENSP00000396529.2:n.*888-2746T>A
ENST00000445187.6:c.*899-2746T>A (MTO1) ENSP00000407580.2:n.*899-2746T>A
ENST00000462039.5:n.1871T>A (MTO1)
ENST00000487960.2:n.1839-2746T>A (MTO1)
ENST00000498286.5:c.1849T>A (MTO1) ENSP00000419561.1:p.Leu617Met
ENST00000521156.5:c.422-2746T>A (MTO1) ENSP00000428863.1:n.422-2746T>A
ENST00000521156.6:c.1535-2746T>A (MTO1) ENSP00000428863.2:n.1535-2746T>A
ENST00000522205.6:c.*1300-2746T>A (MTO1) ENSP00000428903.2:n.*1300-2746T>A
ENST00000523763.1:c.569-2746T>A (MTO1)
ENST00000523763.2:c.1921-2746T>A (MTO1) ENSP00000429595.2:n.1921-2746T>A
ENST00000524046.2:c.*1350-2746T>A (MTO1) ENSP00000430660.2:n.*1350-2746T>A
ENST00000676547.1:c.1030-5024A>T (EEF1A1) ENSP00000503518.1:n.1030-5024A>T
ENST00000679352.1:c.*1221T>A (MTO1) ENSP00000505776.1:n.*1221T>A
ENST00000679364.1:c.*991T>A (MTO1) ENSP00000505626.1:n.*991T>A
ENST00000679411.1:c.*1644T>A (MTO1) ENSP00000506532.1:n.*1644T>A
ENST00000679418.1:c.*1403T>A (MTO1) ENSP00000505278.1:n.*1403T>A
ENST00000679524.1:c.*1103T>A (MTO1) ENSP00000505038.1:n.*1103T>A
ENST00000679591.1:c.1842T>A (MTO1) ENSP00000505656.1:n.1842T>A
ENST00000679592.1:c.*1663T>A (MTO1) ENSP00000505736.1:n.*1663T>A
ENST00000679604.1:c.*991T>A (MTO1) ENSP00000506268.1:n.*991T>A
ENST00000679612.1:n.2122-2746T>A (MTO1)
ENST00000679627.1:c.*693T>A (MTO1) ENSP00000505373.1:n.*693T>A
ENST00000679675.1:c.*327T>A (MTO1) ENSP00000505458.1:n.*327T>A
ENST00000679730.1:c.*885T>A (MTO1) ENSP00000506698.1:n.*885T>A
ENST00000679763.1:n.461T>A (MTO1)
ENST00000679808.1:c.*830T>A (MTO1) ENSP00000506127.1:n.*830T>A
ENST00000679870.1:c.*1311-2746T>A (MTO1) ENSP00000505401.1:n.*1311-2746T>A
ENST00000679900.1:c.*893T>A (MTO1) ENSP00000505653.1:n.*893T>A
ENST00000679905.1:c.*327T>A (MTO1) ENSP00000505787.1:n.*327T>A
ENST00000679947.1:c.*693T>A (MTO1) ENSP00000506630.1:n.*693T>A
ENST00000679993.1:n.1928T>A (MTO1)
ENST00000680034.1:c.*1096T>A (MTO1) ENSP00000505785.1:n.*1096T>A
ENST00000680131.1:c.*582T>A (MTO1) ENSP00000505906.1:n.*582T>A
ENST00000680195.1:n.2046T>A (MTO1)
ENST00000680238.1:c.*1392T>A (MTO1) ENSP00000506260.1:n.*1392T>A
ENST00000680266.1:n.2378T>A (MTO1)
ENST00000680289.1:c.*1392T>A (MTO1) ENSP00000505097.1:n.*1392T>A
ENST00000680350.1:n.1837T>A (MTO1)
ENST00000680405.1:n.2181T>A (MTO1)
ENST00000680428.1:c.*806T>A (MTO1) ENSP00000506210.1:n.*806T>A
ENST00000680544.1:c.*1187T>A (MTO1) ENSP00000506702.1:n.*1187T>A
ENST00000680563.1:c.1508T>A (MTO1)
ENST00000680570.1:n.2225T>A (MTO1)
ENST00000680601.1:c.*1281-2746T>A (MTO1) ENSP00000506582.1:n.*1281-2746T>A
ENST00000680609.1:c.*980T>A (MTO1) ENSP00000505053.1:n.*980T>A
ENST00000680686.1:c.1627T>A (MTO1) ENSP00000506609.1:p.Leu543Met
ENST00000680758.1:c.*1614T>A (MTO1) ENSP00000505192.1:n.*1614T>A
ENST00000680775.1:c.*1227T>A (MTO1) ENSP00000505199.1:n.*1227T>A
ENST00000680794.1:c.*1428T>A (MTO1) ENSP00000506362.1:n.*1428T>A
ENST00000680841.1:c.1736-2746T>A (MTO1) ENSP00000506524.1:n.1736-2746T>A
ENST00000680875.1:c.*461T>A (MTO1) ENSP00000506042.1:n.*461T>A
ENST00000680902.1:c.*648T>A (MTO1) ENSP00000505813.1:n.*648T>A
ENST00000681094.1:c.*666T>A (MTO1) ENSP00000505394.1:n.*666T>A
ENST00000681141.1:c.*1237T>A (MTO1) ENSP00000506035.1:n.*1237T>A
ENST00000681165.1:c.*1403T>A (MTO1) ENSP00000506088.1:n.*1403T>A
ENST00000681204.1:c.1757-2746T>A (MTO1) ENSP00000505819.1:n.1757-2746T>A
ENST00000681212.1:n.2125T>A (MTO1)
ENST00000681254.1:c.*1508T>A (MTO1) ENSP00000506575.1:n.*1508T>A
ENST00000681267.1:c.*461T>A (MTO1) ENSP00000506570.1:n.*461T>A
ENST00000681284.1:n.2214T>A (MTO1)
ENST00000681294.1:c.*970T>A (MTO1) ENSP00000505615.1:n.*970T>A
ENST00000681337.1:c.*666T>A (MTO1) ENSP00000506108.1:n.*666T>A
ENST00000681438.1:c.*603T>A (MTO1) ENSP00000505135.1:n.*603T>A
ENST00000681500.1:c.1567T>A (MTO1) ENSP00000506439.1:p.Leu523Met
ENST00000681509.1:c.*582T>A (MTO1) ENSP00000506571.1:n.*582T>A
ENST00000681579.1:c.*327T>A (MTO1) ENSP00000505732.1:n.*327T>A
ENST00000681610.1:c.*188T>A (MTO1) ENSP00000505229.1:n.*188T>A
ENST00000681620.1:c.*488T>A (MTO1) ENSP00000505386.1:n.*488T>A
ENST00000681624.1:c.*1616T>A (MTO1) ENSP00000505820.1:n.*1616T>A
ENST00000681691.1:c.1757-1083T>A (MTO1) ENSP00000505613.1:n.1757-1083T>A
ENST00000681705.1:c.*490-2746T>A (MTO1) ENSP00000506381.1:n.*490-2746T>A
ENST00000681890.1:c.*746T>A (MTO1) ENSP00000505751.1:n.*746T>A
ENST00000681932.1:c.*1162T>A (MTO1) ENSP00000505826.1:n.*1162T>A
XM_006715444.2:c.1627T>A (MTO1) XP_006715507.1:p.Leu543Met
XM_006715445.2:c.1627T>A (MTO1) XP_006715508.1:p.Leu543Met
XM_006715446.2:c.1757-2746T>A (MTO1) XP_006715509.1:n.1757-2746T>A
XM_011535723.1:c.1438T>A (MTO1) XP_011534025.1:p.Leu480Met
XM_011535724.1:c.1438T>A (MTO1) XP_011534026.1:p.Leu480Met
XM_011535725.1:c.1438T>A (MTO1) XP_011534027.1:p.Leu480Met