Canonical Allele Identifier: CA364701643
Community Standard Title: NM_012123.4(MTO1):c.1927G>C (p.Ala643Pro)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73500583G>C , CM000668.2:g.73500583G>C GRCh38
NC_000006.11:g.74210306G>C , CM000668.1:g.74210306G>C GRCh37
NC_000006.10:g.74267027G>C NCBI36
NG_032856.1:g.43853G>C
NG_032856.2:g.43853G>C

Transcript Alleles

HGVS Amino-acid Change
NM_012123.4:c.1927G>C (MTO1) MANE Select NP_036255.2:p.Ala643Pro
ENST00000498286.6:c.1927G>C (MTO1) MANE Select ENSP00000419561.2:p.Ala643Pro
NM_001123226.1:c.2047G>C (MTO1) NP_001116698.1:p.Ala683Pro
NM_001123226.2:c.2047G>C (MTO1) NP_001116698.1:p.Ala683Pro
NM_012123.3:c.1927G>C (MTO1) NP_036255.2:p.Ala643Pro
NM_133645.2:c.2002G>C (MTO1) NP_598400.1:p.Ala668Pro
NM_133645.3:c.2002G>C (MTO1) NP_598400.1:p.Ala668Pro
ENST00000370300.8:c.2002G>C (MTO1) ENSP00000359323.4:p.Ala668Pro
ENST00000370305.5:c.1780G>C (MTO1) ENSP00000359328.1:p.Ala594Pro
ENST00000370308.8:n.2108G>C (MTO1)
ENST00000415228.5:c.*1058G>C (MTO1) ENSP00000416397.1:n.*1058G>C
ENST00000415954.6:c.2047G>C (MTO1) ENSP00000402038.2:p.Ala683Pro
ENST00000442897.7:c.*897G>C (MTO1) ENSP00000396529.2:n.*897G>C
ENST00000445187.6:c.*908G>C (MTO1) ENSP00000407580.2:n.*908G>C
ENST00000462039.5:n.1949G>C (MTO1)
ENST00000487960.2:n.1848G>C (MTO1)
ENST00000498286.5:c.1927G>C (MTO1) ENSP00000419561.1:p.Ala643Pro
ENST00000521156.5:c.431G>C (MTO1) ENSP00000428863.1:p.Cys144Ser
ENST00000521156.6:c.1544G>C (MTO1) ENSP00000428863.2:p.Cys515Ser
ENST00000522205.6:c.*1309G>C (MTO1) ENSP00000428903.2:n.*1309G>C
ENST00000523763.1:c.578G>C (MTO1)
ENST00000523763.2:c.1930G>C (MTO1) ENSP00000429595.2:n.1930G>C
ENST00000524046.2:c.*1359G>C (MTO1) ENSP00000430660.2:n.*1359G>C
ENST00000676547.1:c.1030-7779C>G (EEF1A1) ENSP00000503518.1:n.1030-7779C>G
ENST00000679352.1:c.*1299G>C (MTO1) ENSP00000505776.1:n.*1299G>C
ENST00000679364.1:c.*1069G>C (MTO1) ENSP00000505626.1:n.*1069G>C
ENST00000679411.1:c.*1722G>C (MTO1) ENSP00000506532.1:n.*1722G>C
ENST00000679418.1:c.*1481G>C (MTO1) ENSP00000505278.1:n.*1481G>C
ENST00000679524.1:c.*1181G>C (MTO1) ENSP00000505038.1:n.*1181G>C
ENST00000679591.1:c.1920G>C (MTO1) ENSP00000505656.1:n.1920G>C
ENST00000679592.1:c.*1741G>C (MTO1) ENSP00000505736.1:n.*1741G>C
ENST00000679604.1:c.*1069G>C (MTO1) ENSP00000506268.1:n.*1069G>C
ENST00000679612.1:n.2131G>C (MTO1)
ENST00000679627.1:c.*771G>C (MTO1) ENSP00000505373.1:n.*771G>C
ENST00000679675.1:c.*405G>C (MTO1) ENSP00000505458.1:n.*405G>C
ENST00000679730.1:c.*963G>C (MTO1) ENSP00000506698.1:n.*963G>C
ENST00000679763.1:n.539G>C (MTO1)
ENST00000679808.1:c.*908G>C (MTO1) ENSP00000506127.1:n.*908G>C
ENST00000679870.1:c.*1320G>C (MTO1) ENSP00000505401.1:n.*1320G>C
ENST00000679900.1:c.*971G>C (MTO1) ENSP00000505653.1:n.*971G>C
ENST00000679905.1:c.*405G>C (MTO1) ENSP00000505787.1:n.*405G>C
ENST00000679947.1:c.*771G>C (MTO1) ENSP00000506630.1:n.*771G>C
ENST00000679993.1:n.2006G>C (MTO1)
ENST00000680034.1:c.*1174G>C (MTO1) ENSP00000505785.1:n.*1174G>C
ENST00000680131.1:c.*660G>C (MTO1) ENSP00000505906.1:n.*660G>C
ENST00000680195.1:n.2124G>C (MTO1)
ENST00000680238.1:c.*1470G>C (MTO1) ENSP00000506260.1:n.*1470G>C
ENST00000680266.1:n.2456G>C (MTO1)
ENST00000680289.1:c.*1470G>C (MTO1) ENSP00000505097.1:n.*1470G>C
ENST00000680350.1:n.1915G>C (MTO1)
ENST00000680405.1:n.2259G>C (MTO1)
ENST00000680428.1:c.*884G>C (MTO1) ENSP00000506210.1:n.*884G>C
ENST00000680544.1:c.*1265G>C (MTO1) ENSP00000506702.1:n.*1265G>C
ENST00000680563.1:c.1586G>C (MTO1)
ENST00000680570.1:n.2303G>C (MTO1)
ENST00000680601.1:c.*1290G>C (MTO1) ENSP00000506582.1:n.*1290G>C
ENST00000680609.1:c.*1058G>C (MTO1) ENSP00000505053.1:n.*1058G>C
ENST00000680686.1:c.1705G>C (MTO1) ENSP00000506609.1:p.Ala569Pro
ENST00000680758.1:c.*1692G>C (MTO1) ENSP00000505192.1:n.*1692G>C
ENST00000680775.1:c.*1305G>C (MTO1) ENSP00000505199.1:n.*1305G>C
ENST00000680794.1:c.*1506G>C (MTO1) ENSP00000506362.1:n.*1506G>C
ENST00000680841.1:c.1745G>C (MTO1) ENSP00000506524.1:n.1745G>C
ENST00000680875.1:c.*539G>C (MTO1) ENSP00000506042.1:n.*539G>C
ENST00000680902.1:c.*726G>C (MTO1) ENSP00000505813.1:n.*726G>C
ENST00000681094.1:c.*744G>C (MTO1) ENSP00000505394.1:n.*744G>C
ENST00000681141.1:c.*1315G>C (MTO1) ENSP00000506035.1:n.*1315G>C
ENST00000681165.1:c.*1481G>C (MTO1) ENSP00000506088.1:n.*1481G>C
ENST00000681204.1:c.1766G>C (MTO1) ENSP00000505819.1:p.Cys589Ser
ENST00000681212.1:n.2203G>C (MTO1)
ENST00000681254.1:c.*1586G>C (MTO1) ENSP00000506575.1:n.*1586G>C
ENST00000681267.1:c.*539G>C (MTO1) ENSP00000506570.1:n.*539G>C
ENST00000681284.1:n.2292G>C (MTO1)
ENST00000681294.1:c.*1048G>C (MTO1) ENSP00000505615.1:n.*1048G>C
ENST00000681337.1:c.*744G>C (MTO1) ENSP00000506108.1:n.*744G>C
ENST00000681438.1:c.*681G>C (MTO1) ENSP00000505135.1:n.*681G>C
ENST00000681500.1:c.1645G>C (MTO1) ENSP00000506439.1:p.Ala549Pro
ENST00000681509.1:c.*660G>C (MTO1) ENSP00000506571.1:n.*660G>C
ENST00000681579.1:c.*405G>C (MTO1) ENSP00000505732.1:n.*405G>C
ENST00000681610.1:c.*266G>C (MTO1) ENSP00000505229.1:n.*266G>C
ENST00000681620.1:c.*566G>C (MTO1) ENSP00000505386.1:n.*566G>C
ENST00000681624.1:c.*1694G>C (MTO1) ENSP00000505820.1:n.*1694G>C
ENST00000681691.1:c.*101G>C (MTO1) ENSP00000505613.1:n.*101G>C
ENST00000681705.1:c.*499G>C (MTO1) ENSP00000506381.1:n.*499G>C
ENST00000681890.1:c.*824G>C (MTO1) ENSP00000505751.1:n.*824G>C
ENST00000681932.1:c.*1240G>C (MTO1) ENSP00000505826.1:n.*1240G>C
XM_006715444.2:c.1705G>C (MTO1) XP_006715507.1:p.Ala569Pro
XM_006715445.2:c.1705G>C (MTO1) XP_006715508.1:p.Ala569Pro
XM_006715446.2:c.1766G>C (MTO1) XP_006715509.1:p.Cys589Ser
XM_011535723.1:c.1516G>C (MTO1) XP_011534025.1:p.Ala506Pro
XM_011535724.1:c.1516G>C (MTO1) XP_011534026.1:p.Ala506Pro
XM_011535725.1:c.1516G>C (MTO1) XP_011534027.1:p.Ala506Pro