Canonical Allele Identifier: CA364701639
Community Standard Title: NM_012123.4(MTO1):c.1926T>A (p.Ala642=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73500582T>A , CM000668.2:g.73500582T>A GRCh38
NC_000006.11:g.74210305T>A , CM000668.1:g.74210305T>A GRCh37
NC_000006.10:g.74267026T>A NCBI36
NG_032856.1:g.43852T>A
NG_032856.2:g.43852T>A

Transcript Alleles

HGVS Amino-acid Change
NM_012123.4:c.1926T>A (MTO1) MANE Select NP_036255.2:p.Ala642=
ENST00000498286.6:c.1926T>A (MTO1) MANE Select ENSP00000419561.2:p.Ala642=
NM_001123226.1:c.2046T>A (MTO1) NP_001116698.1:p.Ala682=
NM_001123226.2:c.2046T>A (MTO1) NP_001116698.1:p.Ala682=
NM_012123.3:c.1926T>A (MTO1) NP_036255.2:p.Ala642=
NM_133645.2:c.2001T>A (MTO1) NP_598400.1:p.Ala667=
NM_133645.3:c.2001T>A (MTO1) NP_598400.1:p.Ala667=
ENST00000370300.8:c.2001T>A (MTO1) ENSP00000359323.4:p.Ala667=
ENST00000370305.5:c.1779T>A (MTO1) ENSP00000359328.1:p.Ala593=
ENST00000370308.8:n.2107T>A (MTO1)
ENST00000415228.5:c.*1057T>A (MTO1) ENSP00000416397.1:n.*1057T>A
ENST00000415954.6:c.2046T>A (MTO1) ENSP00000402038.2:p.Ala682=
ENST00000442897.7:c.*896T>A (MTO1) ENSP00000396529.2:n.*896T>A
ENST00000445187.6:c.*907T>A (MTO1) ENSP00000407580.2:n.*907T>A
ENST00000462039.5:n.1948T>A (MTO1)
ENST00000487960.2:n.1847T>A (MTO1)
ENST00000498286.5:c.1926T>A (MTO1) ENSP00000419561.1:p.Ala642=
ENST00000521156.5:c.430T>A (MTO1) ENSP00000428863.1:p.Cys144Ser
ENST00000521156.6:c.1543T>A (MTO1) ENSP00000428863.2:p.Cys515Ser
ENST00000522205.6:c.*1308T>A (MTO1) ENSP00000428903.2:n.*1308T>A
ENST00000523763.1:c.577T>A (MTO1)
ENST00000523763.2:c.1929T>A (MTO1) ENSP00000429595.2:n.1929T>A
ENST00000524046.2:c.*1358T>A (MTO1) ENSP00000430660.2:n.*1358T>A
ENST00000676547.1:c.1030-7778A>T (EEF1A1) ENSP00000503518.1:n.1030-7778A>T
ENST00000679352.1:c.*1298T>A (MTO1) ENSP00000505776.1:n.*1298T>A
ENST00000679364.1:c.*1068T>A (MTO1) ENSP00000505626.1:n.*1068T>A
ENST00000679411.1:c.*1721T>A (MTO1) ENSP00000506532.1:n.*1721T>A
ENST00000679418.1:c.*1480T>A (MTO1) ENSP00000505278.1:n.*1480T>A
ENST00000679524.1:c.*1180T>A (MTO1) ENSP00000505038.1:n.*1180T>A
ENST00000679591.1:c.1919T>A (MTO1) ENSP00000505656.1:n.1919T>A
ENST00000679592.1:c.*1740T>A (MTO1) ENSP00000505736.1:n.*1740T>A
ENST00000679604.1:c.*1068T>A (MTO1) ENSP00000506268.1:n.*1068T>A
ENST00000679612.1:n.2130T>A (MTO1)
ENST00000679627.1:c.*770T>A (MTO1) ENSP00000505373.1:n.*770T>A
ENST00000679675.1:c.*404T>A (MTO1) ENSP00000505458.1:n.*404T>A
ENST00000679730.1:c.*962T>A (MTO1) ENSP00000506698.1:n.*962T>A
ENST00000679763.1:n.538T>A (MTO1)
ENST00000679808.1:c.*907T>A (MTO1) ENSP00000506127.1:n.*907T>A
ENST00000679870.1:c.*1319T>A (MTO1) ENSP00000505401.1:n.*1319T>A
ENST00000679900.1:c.*970T>A (MTO1) ENSP00000505653.1:n.*970T>A
ENST00000679905.1:c.*404T>A (MTO1) ENSP00000505787.1:n.*404T>A
ENST00000679947.1:c.*770T>A (MTO1) ENSP00000506630.1:n.*770T>A
ENST00000679993.1:n.2005T>A (MTO1)
ENST00000680034.1:c.*1173T>A (MTO1) ENSP00000505785.1:n.*1173T>A
ENST00000680131.1:c.*659T>A (MTO1) ENSP00000505906.1:n.*659T>A
ENST00000680195.1:n.2123T>A (MTO1)
ENST00000680238.1:c.*1469T>A (MTO1) ENSP00000506260.1:n.*1469T>A
ENST00000680266.1:n.2455T>A (MTO1)
ENST00000680289.1:c.*1469T>A (MTO1) ENSP00000505097.1:n.*1469T>A
ENST00000680350.1:n.1914T>A (MTO1)
ENST00000680405.1:n.2258T>A (MTO1)
ENST00000680428.1:c.*883T>A (MTO1) ENSP00000506210.1:n.*883T>A
ENST00000680544.1:c.*1264T>A (MTO1) ENSP00000506702.1:n.*1264T>A
ENST00000680563.1:c.1585T>A (MTO1)
ENST00000680570.1:n.2302T>A (MTO1)
ENST00000680601.1:c.*1289T>A (MTO1) ENSP00000506582.1:n.*1289T>A
ENST00000680609.1:c.*1057T>A (MTO1) ENSP00000505053.1:n.*1057T>A
ENST00000680686.1:c.1704T>A (MTO1) ENSP00000506609.1:p.Ala568=
ENST00000680758.1:c.*1691T>A (MTO1) ENSP00000505192.1:n.*1691T>A
ENST00000680775.1:c.*1304T>A (MTO1) ENSP00000505199.1:n.*1304T>A
ENST00000680794.1:c.*1505T>A (MTO1) ENSP00000506362.1:n.*1505T>A
ENST00000680841.1:c.1744T>A (MTO1) ENSP00000506524.1:n.1744T>A
ENST00000680875.1:c.*538T>A (MTO1) ENSP00000506042.1:n.*538T>A
ENST00000680902.1:c.*725T>A (MTO1) ENSP00000505813.1:n.*725T>A
ENST00000681094.1:c.*743T>A (MTO1) ENSP00000505394.1:n.*743T>A
ENST00000681141.1:c.*1314T>A (MTO1) ENSP00000506035.1:n.*1314T>A
ENST00000681165.1:c.*1480T>A (MTO1) ENSP00000506088.1:n.*1480T>A
ENST00000681204.1:c.1765T>A (MTO1) ENSP00000505819.1:p.Cys589Ser
ENST00000681212.1:n.2202T>A (MTO1)
ENST00000681254.1:c.*1585T>A (MTO1) ENSP00000506575.1:n.*1585T>A
ENST00000681267.1:c.*538T>A (MTO1) ENSP00000506570.1:n.*538T>A
ENST00000681284.1:n.2291T>A (MTO1)
ENST00000681294.1:c.*1047T>A (MTO1) ENSP00000505615.1:n.*1047T>A
ENST00000681337.1:c.*743T>A (MTO1) ENSP00000506108.1:n.*743T>A
ENST00000681438.1:c.*680T>A (MTO1) ENSP00000505135.1:n.*680T>A
ENST00000681500.1:c.1644T>A (MTO1) ENSP00000506439.1:p.Ala548=
ENST00000681509.1:c.*659T>A (MTO1) ENSP00000506571.1:n.*659T>A
ENST00000681579.1:c.*404T>A (MTO1) ENSP00000505732.1:n.*404T>A
ENST00000681610.1:c.*265T>A (MTO1) ENSP00000505229.1:n.*265T>A
ENST00000681620.1:c.*565T>A (MTO1) ENSP00000505386.1:n.*565T>A
ENST00000681624.1:c.*1693T>A (MTO1) ENSP00000505820.1:n.*1693T>A
ENST00000681691.1:c.*100T>A (MTO1) ENSP00000505613.1:n.*100T>A
ENST00000681705.1:c.*498T>A (MTO1) ENSP00000506381.1:n.*498T>A
ENST00000681890.1:c.*823T>A (MTO1) ENSP00000505751.1:n.*823T>A
ENST00000681932.1:c.*1239T>A (MTO1) ENSP00000505826.1:n.*1239T>A
XM_006715444.2:c.1704T>A (MTO1) XP_006715507.1:p.Ala568=
XM_006715445.2:c.1704T>A (MTO1) XP_006715508.1:p.Ala568=
XM_006715446.2:c.1765T>A (MTO1) XP_006715509.1:p.Cys589Ser
XM_011535723.1:c.1515T>A (MTO1) XP_011534025.1:p.Ala505=
XM_011535724.1:c.1515T>A (MTO1) XP_011534026.1:p.Ala505=
XM_011535725.1:c.1515T>A (MTO1) XP_011534027.1:p.Ala505=