Canonical Allele Identifier: CA364716920
Gene: MTO1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73482065G>T , CM000668.2:g.73482065G>T GRCh38
NC_000006.11:g.74191788G>T , CM000668.1:g.74191788G>T GRCh37
NC_000006.10:g.74248509G>T NCBI36
NG_032856.1:g.25335G>T
NG_032856.2:g.25335G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442897.7:c.*417G>T ENSP00000396529.2:n.*417G>T
ENST00000445187.6:c.*428G>T ENSP00000407580.2:n.*428G>T
ENST00000487960.2:n.1368G>T
ENST00000498286.6:c.1286G>T MANE Select ENSP00000419561.2:p.Ser429Ile
ENST00000521156.6:c.1064G>T ENSP00000428863.2:p.Ser355Ile
ENST00000522205.6:c.*829G>T ENSP00000428903.2:n.*829G>T
ENST00000523763.2:c.1286G>T ENSP00000429595.2:p.Ser429Ile
ENST00000524046.2:c.*879G>T ENSP00000430660.2:n.*879G>T
ENST00000679352.1:c.*658G>T ENSP00000505776.1:n.*658G>T
ENST00000679364.1:c.*428G>T ENSP00000505626.1:n.*428G>T
ENST00000679411.1:c.*1081G>T ENSP00000506532.1:n.*1081G>T
ENST00000679418.1:c.*840G>T ENSP00000505278.1:n.*840G>T
ENST00000679524.1:c.*540G>T ENSP00000505038.1:n.*540G>T
ENST00000679591.1:c.1279G>T ENSP00000505656.1:n.1279G>T
ENST00000679592.1:c.*1100G>T ENSP00000505736.1:n.*1100G>T
ENST00000679604.1:c.*608-384G>T ENSP00000506268.1:n.*608-384G>T
ENST00000679612.1:n.1651G>T
ENST00000679627.1:c.*130G>T ENSP00000505373.1:n.*130G>T
ENST00000679675.1:c.1336-384G>T ENSP00000505458.1:n.1336-384G>T
ENST00000679730.1:c.*502-384G>T ENSP00000506698.1:n.*502-384G>T
ENST00000679808.1:c.*103G>T ENSP00000506127.1:n.*103G>T
ENST00000679870.1:c.*840G>T ENSP00000505401.1:n.*840G>T
ENST00000679900.1:c.*330G>T ENSP00000505653.1:n.*330G>T
ENST00000679905.1:c.1261-384G>T ENSP00000505787.1:n.1261-384G>T
ENST00000679947.1:c.*130G>T ENSP00000506630.1:n.*130G>T
ENST00000679993.1:n.1365G>T
ENST00000680034.1:c.*533G>T ENSP00000505785.1:n.*533G>T
ENST00000680131.1:c.*19G>T ENSP00000505906.1:n.*19G>T
ENST00000680195.1:n.1483G>T
ENST00000680238.1:c.*829G>T ENSP00000506260.1:n.*829G>T
ENST00000680266.1:n.1651G>T
ENST00000680289.1:c.*829G>T ENSP00000505097.1:n.*829G>T
ENST00000680350.1:n.1625+1260G>T
ENST00000680405.1:n.1618G>T
ENST00000680428.1:c.*243G>T ENSP00000506210.1:n.*243G>T
ENST00000680544.1:c.*804-384G>T ENSP00000506702.1:n.*804-384G>T
ENST00000680563.1:c.945G>T
ENST00000680570.1:n.1662G>T
ENST00000680601.1:c.*810G>T ENSP00000506582.1:n.*810G>T
ENST00000680609.1:c.*417G>T ENSP00000505053.1:n.*417G>T
ENST00000680686.1:c.1064G>T ENSP00000506609.1:p.Ser355Ile
ENST00000680758.1:c.*1051G>T ENSP00000505192.1:n.*1051G>T
ENST00000680775.1:c.*664G>T ENSP00000505199.1:n.*664G>T
ENST00000680794.1:c.*1045-384G>T ENSP00000506362.1:n.*1045-384G>T
ENST00000680841.1:c.1265G>T ENSP00000506524.1:n.1265G>T
ENST00000680875.1:c.*78-384G>T ENSP00000506042.1:n.*78-384G>T
ENST00000680902.1:c.*257G>T ENSP00000505813.1:n.*257G>T
ENST00000681094.1:c.*103G>T ENSP00000505394.1:n.*103G>T
ENST00000681141.1:c.*854-384G>T ENSP00000506035.1:n.*854-384G>T
ENST00000681165.1:c.*840G>T ENSP00000506088.1:n.*840G>T
ENST00000681204.1:c.1286G>T ENSP00000505819.1:p.Ser429Ile
ENST00000681212.1:n.1742-384G>T
ENST00000681254.1:c.*945G>T ENSP00000506575.1:n.*945G>T
ENST00000681267.1:c.*78-384G>T ENSP00000506570.1:n.*78-384G>T
ENST00000681284.1:n.1651G>T
ENST00000681294.1:c.*243G>T ENSP00000505615.1:n.*243G>T
ENST00000681337.1:c.*103G>T ENSP00000506108.1:n.*103G>T
ENST00000681438.1:c.*391+1260G>T ENSP00000505135.1:n.*391+1260G>T
ENST00000681500.1:c.1004G>T ENSP00000506439.1:p.Ser335Ile
ENST00000681509.1:c.*19G>T ENSP00000506571.1:n.*19G>T
ENST00000681579.1:c.1039-384G>T ENSP00000505732.1:n.1039-384G>T
ENST00000681610.1:c.1260+1260G>T ENSP00000505229.1:n.1260+1260G>T
ENST00000681620.1:c.*105-384G>T ENSP00000505386.1:n.*105-384G>T
ENST00000681624.1:c.*1053G>T ENSP00000505820.1:n.*1053G>T
ENST00000681691.1:c.1286G>T ENSP00000505613.1:p.Ser429Ile
ENST00000681705.1:c.*19G>T ENSP00000506381.1:n.*19G>T
ENST00000681890.1:c.*19G>T ENSP00000505751.1:n.*19G>T
ENST00000681932.1:c.*599G>T ENSP00000505826.1:n.*599G>T
ENST00000370300.8:c.1361G>T ENSP00000359323.4:p.Ser454Ile
ENST00000370305.5:c.1139G>T ENSP00000359328.1:p.Ser380Ile
ENST00000370308.8:n.1467G>T
ENST00000415228.5:c.*417G>T ENSP00000416397.1:n.*417G>T
ENST00000415954.6:c.1406G>T ENSP00000402038.2:p.Ser469Ile
ENST00000445187.5:c.400G>T ENSP00000407580.1:n.400G>T
ENST00000462039.5:n.1308G>T
ENST00000498286.5:c.1286G>T ENSP00000419561.1:p.Ser429Ile
ENST00000524046.1:c.204-384G>T
NM_001123226.1:c.1406G>T NP_001116698.1:p.Ser469Ile
NM_012123.3:c.1286G>T NP_036255.2:p.Ser429Ile
NM_133645.2:c.1361G>T NP_598400.1:p.Ser454Ile
XM_006715444.2:c.1064G>T XP_006715507.1:p.Ser355Ile
XM_006715445.2:c.1064G>T XP_006715508.1:p.Ser355Ile
XM_006715446.2:c.1286G>T XP_006715509.1:p.Ser429Ile
XM_006715447.2:c.*19G>T XP_006715510.1:n.*19G>T
XM_011535723.1:c.875G>T XP_011534025.1:p.Ser292Ile
XM_011535724.1:c.875G>T XP_011534026.1:p.Ser292Ile
XM_011535725.1:c.875G>T XP_011534027.1:p.Ser292Ile
NM_001123226.2:c.1406G>T NP_001116698.1:p.Ser469Ile
NM_012123.4:c.1286G>T MANE Select NP_036255.2:p.Ser429Ile
NM_133645.3:c.1361G>T NP_598400.1:p.Ser454Ile