Canonical Allele Identifier: CA364717556

Gene: MTO1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73482557G>C , CM000668.2:g.73482557G>C	GRCh38
NC_000006.11:g.74192280G>C , CM000668.1:g.74192280G>C	GRCh37
NC_000006.10:g.74249001G>C	NCBI36
NG_032856.1:g.25827G>C
NG_032856.2:g.25827G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012123.4:c.1574G>C MANE Select	NP_036255.2:p.Ser525Thr
ENST00000498286.6:c.1574G>C MANE Select	ENSP00000419561.2:p.Ser525Thr
NM_001123226.1:c.1694G>C	NP_001116698.1:p.Ser565Thr
NM_001123226.2:c.1694G>C	NP_001116698.1:p.Ser565Thr
NM_012123.3:c.1574G>C	NP_036255.2:p.Ser525Thr
NM_133645.2:c.1649G>C	NP_598400.1:p.Ser550Thr
NM_133645.3:c.1649G>C	NP_598400.1:p.Ser550Thr
ENST00000370300.8:c.1649G>C	ENSP00000359323.4:p.Ser550Thr
ENST00000370305.5:c.1427G>C	ENSP00000359328.1:p.Ser476Thr
ENST00000370308.8:n.1755G>C
ENST00000415228.5:c.*705G>C	ENSP00000416397.1:n.*705G>C
ENST00000415954.6:c.1694G>C	ENSP00000402038.2:p.Ser565Thr
ENST00000442897.7:c.*705G>C	ENSP00000396529.2:n.*705G>C
ENST00000445187.6:c.*716G>C	ENSP00000407580.2:n.*716G>C
ENST00000462039.5:n.1596G>C
ENST00000487960.2:n.1656G>C
ENST00000498286.5:c.1574G>C	ENSP00000419561.1:p.Ser525Thr
ENST00000521156.5:c.239G>C	ENSP00000428863.1:p.Ser80Thr
ENST00000521156.6:c.1352G>C	ENSP00000428863.2:p.Ser451Thr
ENST00000522205.6:c.*1117G>C	ENSP00000428903.2:n.*1117G>C
ENST00000523763.1:c.222G>C
ENST00000523763.2:c.1574G>C	ENSP00000429595.2:p.Ser525Thr
ENST00000524046.1:c.312G>C
ENST00000524046.2:c.*1167G>C	ENSP00000430660.2:n.*1167G>C
ENST00000679352.1:c.*946G>C	ENSP00000505776.1:n.*946G>C
ENST00000679364.1:c.*716G>C	ENSP00000505626.1:n.*716G>C
ENST00000679411.1:c.*1369G>C	ENSP00000506532.1:n.*1369G>C
ENST00000679418.1:c.*1128G>C	ENSP00000505278.1:n.*1128G>C
ENST00000679524.1:c.*828G>C	ENSP00000505038.1:n.*828G>C
ENST00000679591.1:c.1567G>C	ENSP00000505656.1:n.1567G>C
ENST00000679592.1:c.*1388G>C	ENSP00000505736.1:n.*1388G>C
ENST00000679604.1:c.*716G>C	ENSP00000506268.1:n.*716G>C
ENST00000679612.1:n.1939G>C
ENST00000679627.1:c.*418G>C	ENSP00000505373.1:n.*418G>C
ENST00000679675.1:c.*52G>C	ENSP00000505458.1:n.*52G>C
ENST00000679730.1:c.*610G>C	ENSP00000506698.1:n.*610G>C
ENST00000679808.1:c.*391G>C	ENSP00000506127.1:n.*391G>C
ENST00000679870.1:c.*1128G>C	ENSP00000505401.1:n.*1128G>C
ENST00000679900.1:c.*618G>C	ENSP00000505653.1:n.*618G>C
ENST00000679905.1:c.*52G>C	ENSP00000505787.1:n.*52G>C
ENST00000679947.1:c.*418G>C	ENSP00000506630.1:n.*418G>C
ENST00000679993.1:n.1653G>C
ENST00000680034.1:c.*821G>C	ENSP00000505785.1:n.*821G>C
ENST00000680131.1:c.*307G>C	ENSP00000505906.1:n.*307G>C
ENST00000680195.1:n.1771G>C
ENST00000680238.1:c.*1117G>C	ENSP00000506260.1:n.*1117G>C
ENST00000680266.1:n.1939G>C
ENST00000680289.1:c.*1117G>C	ENSP00000505097.1:n.*1117G>C
ENST00000680350.1:n.1625+1752G>C
ENST00000680405.1:n.1906G>C
ENST00000680428.1:c.*531G>C	ENSP00000506210.1:n.*531G>C
ENST00000680544.1:c.*912G>C	ENSP00000506702.1:n.*912G>C
ENST00000680563.1:c.1233G>C
ENST00000680570.1:n.1950G>C
ENST00000680601.1:c.*1098G>C	ENSP00000506582.1:n.*1098G>C
ENST00000680609.1:c.*705G>C	ENSP00000505053.1:n.*705G>C
ENST00000680686.1:c.1352G>C	ENSP00000506609.1:p.Ser451Thr
ENST00000680758.1:c.*1339G>C	ENSP00000505192.1:n.*1339G>C
ENST00000680775.1:c.*952G>C	ENSP00000505199.1:n.*952G>C
ENST00000680794.1:c.*1153G>C	ENSP00000506362.1:n.*1153G>C
ENST00000680841.1:c.1553G>C	ENSP00000506524.1:n.1553G>C
ENST00000680875.1:c.*186G>C	ENSP00000506042.1:n.*186G>C
ENST00000680902.1:c.*436+313G>C	ENSP00000505813.1:n.*436+313G>C
ENST00000681094.1:c.*391G>C	ENSP00000505394.1:n.*391G>C
ENST00000681141.1:c.*962G>C	ENSP00000506035.1:n.*962G>C
ENST00000681165.1:c.*1128G>C	ENSP00000506088.1:n.*1128G>C
ENST00000681204.1:c.1574G>C	ENSP00000505819.1:p.Ser525Thr
ENST00000681212.1:n.1850G>C
ENST00000681254.1:c.*1233G>C	ENSP00000506575.1:n.*1233G>C
ENST00000681267.1:c.*186G>C	ENSP00000506570.1:n.*186G>C
ENST00000681284.1:n.1939G>C
ENST00000681294.1:c.*531G>C	ENSP00000505615.1:n.*531G>C
ENST00000681337.1:c.*391G>C	ENSP00000506108.1:n.*391G>C
ENST00000681438.1:c.*391+1752G>C	ENSP00000505135.1:n.*391+1752G>C
ENST00000681500.1:c.1292G>C	ENSP00000506439.1:p.Ser431Thr
ENST00000681509.1:c.*307G>C	ENSP00000506571.1:n.*307G>C
ENST00000681579.1:c.*52G>C	ENSP00000505732.1:n.*52G>C
ENST00000681610.1:c.1260+1752G>C	ENSP00000505229.1:n.1260+1752G>C
ENST00000681620.1:c.*213G>C	ENSP00000505386.1:n.*213G>C
ENST00000681624.1:c.*1341G>C	ENSP00000505820.1:n.*1341G>C
ENST00000681691.1:c.1574G>C	ENSP00000505613.1:p.Ser525Thr
ENST00000681705.1:c.*307G>C	ENSP00000506381.1:n.*307G>C
ENST00000681890.1:c.*307G>C	ENSP00000505751.1:n.*307G>C
ENST00000681932.1:c.*887G>C	ENSP00000505826.1:n.*887G>C
XM_006715444.2:c.1352G>C	XP_006715507.1:p.Ser451Thr
XM_006715445.2:c.1352G>C	XP_006715508.1:p.Ser451Thr
XM_006715446.2:c.1574G>C	XP_006715509.1:p.Ser525Thr
XM_011535723.1:c.1163G>C	XP_011534025.1:p.Ser388Thr
XM_011535724.1:c.1163G>C	XP_011534026.1:p.Ser388Thr
XM_011535725.1:c.1163G>C	XP_011534027.1:p.Ser388Thr