Canonical Allele Identifier: CA16616764

Gene: MTO1

Linked Data

• ClinVar Variation Id: 70512
• ClinVar RCV Id: RCV000481072 ; RCV001328641
• dbSNP Id: rs141970072
• gnomAD v2: 6-74191893-G-T
• gnomAD v4: 6-73482170-G-T
• COSMIC: COSM106822
• MyVariant Identifiers: chr6:g.74191893G>T (hg19) ; chr6:g.73482170G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73482170G>T , CM000668.2:g.73482170G>T	GRCh38
NC_000006.11:g.74191893G>T , CM000668.1:g.74191893G>T	GRCh37
NC_000006.10:g.74248614G>T	NCBI36
NG_032856.1:g.25440G>T
NG_032856.2:g.25440G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442897.7:c.*522G>T	ENSP00000396529.2:n.*522G>T
ENST00000445187.6:c.*533G>T	ENSP00000407580.2:n.*533G>T
ENST00000487960.2:n.1473G>T
ENST00000498286.6:c.1391G>T MANE Select	ENSP00000419561.2:p.Arg464Leu
ENST00000521156.6:c.1169G>T	ENSP00000428863.2:p.Arg390Leu
ENST00000522205.6:c.*934G>T	ENSP00000428903.2:n.*934G>T
ENST00000523763.2:c.1391G>T	ENSP00000429595.2:p.Arg464Leu
ENST00000524046.2:c.*984G>T	ENSP00000430660.2:n.*984G>T
ENST00000679352.1:c.*763G>T	ENSP00000505776.1:n.*763G>T
ENST00000679364.1:c.*533G>T	ENSP00000505626.1:n.*533G>T
ENST00000679411.1:c.*1186G>T	ENSP00000506532.1:n.*1186G>T
ENST00000679418.1:c.*945G>T	ENSP00000505278.1:n.*945G>T
ENST00000679524.1:c.*645G>T	ENSP00000505038.1:n.*645G>T
ENST00000679591.1:c.1384G>T	ENSP00000505656.1:n.1384G>T
ENST00000679592.1:c.*1205G>T	ENSP00000505736.1:n.*1205G>T
ENST00000679604.1:c.*608-279G>T	ENSP00000506268.1:n.*608-279G>T
ENST00000679612.1:n.1756G>T
ENST00000679627.1:c.*235G>T	ENSP00000505373.1:n.*235G>T
ENST00000679675.1:c.1336-279G>T	ENSP00000505458.1:n.1336-279G>T
ENST00000679730.1:c.*502-279G>T	ENSP00000506698.1:n.*502-279G>T
ENST00000679808.1:c.*208G>T	ENSP00000506127.1:n.*208G>T
ENST00000679870.1:c.*945G>T	ENSP00000505401.1:n.*945G>T
ENST00000679900.1:c.*435G>T	ENSP00000505653.1:n.*435G>T
ENST00000679905.1:c.1261-279G>T	ENSP00000505787.1:n.1261-279G>T
ENST00000679947.1:c.*235G>T	ENSP00000506630.1:n.*235G>T
ENST00000679993.1:n.1470G>T
ENST00000680034.1:c.*638G>T	ENSP00000505785.1:n.*638G>T
ENST00000680131.1:c.*124G>T	ENSP00000505906.1:n.*124G>T
ENST00000680195.1:n.1588G>T
ENST00000680238.1:c.*934G>T	ENSP00000506260.1:n.*934G>T
ENST00000680266.1:n.1756G>T
ENST00000680289.1:c.*934G>T	ENSP00000505097.1:n.*934G>T
ENST00000680350.1:n.1625+1365G>T
ENST00000680405.1:n.1723G>T
ENST00000680428.1:c.*348G>T	ENSP00000506210.1:n.*348G>T
ENST00000680544.1:c.*804-279G>T	ENSP00000506702.1:n.*804-279G>T
ENST00000680563.1:c.1050G>T
ENST00000680570.1:n.1767G>T
ENST00000680601.1:c.*915G>T	ENSP00000506582.1:n.*915G>T
ENST00000680609.1:c.*522G>T	ENSP00000505053.1:n.*522G>T
ENST00000680686.1:c.1169G>T	ENSP00000506609.1:p.Arg390Leu
ENST00000680758.1:c.*1156G>T	ENSP00000505192.1:n.*1156G>T
ENST00000680775.1:c.*769G>T	ENSP00000505199.1:n.*769G>T
ENST00000680794.1:c.*1045-279G>T	ENSP00000506362.1:n.*1045-279G>T
ENST00000680841.1:c.1370G>T	ENSP00000506524.1:n.1370G>T
ENST00000680875.1:c.*78-279G>T	ENSP00000506042.1:n.*78-279G>T
ENST00000680902.1:c.*362G>T	ENSP00000505813.1:n.*362G>T
ENST00000681094.1:c.*208G>T	ENSP00000505394.1:n.*208G>T
ENST00000681141.1:c.*854-279G>T	ENSP00000506035.1:n.*854-279G>T
ENST00000681165.1:c.*945G>T	ENSP00000506088.1:n.*945G>T
ENST00000681204.1:c.1391G>T	ENSP00000505819.1:p.Arg464Leu
ENST00000681212.1:n.1742-279G>T
ENST00000681254.1:c.*1050G>T	ENSP00000506575.1:n.*1050G>T
ENST00000681267.1:c.*78-279G>T	ENSP00000506570.1:n.*78-279G>T
ENST00000681284.1:n.1756G>T
ENST00000681294.1:c.*348G>T	ENSP00000505615.1:n.*348G>T
ENST00000681337.1:c.*208G>T	ENSP00000506108.1:n.*208G>T
ENST00000681438.1:c.*391+1365G>T	ENSP00000505135.1:n.*391+1365G>T
ENST00000681500.1:c.1109G>T	ENSP00000506439.1:p.Arg370Leu
ENST00000681509.1:c.*124G>T	ENSP00000506571.1:n.*124G>T
ENST00000681579.1:c.1039-279G>T	ENSP00000505732.1:n.1039-279G>T
ENST00000681610.1:c.1260+1365G>T	ENSP00000505229.1:n.1260+1365G>T
ENST00000681620.1:c.*105-279G>T	ENSP00000505386.1:n.*105-279G>T
ENST00000681624.1:c.*1158G>T	ENSP00000505820.1:n.*1158G>T
ENST00000681691.1:c.1391G>T	ENSP00000505613.1:p.Arg464Leu
ENST00000681705.1:c.*124G>T	ENSP00000506381.1:n.*124G>T
ENST00000681890.1:c.*124G>T	ENSP00000505751.1:n.*124G>T
ENST00000681932.1:c.*704G>T	ENSP00000505826.1:n.*704G>T
ENST00000370300.8:c.1466G>T	ENSP00000359323.4:p.Arg489Leu
ENST00000370305.5:c.1244G>T	ENSP00000359328.1:p.Arg415Leu
ENST00000370308.8:n.1572G>T
ENST00000415228.5:c.*522G>T	ENSP00000416397.1:n.*522G>T
ENST00000415954.6:c.1511G>T	ENSP00000402038.2:p.Arg504Leu
ENST00000445187.5:c.505G>T	ENSP00000407580.1:n.505G>T
ENST00000462039.5:n.1413G>T
ENST00000498286.5:c.1391G>T	ENSP00000419561.1:p.Arg464Leu
ENST00000521156.5:c.56G>T	ENSP00000428863.1:p.Arg19Leu
ENST00000523763.1:c.39G>T
ENST00000524046.1:c.204-279G>T
NM_001123226.1:c.1511G>T	NP_001116698.1:p.Arg504Leu
NM_012123.3:c.1391G>T	NP_036255.2:p.Arg464Leu
NM_133645.2:c.1466G>T	NP_598400.1:p.Arg489Leu
XM_006715444.2:c.1169G>T	XP_006715507.1:p.Arg390Leu
XM_006715445.2:c.1169G>T	XP_006715508.1:p.Arg390Leu
XM_006715446.2:c.1391G>T	XP_006715509.1:p.Arg464Leu
XM_011535723.1:c.980G>T	XP_011534025.1:p.Arg327Leu
XM_011535724.1:c.980G>T	XP_011534026.1:p.Arg327Leu
XM_011535725.1:c.980G>T	XP_011534027.1:p.Arg327Leu
NM_001123226.2:c.1511G>T	NP_001116698.1:p.Arg504Leu
NM_012123.4:c.1391G>T MANE Select	NP_036255.2:p.Arg464Leu
NM_133645.3:c.1466G>T	NP_598400.1:p.Arg489Leu