Canonical Allele Identifier: CA450893343

Gene: MTO1

Linked Data

• dbSNP Id: rs1181483367
• gnomAD v3: 6-73482075-C-T
• gnomAD v4: 6-73482075-C-T
• MyVariant Identifiers: chr6:g.74191798C>T (hg19) ; chr6:g.73482075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73482075C>T , CM000668.2:g.73482075C>T	GRCh38
NC_000006.11:g.74191798C>T , CM000668.1:g.74191798C>T	GRCh37
NC_000006.10:g.74248519C>T	NCBI36
NG_032856.1:g.25345C>T
NG_032856.2:g.25345C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442897.7:c.*427C>T	ENSP00000396529.2:n.*427C>T
ENST00000445187.6:c.*438C>T	ENSP00000407580.2:n.*438C>T
ENST00000487960.2:n.1378C>T
ENST00000498286.6:c.1296C>T MANE Select	ENSP00000419561.2:p.Val432=
ENST00000521156.6:c.1074C>T	ENSP00000428863.2:p.Val358=
ENST00000522205.6:c.*839C>T	ENSP00000428903.2:n.*839C>T
ENST00000523763.2:c.1296C>T	ENSP00000429595.2:p.Val432=
ENST00000524046.2:c.*889C>T	ENSP00000430660.2:n.*889C>T
ENST00000679352.1:c.*668C>T	ENSP00000505776.1:n.*668C>T
ENST00000679364.1:c.*438C>T	ENSP00000505626.1:n.*438C>T
ENST00000679411.1:c.*1091C>T	ENSP00000506532.1:n.*1091C>T
ENST00000679418.1:c.*850C>T	ENSP00000505278.1:n.*850C>T
ENST00000679524.1:c.*550C>T	ENSP00000505038.1:n.*550C>T
ENST00000679591.1:c.1289C>T	ENSP00000505656.1:n.1289C>T
ENST00000679592.1:c.*1110C>T	ENSP00000505736.1:n.*1110C>T
ENST00000679604.1:c.*608-374C>T	ENSP00000506268.1:n.*608-374C>T
ENST00000679612.1:n.1661C>T
ENST00000679627.1:c.*140C>T	ENSP00000505373.1:n.*140C>T
ENST00000679675.1:c.1336-374C>T	ENSP00000505458.1:n.1336-374C>T
ENST00000679730.1:c.*502-374C>T	ENSP00000506698.1:n.*502-374C>T
ENST00000679808.1:c.*113C>T	ENSP00000506127.1:n.*113C>T
ENST00000679870.1:c.*850C>T	ENSP00000505401.1:n.*850C>T
ENST00000679900.1:c.*340C>T	ENSP00000505653.1:n.*340C>T
ENST00000679905.1:c.1261-374C>T	ENSP00000505787.1:n.1261-374C>T
ENST00000679947.1:c.*140C>T	ENSP00000506630.1:n.*140C>T
ENST00000679993.1:n.1375C>T
ENST00000680034.1:c.*543C>T	ENSP00000505785.1:n.*543C>T
ENST00000680131.1:c.*29C>T	ENSP00000505906.1:n.*29C>T
ENST00000680195.1:n.1493C>T
ENST00000680238.1:c.*839C>T	ENSP00000506260.1:n.*839C>T
ENST00000680266.1:n.1661C>T
ENST00000680289.1:c.*839C>T	ENSP00000505097.1:n.*839C>T
ENST00000680350.1:n.1625+1270C>T
ENST00000680405.1:n.1628C>T
ENST00000680428.1:c.*253C>T	ENSP00000506210.1:n.*253C>T
ENST00000680544.1:c.*804-374C>T	ENSP00000506702.1:n.*804-374C>T
ENST00000680563.1:c.955C>T
ENST00000680570.1:n.1672C>T
ENST00000680601.1:c.*820C>T	ENSP00000506582.1:n.*820C>T
ENST00000680609.1:c.*427C>T	ENSP00000505053.1:n.*427C>T
ENST00000680686.1:c.1074C>T	ENSP00000506609.1:p.Val358=
ENST00000680758.1:c.*1061C>T	ENSP00000505192.1:n.*1061C>T
ENST00000680775.1:c.*674C>T	ENSP00000505199.1:n.*674C>T
ENST00000680794.1:c.*1045-374C>T	ENSP00000506362.1:n.*1045-374C>T
ENST00000680841.1:c.1275C>T	ENSP00000506524.1:n.1275C>T
ENST00000680875.1:c.*78-374C>T	ENSP00000506042.1:n.*78-374C>T
ENST00000680902.1:c.*267C>T	ENSP00000505813.1:n.*267C>T
ENST00000681094.1:c.*113C>T	ENSP00000505394.1:n.*113C>T
ENST00000681141.1:c.*854-374C>T	ENSP00000506035.1:n.*854-374C>T
ENST00000681165.1:c.*850C>T	ENSP00000506088.1:n.*850C>T
ENST00000681204.1:c.1296C>T	ENSP00000505819.1:p.Val432=
ENST00000681212.1:n.1742-374C>T
ENST00000681254.1:c.*955C>T	ENSP00000506575.1:n.*955C>T
ENST00000681267.1:c.*78-374C>T	ENSP00000506570.1:n.*78-374C>T
ENST00000681284.1:n.1661C>T
ENST00000681294.1:c.*253C>T	ENSP00000505615.1:n.*253C>T
ENST00000681337.1:c.*113C>T	ENSP00000506108.1:n.*113C>T
ENST00000681438.1:c.*391+1270C>T	ENSP00000505135.1:n.*391+1270C>T
ENST00000681500.1:c.1014C>T	ENSP00000506439.1:p.Val338=
ENST00000681509.1:c.*29C>T	ENSP00000506571.1:n.*29C>T
ENST00000681579.1:c.1039-374C>T	ENSP00000505732.1:n.1039-374C>T
ENST00000681610.1:c.1260+1270C>T	ENSP00000505229.1:n.1260+1270C>T
ENST00000681620.1:c.*105-374C>T	ENSP00000505386.1:n.*105-374C>T
ENST00000681624.1:c.*1063C>T	ENSP00000505820.1:n.*1063C>T
ENST00000681691.1:c.1296C>T	ENSP00000505613.1:p.Val432=
ENST00000681705.1:c.*29C>T	ENSP00000506381.1:n.*29C>T
ENST00000681890.1:c.*29C>T	ENSP00000505751.1:n.*29C>T
ENST00000681932.1:c.*609C>T	ENSP00000505826.1:n.*609C>T
ENST00000370300.8:c.1371C>T	ENSP00000359323.4:p.Val457=
ENST00000370305.5:c.1149C>T	ENSP00000359328.1:p.Val383=
ENST00000370308.8:n.1477C>T
ENST00000415228.5:c.*427C>T	ENSP00000416397.1:n.*427C>T
ENST00000415954.6:c.1416C>T	ENSP00000402038.2:p.Val472=
ENST00000445187.5:c.410C>T	ENSP00000407580.1:n.410C>T
ENST00000462039.5:n.1318C>T
ENST00000498286.5:c.1296C>T	ENSP00000419561.1:p.Val432=
ENST00000524046.1:c.204-374C>T
NM_001123226.1:c.1416C>T	NP_001116698.1:p.Val472=
NM_012123.3:c.1296C>T	NP_036255.2:p.Val432=
NM_133645.2:c.1371C>T	NP_598400.1:p.Val457=
XM_006715444.2:c.1074C>T	XP_006715507.1:p.Val358=
XM_006715445.2:c.1074C>T	XP_006715508.1:p.Val358=
XM_006715446.2:c.1296C>T	XP_006715509.1:p.Val432=
XM_006715447.2:c.*29C>T	XP_006715510.1:n.*29C>T
XM_011535723.1:c.885C>T	XP_011534025.1:p.Val295=
XM_011535724.1:c.885C>T	XP_011534026.1:p.Val295=
XM_011535725.1:c.885C>T	XP_011534027.1:p.Val295=
NM_001123226.2:c.1416C>T	NP_001116698.1:p.Val472=
NM_012123.4:c.1296C>T MANE Select	NP_036255.2:p.Val432=
NM_133645.3:c.1371C>T	NP_598400.1:p.Val457=