Transcript #00000142

Transcript name protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase, transcript variant 1
Gene name POMGNT1 (protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase)
Chromosome 1
Transcript - NCBI ID NM_017739.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060209.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+? i02-i09 c.-50-?_751+?del - r.? p.?
+/+? 03 c.25dupC - r.(25dupc) p.(Leu9Profs*20)
+/+? 05 c.351delC - r.(351delc) p.(Thr118Argfs*26)
+/+? 07 c.447delT - r.(447delu) p.(Phe149Leufs*19)
+?/+? 07 c.526A>C - r.(526a>c) p.(Thr176Ala)
+?/+? 08 c.575T>C - r.(575u>c) p.(Leu192Pro)
+/+? 08 c.593delG - r.(593delg) p.(Ser198Thrfs*43)
+?/+? 08 c.594C>G - r.(594c>g) p.(Ser198Arg)
+/+? 08 c.636C>T - r.535_652del p.Asp179Valfs*23
+/+? 08 c.643C>T - r.535_652del p.Asp179Valfs*23
+?/+? i08 c.652+1G>A - r.spl? p.?
+/+? 09 c.667G>A - r.(667g>a) p.(Glu223Lys)
+?/+? - c.703G>C - r.(?) p.(Gly235Arg)
+?/+? 10 c.794G>A - r.(794g>a) p.(Arg265His)
+/+? 10 c.806G>A - r.(806g>a) p.(Cys269Tyr)
+/+? i10 c.879+5G>A - r.spl? p.?
+/+? i10 c.879+5G>T - r.[879_880ins879+1_879+25; c.879+5G>T] p.Pro293_Leu294ins7*8
+/+? 11 c.931C>T - r.(931c>u) p.(Arg311*)
+?/+? 11 c.932G>A - r.(932g>a) p.(Arg311Gln)
+/+? 12 c.982dupG - r.(982dupg) p.(Val328Glyfs*11)
+?/+? 12 c.1011dupT - r.(1011dupu) p.(Asp338*)
+?/+? 13 c.1100G>A - r.(1100g>a) p.(Arg367His)
+?/+? 26 c.1274G>C - r.(1274g>c) p.(Trp425Ser)
+/+? i16 c.1285-2A>G - r.[1284_1285ins1284+1_1284-1; 1285-2a>g, 1285_1413del, =] p.[Gln428_Gly429ins27, Gly429_Lys471del, =]
+?/+? 17 c.1319T>G - r.(1319u>g) p.(Leu440Arg)
+/+? 17 c.1324C>T - r.(1324c>u) p.(Arg442Cys)
+/+? 17 c.1325G>A - r.(1325g>a) p.(Arg442His)
+?/+? 17 c.1325G>T - r.(1325g>u) p.(Arg442Leu)
+/+? 17 c.1342G>C - r.(1342g>c) p.(Gly448Arg)
+/+? 17 c.1350_1354delCTGGG - r.(1350_1354delcuggg) p.(Trp451Alafs*11)
+?/+? 17 c.1385T>A - r.(1385a>u) p.(Leu462His)
+/+? 18 c.1469G>A - r.(1469g>a) p.(Cys490Tyr)
+/+? 18 c.1478C>G - r.(1478c>g) p.(Pro493Arg)
+?/+? 18 c.1513G>A - r.(1513g>a) p.(Gly505Ser)
+/+? i18 c.1539+1G>A - r.[1414_1539del, 1539_?ins1539+1_?; 1539+1g>a] p.[Leu472_His513del, GLu514_Thr660delMSGRQGAGHSVAins]
+/+? i18 c.1539+1G>T - r.[1414_1539del, 1539_?ins1539+1_?; 1539+1g>u] p.[Leu472_His513del, GLu514_Thr660delLSGRQGAGHSVAins]
+/+ i18-end c.1539+184_*2354del - r.? p.?
+/+ i18-end c.1539+261_*2405del - r.? p.?
+/+? i18 c.1540-2A>G - r.spl? p.?
+?/+? 18 c.1545delC - r.(?) p.(Tyr516Thrfs*21)
+/+? 20 c.1649G>A - r.(1649g>a) p.(Ser550Asn)
?/. - c.1666G>A - r.(?) p.(Asp556Asn)
?/. - c.1666G>A - r.(?) p.(Asp556Asn)
+/+? 21 c.1719delC - r.(1719delc) p.(His573Glnfs*61)
+/+? 21 c.1738C>T - r.(1738c>u) p.(Arg580*)
+/+? 21 c.1769G>A - r.(1769g>a) p.(Trp590*)
+?/+? - c.1785+1G>A - r.spl? p.?
+?/+? i21 c.1785+2T>G - r.spl? p.?
+/+? 22b c.1814G>A - r.(1814g>a) p.(Arg605His)
+?/+? 22b c.1814G>C - r.(1814g>c) p.(Arg605Pro)
+/+? 22b c.1864delC - r.(1864delc) p.(Leu622Trpfs*12)
+/+? 22b c.1876delG - r.(1876delg) p.(Val626Serfs*8)
+/+? i22b c.1895+1G>A - r.spl? p.?
+/+? i22b c.1895+1G>T - r.1895_1896ins1895+1_1896-1 p.?
+/+? i22b c.1895+1_1895+4delGTGA - r.[1895_1896ins1895+1_1896-1; 1895+1_1895+4delGTGA] p.Val633*
+/+? i22b c.1896-1G>C - r.1896_1897delag p.Val633Glufs*53
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