UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37024591G>A | CA359490993 | NIPBL | c.5581G>A (p.Gly1861Ser) c.1-39987G>A (n.1-39987G>A) c.4837G>A (p.Gly1613Ser) c.5383G>A (p.Gly1795Ser) c.5200G>A (p.Gly1734Ser) c.4921G>A (p.Gly1641Ser) c.3964G>A (p.Gly1322Ser) c.3955G>A (p.Gly1319Ser) | |
| 5 | g.37024591G>C | CA359490996 | NIPBL | c.5581G>C (p.Gly1861Arg) c.1-39987G>C (n.1-39987G>C) c.4837G>C (p.Gly1613Arg) c.5383G>C (p.Gly1795Arg) c.5200G>C (p.Gly1734Arg) c.4921G>C (p.Gly1641Arg) c.3964G>C (p.Gly1322Arg) c.3955G>C (p.Gly1319Arg) | |
| 5 | g.37024591G>T | CA359490995 | NIPBL | c.5581G>T (p.Gly1861Cys) c.1-39987G>T (n.1-39987G>T) c.4837G>T (p.Gly1613Cys) c.5383G>T (p.Gly1795Cys) c.5200G>T (p.Gly1734Cys) c.4921G>T (p.Gly1641Cys) c.3964G>T (p.Gly1322Cys) c.3955G>T (p.Gly1319Cys) | |
| 5 | g.37024592G>A | CA359490997 | NIPBL | c.5582G>A (p.Gly1861Asp) c.1-39986G>A (n.1-39986G>A) c.4838G>A (p.Gly1613Asp) c.5384G>A (p.Gly1795Asp) c.5201G>A (p.Gly1734Asp) c.4922G>A (p.Gly1641Asp) c.3965G>A (p.Gly1322Asp) c.3956G>A (p.Gly1319Asp) | |
| 5 | g.37024592G>C | CA359490999 | NIPBL | c.5582G>C (p.Gly1861Ala) c.1-39986G>C (n.1-39986G>C) c.4838G>C (p.Gly1613Ala) c.5384G>C (p.Gly1795Ala) c.5201G>C (p.Gly1734Ala) c.4922G>C (p.Gly1641Ala) c.3965G>C (p.Gly1322Ala) c.3956G>C (p.Gly1319Ala) | |
| 5 | g.37024592G= | CA1539592386 | NIPBL | c.5582G= (p.Gly1861=) c.1-39986G= (n.1-39986G=) c.4838G= (p.Gly1613=) c.5384G= (p.Gly1795=) c.5201G= (p.Gly1734=) c.4922G= (p.Gly1641=) c.3965G= (p.Gly1322=) c.3956G= (p.Gly1319=) | |
| 5 | g.37024592G>T | CA359491001 | NIPBL | c.5582G>T (p.Gly1861Val) c.1-39986G>T (n.1-39986G>T) c.4838G>T (p.Gly1613Val) c.5384G>T (p.Gly1795Val) c.5201G>T (p.Gly1734Val) c.4922G>T (p.Gly1641Val) c.3965G>T (p.Gly1322Val) c.3956G>T (p.Gly1319Val) | ClinVar dbSNP |
| 5 | g.37024593T>A | CA443905506 | NIPBL | c.5583T>A (p.Gly1861=) c.1-39985T>A (n.1-39985T>A) c.4839T>A (p.Gly1613=) c.5385T>A (p.Gly1795=) c.5202T>A (p.Gly1734=) c.4923T>A (p.Gly1641=) c.3966T>A (p.Gly1322=) c.3957T>A (p.Gly1319=) | |
| 5 | g.37024593T>C | CA117030039 | NIPBL | c.5583T>C (p.Gly1861=) c.1-39985T>C (n.1-39985T>C) c.4839T>C (p.Gly1613=) c.5385T>C (p.Gly1795=) c.5202T>C (p.Gly1734=) c.4923T>C (p.Gly1641=) c.3966T>C (p.Gly1322=) c.3957T>C (p.Gly1319=) | dbSNP |
| 5 | g.37024593T>G | CA443905507 | NIPBL | c.5583T>G (p.Gly1861=) c.1-39985T>G (n.1-39985T>G) c.4839T>G (p.Gly1613=) c.5385T>G (p.Gly1795=) c.5202T>G (p.Gly1734=) c.4923T>G (p.Gly1641=) c.3966T>G (p.Gly1322=) c.3957T>G (p.Gly1319=) | |
| 5 | g.37024593T= | CA1539592392 | NIPBL | c.5583T= (p.Gly1861=) c.1-39985T= (n.1-39985T=) c.4839T= (p.Gly1613=) c.5385T= (p.Gly1795=) c.5202T= (p.Gly1734=) c.4923T= (p.Gly1641=) c.3966T= (p.Gly1322=) c.3957T= (p.Gly1319=) | |
| 5 | g.37024594A>C | CA359491004 | NIPBL | c.5584A>C (p.Ile1862Leu) c.1-39984A>C (n.1-39984A>C) c.4840A>C (p.Ile1614Leu) c.5386A>C (p.Ile1796Leu) c.5203A>C (p.Ile1735Leu) c.4924A>C (p.Ile1642Leu) c.3967A>C (p.Ile1323Leu) c.3958A>C (p.Ile1320Leu) | |
| 5 | g.37024594A>G | CA359491006 | NIPBL | c.5584A>G (p.Ile1862Val) c.1-39984A>G (n.1-39984A>G) c.4840A>G (p.Ile1614Val) c.5386A>G (p.Ile1796Val) c.5203A>G (p.Ile1735Val) c.4924A>G (p.Ile1642Val) c.3967A>G (p.Ile1323Val) c.3958A>G (p.Ile1320Val) | gnomAD v4 |
| 5 | g.37024594A>T | CA359491008 | NIPBL | c.5584A>T (p.Ile1862Phe) c.1-39984A>T (n.1-39984A>T) c.4840A>T (p.Ile1614Phe) c.5386A>T (p.Ile1796Phe) c.5203A>T (p.Ile1735Phe) c.4924A>T (p.Ile1642Phe) c.3967A>T (p.Ile1323Phe) c.3958A>T (p.Ile1320Phe) | |
| 5 | g.37024595T>A | CA359491010 | NIPBL | c.5585T>A (p.Ile1862Asn) c.1-39983T>A (n.1-39983T>A) c.4841T>A (p.Ile1614Asn) c.5387T>A (p.Ile1796Asn) c.5204T>A (p.Ile1735Asn) c.4925T>A (p.Ile1642Asn) c.3968T>A (p.Ile1323Asn) c.3959T>A (p.Ile1320Asn) | |
| 5 | g.37024595T>C | CA359491012 | NIPBL | c.5585T>C (p.Ile1862Thr) c.1-39983T>C (n.1-39983T>C) c.4841T>C (p.Ile1614Thr) c.5387T>C (p.Ile1796Thr) c.5204T>C (p.Ile1735Thr) c.4925T>C (p.Ile1642Thr) c.3968T>C (p.Ile1323Thr) c.3959T>C (p.Ile1320Thr) | |
| 5 | g.37024595T>G | CA359491014 | NIPBL | c.5585T>G (p.Ile1862Ser) c.1-39983T>G (n.1-39983T>G) c.4841T>G (p.Ile1614Ser) c.5387T>G (p.Ile1796Ser) c.5204T>G (p.Ile1735Ser) c.4925T>G (p.Ile1642Ser) c.3968T>G (p.Ile1323Ser) c.3959T>G (p.Ile1320Ser) | |
| 5 | g.37024596C>A | CA443905508 | NIPBL | c.5586C>A (p.Ile1862=) c.1-39982C>A (n.1-39982C>A) c.4842C>A (p.Ile1614=) c.5388C>A (p.Ile1796=) c.5205C>A (p.Ile1735=) c.4926C>A (p.Ile1642=) c.3969C>A (p.Ile1323=) c.3960C>A (p.Ile1320=) | |
| 5 | g.37024596C= | CA1539592399 | NIPBL | c.5586C= (p.Ile1862=) c.1-39982C= (n.1-39982C=) c.4842C= (p.Ile1614=) c.5388C= (p.Ile1796=) c.5205C= (p.Ile1735=) c.4926C= (p.Ile1642=) c.3969C= (p.Ile1323=) c.3960C= (p.Ile1320=) | |
| 5 | g.37024596C>G | CA359491016 | NIPBL | c.5586C>G (p.Ile1862Met) c.1-39982C>G (n.1-39982C>G) c.4842C>G (p.Ile1614Met) c.5388C>G (p.Ile1796Met) c.5205C>G (p.Ile1735Met) c.4926C>G (p.Ile1642Met) c.3969C>G (p.Ile1323Met) c.3960C>G (p.Ile1320Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37024596C>T | CA443905509 | NIPBL | c.5586C>T (p.Ile1862=) c.1-39982C>T (n.1-39982C>T) c.4842C>T (p.Ile1614=) c.5388C>T (p.Ile1796=) c.5205C>T (p.Ile1735=) c.4926C>T (p.Ile1642=) c.3969C>T (p.Ile1323=) c.3960C>T (p.Ile1320=) | |
| 5 | g.37024597A>C | CA359491020 | NIPBL | c.5587A>C (p.Ser1863Arg) c.1-39981A>C (n.1-39981A>C) c.4843A>C (p.Ser1615Arg) c.5389A>C (p.Ser1797Arg) c.5206A>C (p.Ser1736Arg) c.4927A>C (p.Ser1643Arg) c.3970A>C (p.Ser1324Arg) c.3961A>C (p.Ser1321Arg) | COSMIC COSMIC |
| 5 | g.37024597A>G | CA359491022 | NIPBL | c.5587A>G (p.Ser1863Gly) c.1-39981A>G (n.1-39981A>G) c.4843A>G (p.Ser1615Gly) c.5389A>G (p.Ser1797Gly) c.5206A>G (p.Ser1736Gly) c.4927A>G (p.Ser1643Gly) c.3970A>G (p.Ser1324Gly) c.3961A>G (p.Ser1321Gly) | |
| 5 | g.37024597A>T | CA359491018 | NIPBL | c.5587A>T (p.Ser1863Cys) c.1-39981A>T (n.1-39981A>T) c.4843A>T (p.Ser1615Cys) c.5389A>T (p.Ser1797Cys) c.5206A>T (p.Ser1736Cys) c.4927A>T (p.Ser1643Cys) c.3970A>T (p.Ser1324Cys) c.3961A>T (p.Ser1321Cys) | |
| 5 | g.37024598G>A | CA359491026 | NIPBL | c.5588G>A (p.Ser1863Asn) c.1-39980G>A (n.1-39980G>A) c.4844G>A (p.Ser1615Asn) c.5390G>A (p.Ser1797Asn) c.5207G>A (p.Ser1736Asn) c.4928G>A (p.Ser1643Asn) c.3971G>A (p.Ser1324Asn) c.3962G>A (p.Ser1321Asn) | |
| 5 | g.37024598G>C | CA359491024 | NIPBL | c.5588G>C (p.Ser1863Thr) c.1-39980G>C (n.1-39980G>C) c.4844G>C (p.Ser1615Thr) c.5390G>C (p.Ser1797Thr) c.5207G>C (p.Ser1736Thr) c.4928G>C (p.Ser1643Thr) c.3971G>C (p.Ser1324Thr) c.3962G>C (p.Ser1321Thr) | |
| 5 | g.37024598G>T | CA359491028 | NIPBL | c.5588G>T (p.Ser1863Ile) c.1-39980G>T (n.1-39980G>T) c.4844G>T (p.Ser1615Ile) c.5390G>T (p.Ser1797Ile) c.5207G>T (p.Ser1736Ile) c.4928G>T (p.Ser1643Ile) c.3971G>T (p.Ser1324Ile) c.3962G>T (p.Ser1321Ile) | |
| 5 | g.37024599T>A | CA359491030 | NIPBL | c.5589T>A (p.Ser1863Arg) c.1-39979T>A (n.1-39979T>A) c.4845T>A (p.Ser1615Arg) c.5391T>A (p.Ser1797Arg) c.5208T>A (p.Ser1736Arg) c.4929T>A (p.Ser1643Arg) c.3972T>A (p.Ser1324Arg) c.3963T>A (p.Ser1321Arg) | |
| 5 | g.37024599T>C | CA443905510 | NIPBL | c.5589T>C (p.Ser1863=) c.1-39979T>C (n.1-39979T>C) c.4845T>C (p.Ser1615=) c.5391T>C (p.Ser1797=) c.5208T>C (p.Ser1736=) c.4929T>C (p.Ser1643=) c.3972T>C (p.Ser1324=) c.3963T>C (p.Ser1321=) | |
| 5 | g.37024599T>G | CA359491032 | NIPBL | c.5589T>G (p.Ser1863Arg) c.1-39979T>G (n.1-39979T>G) c.4845T>G (p.Ser1615Arg) c.5391T>G (p.Ser1797Arg) c.5208T>G (p.Ser1736Arg) c.4929T>G (p.Ser1643Arg) c.3972T>G (p.Ser1324Arg) c.3963T>G (p.Ser1321Arg) | |
| 5 | g.37024600G>A | CA359491034 | NIPBL | c.5590G>A (p.Val1864Ile) c.1-39978G>A (n.1-39978G>A) c.4846G>A (p.Val1616Ile) c.5392G>A (p.Val1798Ile) c.5209G>A (p.Val1737Ile) c.4930G>A (p.Val1644Ile) c.3973G>A (p.Val1325Ile) c.3964G>A (p.Val1322Ile) | |
| 5 | g.37024600G>C | CA359491036 | NIPBL | c.5590G>C (p.Val1864Leu) c.1-39978G>C (n.1-39978G>C) c.4846G>C (p.Val1616Leu) c.5392G>C (p.Val1798Leu) c.5209G>C (p.Val1737Leu) c.4930G>C (p.Val1644Leu) c.3973G>C (p.Val1325Leu) c.3964G>C (p.Val1322Leu) | |
| 5 | g.37024600G>T | CA359491038 | NIPBL | c.5590G>T (p.Val1864Phe) c.1-39978G>T (n.1-39978G>T) c.4846G>T (p.Val1616Phe) c.5392G>T (p.Val1798Phe) c.5209G>T (p.Val1737Phe) c.4930G>T (p.Val1644Phe) c.3973G>T (p.Val1325Phe) c.3964G>T (p.Val1322Phe) | |
| 5 | g.37024601T>A | CA359491041 | NIPBL | c.5591T>A (p.Val1864Asp) c.1-39977T>A (n.1-39977T>A) c.4847T>A (p.Val1616Asp) c.5393T>A (p.Val1798Asp) c.5210T>A (p.Val1737Asp) c.4931T>A (p.Val1644Asp) c.3974T>A (p.Val1325Asp) c.3965T>A (p.Val1322Asp) | |
| 5 | g.37024601T>C | CA359491043 | NIPBL | c.5591T>C (p.Val1864Ala) c.1-39977T>C (n.1-39977T>C) c.4847T>C (p.Val1616Ala) c.5393T>C (p.Val1798Ala) c.5210T>C (p.Val1737Ala) c.4931T>C (p.Val1644Ala) c.3974T>C (p.Val1325Ala) c.3965T>C (p.Val1322Ala) | |
| 5 | g.37024601T>G | CA359491045 | NIPBL | c.5591T>G (p.Val1864Gly) c.1-39977T>G (n.1-39977T>G) c.4847T>G (p.Val1616Gly) c.5393T>G (p.Val1798Gly) c.5210T>G (p.Val1737Gly) c.4931T>G (p.Val1644Gly) c.3974T>G (p.Val1325Gly) c.3965T>G (p.Val1322Gly) | COSMIC COSMIC |
| 5 | g.37024602C>A | CA443905511 | NIPBL | c.5592C>A (p.Val1864=) c.1-39976C>A (n.1-39976C>A) c.4848C>A (p.Val1616=) c.5394C>A (p.Val1798=) c.5211C>A (p.Val1737=) c.4932C>A (p.Val1644=) c.3975C>A (p.Val1325=) c.3966C>A (p.Val1322=) | |
| 5 | g.37024602C>G | CA443905512 | NIPBL | c.5592C>G (p.Val1864=) c.1-39976C>G (n.1-39976C>G) c.4848C>G (p.Val1616=) c.5394C>G (p.Val1798=) c.5211C>G (p.Val1737=) c.4932C>G (p.Val1644=) c.3975C>G (p.Val1325=) c.3966C>G (p.Val1322=) | |
| 5 | g.37024602C>T | CA443905513 | NIPBL | c.5592C>T (p.Val1864=) c.1-39976C>T (n.1-39976C>T) c.4848C>T (p.Val1616=) c.5394C>T (p.Val1798=) c.5211C>T (p.Val1737=) c.4932C>T (p.Val1644=) c.3975C>T (p.Val1325=) c.3966C>T (p.Val1322=) | |
| 5 | g.37024603A>C | CA443905514 | NIPBL | c.5593A>C (p.Arg1865=) c.1-39975A>C (n.1-39975A>C) c.4849A>C (p.Arg1617=) c.5395A>C (p.Arg1799=) c.5212A>C (p.Arg1738=) c.4933A>C (p.Arg1645=) c.3976A>C (p.Arg1326=) c.3967A>C (p.Arg1323=) | gnomAD v4 |
| 5 | g.37024603A>G | CA359491047 | NIPBL | c.5593A>G (p.Arg1865Gly) c.1-39975A>G (n.1-39975A>G) c.4849A>G (p.Arg1617Gly) c.5395A>G (p.Arg1799Gly) c.5212A>G (p.Arg1738Gly) c.4933A>G (p.Arg1645Gly) c.3976A>G (p.Arg1326Gly) c.3967A>G (p.Arg1323Gly) | |
| 5 | g.37024603A>T | CA359491049 | NIPBL | c.5593A>T (p.Arg1865Trp) c.1-39975A>T (n.1-39975A>T) c.4849A>T (p.Arg1617Trp) c.5395A>T (p.Arg1799Trp) c.5212A>T (p.Arg1738Trp) c.4933A>T (p.Arg1645Trp) c.3976A>T (p.Arg1326Trp) c.3967A>T (p.Arg1323Trp) | |
| 5 | g.37024604G>A | CA359491051 | NIPBL | c.5594G>A (p.Arg1865Lys) c.1-39974G>A (n.1-39974G>A) c.4850G>A (p.Arg1617Lys) c.5396G>A (p.Arg1799Lys) c.5213G>A (p.Arg1738Lys) c.4934G>A (p.Arg1645Lys) c.3977G>A (p.Arg1326Lys) c.3968G>A (p.Arg1323Lys) | |
| 5 | g.37024604G>C | CA359491053 | NIPBL | c.5594G>C (p.Arg1865Thr) c.1-39974G>C (n.1-39974G>C) c.4850G>C (p.Arg1617Thr) c.5396G>C (p.Arg1799Thr) c.5213G>C (p.Arg1738Thr) c.4934G>C (p.Arg1645Thr) c.3977G>C (p.Arg1326Thr) c.3968G>C (p.Arg1323Thr) | |
| 5 | g.37024604G>T | CA359491055 | NIPBL | c.5594G>T (p.Arg1865Met) c.1-39974G>T (n.1-39974G>T) c.4850G>T (p.Arg1617Met) c.5396G>T (p.Arg1799Met) c.5213G>T (p.Arg1738Met) c.4934G>T (p.Arg1645Met) c.3977G>T (p.Arg1326Met) c.3968G>T (p.Arg1323Met) | |
| 5 | g.37024605G>A | CA443905515 | NIPBL | c.5595G>A (p.Arg1865=) c.1-39973G>A (n.1-39973G>A) c.4851G>A (p.Arg1617=) c.5397G>A (p.Arg1799=) c.5214G>A (p.Arg1738=) c.4935G>A (p.Arg1645=) c.3978G>A (p.Arg1326=) c.3969G>A (p.Arg1323=) | COSMIC COSMIC |
| 5 | g.37024605G>C | CA359491058 | NIPBL | c.5595G>C (p.Arg1865Ser) c.1-39973G>C (n.1-39973G>C) c.4851G>C (p.Arg1617Ser) c.5397G>C (p.Arg1799Ser) c.5214G>C (p.Arg1738Ser) c.4935G>C (p.Arg1645Ser) c.3978G>C (p.Arg1326Ser) c.3969G>C (p.Arg1323Ser) | |
| 5 | g.37024605G>T | CA359491056 | NIPBL | c.5595G>T (p.Arg1865Ser) c.1-39973G>T (n.1-39973G>T) c.4851G>T (p.Arg1617Ser) c.5397G>T (p.Arg1799Ser) c.5214G>T (p.Arg1738Ser) c.4935G>T (p.Arg1645Ser) c.3978G>T (p.Arg1326Ser) c.3969G>T (p.Arg1323Ser) | |
| 5 | g.37024606A>C | CA359491060 | NIPBL | c.5596A>C (p.Lys1866Gln) c.1-39972A>C (n.1-39972A>C) c.4852A>C (p.Lys1618Gln) c.5398A>C (p.Lys1800Gln) c.5215A>C (p.Lys1739Gln) c.4936A>C (p.Lys1646Gln) c.3979A>C (p.Lys1327Gln) c.3970A>C (p.Lys1324Gln) | |
| 5 | g.37024606A>G | CA359491063 | NIPBL | c.5596A>G (p.Lys1866Glu) c.1-39972A>G (n.1-39972A>G) c.4852A>G (p.Lys1618Glu) c.5398A>G (p.Lys1800Glu) c.5215A>G (p.Lys1739Glu) c.4936A>G (p.Lys1646Glu) c.3979A>G (p.Lys1327Glu) c.3970A>G (p.Lys1324Glu) |