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.37049116A= | CA1539568319 | NIPBL | c.6769A= (p.Lys2257=) c.1-15462A= (n.1-15462A=) c.6025A= (p.Lys2009=) c.6571A= (p.Lys2191=) c.6388A= (p.Lys2130=) c.6109A= (p.Lys2037=) c.5152A= (p.Lys1718=) c.5143A= (p.Lys1715=) | |
| 5 | g.37049116A>C | CA117049198 | NIPBL | c.6769A>C (p.Lys2257Gln) c.1-15462A>C (n.1-15462A>C) c.6025A>C (p.Lys2009Gln) c.6571A>C (p.Lys2191Gln) c.6388A>C (p.Lys2130Gln) c.6109A>C (p.Lys2037Gln) c.5152A>C (p.Lys1718Gln) c.5143A>C (p.Lys1715Gln) | dbSNP |
| 5 | g.37049116A>G | CA359508693 | NIPBL | c.6769A>G (p.Lys2257Glu) c.1-15462A>G (n.1-15462A>G) c.6025A>G (p.Lys2009Glu) c.6571A>G (p.Lys2191Glu) c.6388A>G (p.Lys2130Glu) c.6109A>G (p.Lys2037Glu) c.5152A>G (p.Lys1718Glu) c.5143A>G (p.Lys1715Glu) | ClinVar dbSNP |
| 5 | g.37049116A>T | CA359508694 | NIPBL | c.6769A>T (p.Lys2257Ter) c.1-15462A>T (n.1-15462A>T) c.6025A>T (p.Lys2009Ter) c.6571A>T (p.Lys2191Ter) c.6388A>T (p.Lys2130Ter) c.6109A>T (p.Lys2037Ter) c.5152A>T (p.Lys1718Ter) c.5143A>T (p.Lys1715Ter) | |
| 5 | g.37049117A>C | CA359508695 | NIPBL | c.6770A>C (p.Lys2257Thr) c.1-15461A>C (n.1-15461A>C) c.6026A>C (p.Lys2009Thr) c.6572A>C (p.Lys2191Thr) c.6389A>C (p.Lys2130Thr) c.6110A>C (p.Lys2037Thr) c.5153A>C (p.Lys1718Thr) c.5144A>C (p.Lys1715Thr) | |
| 5 | g.37049117A>G | CA359508696 | NIPBL | c.6770A>G (p.Lys2257Arg) c.1-15461A>G (n.1-15461A>G) c.6026A>G (p.Lys2009Arg) c.6572A>G (p.Lys2191Arg) c.6389A>G (p.Lys2130Arg) c.6110A>G (p.Lys2037Arg) c.5153A>G (p.Lys1718Arg) c.5144A>G (p.Lys1715Arg) | |
| 5 | g.37049117A>T | CA359508697 | NIPBL | c.6770A>T (p.Lys2257Ile) c.1-15461A>T (n.1-15461A>T) c.6026A>T (p.Lys2009Ile) c.6572A>T (p.Lys2191Ile) c.6389A>T (p.Lys2130Ile) c.6110A>T (p.Lys2037Ile) c.5153A>T (p.Lys1718Ile) c.5144A>T (p.Lys1715Ile) | |
| 5 | g.37049118A>C | CA359508698 | NIPBL | c.6771A>C (p.Lys2257Asn) c.1-15460A>C (n.1-15460A>C) c.6027A>C (p.Lys2009Asn) c.6573A>C (p.Lys2191Asn) c.6390A>C (p.Lys2130Asn) c.6111A>C (p.Lys2037Asn) c.5154A>C (p.Lys1718Asn) c.5145A>C (p.Lys1715Asn) | |
| 5 | g.37049118A>G | CA443907718 | NIPBL | c.6771A>G (p.Lys2257=) c.1-15460A>G (n.1-15460A>G) c.6027A>G (p.Lys2009=) c.6573A>G (p.Lys2191=) c.6390A>G (p.Lys2130=) c.6111A>G (p.Lys2037=) c.5154A>G (p.Lys1718=) c.5145A>G (p.Lys1715=) | |
| 5 | g.37049118A>T | CA359508699 | NIPBL | c.6771A>T (p.Lys2257Asn) c.1-15460A>T (n.1-15460A>T) c.6027A>T (p.Lys2009Asn) c.6573A>T (p.Lys2191Asn) c.6390A>T (p.Lys2130Asn) c.6111A>T (p.Lys2037Asn) c.5154A>T (p.Lys1718Asn) c.5145A>T (p.Lys1715Asn) | COSMIC COSMIC |
| 5 | g.37049119G>A | CA359508700 | NIPBL | c.6772G>A (p.Val2258Ile) c.1-15459G>A (n.1-15459G>A) c.6028G>A (p.Val2010Ile) c.6574G>A (p.Val2192Ile) c.6391G>A (p.Val2131Ile) c.6112G>A (p.Val2038Ile) c.5155G>A (p.Val1719Ile) c.5146G>A (p.Val1716Ile) | |
| 5 | g.37049119G>C | CA359508702 | NIPBL | c.6772G>C (p.Val2258Leu) c.1-15459G>C (n.1-15459G>C) c.6028G>C (p.Val2010Leu) c.6574G>C (p.Val2192Leu) c.6391G>C (p.Val2131Leu) c.6112G>C (p.Val2038Leu) c.5155G>C (p.Val1719Leu) c.5146G>C (p.Val1716Leu) | dbSNP |
| 5 | g.37049119G= | CA1539568331 | NIPBL | c.6772G= (p.Val2258=) c.1-15459G= (n.1-15459G=) c.6028G= (p.Val2010=) c.6574G= (p.Val2192=) c.6391G= (p.Val2131=) c.6112G= (p.Val2038=) c.5155G= (p.Val1719=) c.5146G= (p.Val1716=) | |
| 5 | g.37049119G>T | CA359508701 | NIPBL | c.6772G>T (p.Val2258Phe) c.1-15459G>T (n.1-15459G>T) c.6028G>T (p.Val2010Phe) c.6574G>T (p.Val2192Phe) c.6391G>T (p.Val2131Phe) c.6112G>T (p.Val2038Phe) c.5155G>T (p.Val1719Phe) c.5146G>T (p.Val1716Phe) | |
| 5 | g.37049120T>A | CA359508703 | NIPBL | c.6773T>A (p.Val2258Asp) c.1-15458T>A (n.1-15458T>A) c.6029T>A (p.Val2010Asp) c.6575T>A (p.Val2192Asp) c.6392T>A (p.Val2131Asp) c.6113T>A (p.Val2038Asp) c.5156T>A (p.Val1719Asp) c.5147T>A (p.Val1716Asp) | |
| 5 | g.37049120T>C | CA359508705 | NIPBL | c.6773T>C (p.Val2258Ala) c.1-15458T>C (n.1-15458T>C) c.6029T>C (p.Val2010Ala) c.6575T>C (p.Val2192Ala) c.6392T>C (p.Val2131Ala) c.6113T>C (p.Val2038Ala) c.5156T>C (p.Val1719Ala) c.5147T>C (p.Val1716Ala) | |
| 5 | g.37049120T>G | CA359508704 | NIPBL | c.6773T>G (p.Val2258Gly) c.1-15458T>G (n.1-15458T>G) c.6029T>G (p.Val2010Gly) c.6575T>G (p.Val2192Gly) c.6392T>G (p.Val2131Gly) c.6113T>G (p.Val2038Gly) c.5156T>G (p.Val1719Gly) c.5147T>G (p.Val1716Gly) | |
| 5 | g.37049121T>A | CA443907730 | NIPBL | c.6774T>A (p.Val2258=) c.1-15457T>A (n.1-15457T>A) c.6030T>A (p.Val2010=) c.6576T>A (p.Val2192=) c.6393T>A (p.Val2131=) c.6114T>A (p.Val2038=) c.5157T>A (p.Val1719=) c.5148T>A (p.Val1716=) | |
| 5 | g.37049121T>C | CA443907732 | NIPBL | c.6774T>C (p.Val2258=) c.1-15457T>C (n.1-15457T>C) c.6030T>C (p.Val2010=) c.6576T>C (p.Val2192=) c.6393T>C (p.Val2131=) c.6114T>C (p.Val2038=) c.5157T>C (p.Val1719=) c.5148T>C (p.Val1716=) | |
| 5 | g.37049121T>G | CA443907733 | NIPBL | c.6774T>G (p.Val2258=) c.1-15457T>G (n.1-15457T>G) c.6030T>G (p.Val2010=) c.6576T>G (p.Val2192=) c.6393T>G (p.Val2131=) c.6114T>G (p.Val2038=) c.5157T>G (p.Val1719=) c.5148T>G (p.Val1716=) | |
| 5 | g.37049122G>A | CA359508706 | NIPBL | c.6775G>A (p.Ala2259Thr) c.1-15456G>A (n.1-15456G>A) c.6031G>A (p.Ala2011Thr) c.6577G>A (p.Ala2193Thr) c.6394G>A (p.Ala2132Thr) c.6115G>A (p.Ala2039Thr) c.5158G>A (p.Ala1720Thr) c.5149G>A (p.Ala1717Thr) | |
| 5 | g.37049122G>C | CA359508708 | NIPBL | c.6775G>C (p.Ala2259Pro) c.1-15456G>C (n.1-15456G>C) c.6031G>C (p.Ala2011Pro) c.6577G>C (p.Ala2193Pro) c.6394G>C (p.Ala2132Pro) c.6115G>C (p.Ala2039Pro) c.5158G>C (p.Ala1720Pro) c.5149G>C (p.Ala1717Pro) | |
| 5 | g.37049122G= | CA1539568334 | NIPBL | c.6775G= (p.Ala2259=) c.1-15456G= (n.1-15456G=) c.6031G= (p.Ala2011=) c.6577G= (p.Ala2193=) c.6394G= (p.Ala2132=) c.6115G= (p.Ala2039=) c.5158G= (p.Ala1720=) c.5149G= (p.Ala1717=) | |
| 5 | g.37049122G>T | CA359508707 | NIPBL | c.6775G>T (p.Ala2259Ser) c.1-15456G>T (n.1-15456G>T) c.6031G>T (p.Ala2011Ser) c.6577G>T (p.Ala2193Ser) c.6394G>T (p.Ala2132Ser) c.6115G>T (p.Ala2039Ser) c.5158G>T (p.Ala1720Ser) c.5149G>T (p.Ala1717Ser) | dbSNP |
| 5 | g.37049123C>A | CA359508709 | NIPBL | c.6776C>A (p.Ala2259Glu) c.1-15455C>A (n.1-15455C>A) c.6032C>A (p.Ala2011Glu) c.6578C>A (p.Ala2193Glu) c.6395C>A (p.Ala2132Glu) c.6116C>A (p.Ala2039Glu) c.5159C>A (p.Ala1720Glu) c.5150C>A (p.Ala1717Glu) | |
| 5 | g.37049123C>G | CA359508710 | NIPBL | c.6776C>G (p.Ala2259Gly) c.1-15455C>G (n.1-15455C>G) c.6032C>G (p.Ala2011Gly) c.6578C>G (p.Ala2193Gly) c.6395C>G (p.Ala2132Gly) c.6116C>G (p.Ala2039Gly) c.5159C>G (p.Ala1720Gly) c.5150C>G (p.Ala1717Gly) | |
| 5 | g.37049123C>T | CA359508711 | NIPBL | c.6776C>T (p.Ala2259Val) c.1-15455C>T (n.1-15455C>T) c.6032C>T (p.Ala2011Val) c.6578C>T (p.Ala2193Val) c.6395C>T (p.Ala2132Val) c.6116C>T (p.Ala2039Val) c.5159C>T (p.Ala1720Val) c.5150C>T (p.Ala1717Val) | COSMIC COSMIC |
| 5 | g.37049124A= | CA1539568338 | NIPBL | c.6777A= (p.Ala2259=) c.1-15454A= (n.1-15454A=) c.6033A= (p.Ala2011=) c.6579A= (p.Ala2193=) c.6396A= (p.Ala2132=) c.6117A= (p.Ala2039=) c.5160A= (p.Ala1720=) c.5151A= (p.Ala1717=) | |
| 5 | g.37049124A>C | CA443907744 | NIPBL | c.6777A>C (p.Ala2259=) c.1-15454A>C (n.1-15454A>C) c.6033A>C (p.Ala2011=) c.6579A>C (p.Ala2193=) c.6396A>C (p.Ala2132=) c.6117A>C (p.Ala2039=) c.5160A>C (p.Ala1720=) c.5151A>C (p.Ala1717=) | gnomAD v4 |
| 5 | g.37049124A>G | CA443907746 | NIPBL | c.6777A>G (p.Ala2259=) c.1-15454A>G (n.1-15454A>G) c.6033A>G (p.Ala2011=) c.6579A>G (p.Ala2193=) c.6396A>G (p.Ala2132=) c.6117A>G (p.Ala2039=) c.5160A>G (p.Ala1720=) c.5151A>G (p.Ala1717=) | |
| 5 | g.37049124A>T | CA117049223 | NIPBL | c.6777A>T (p.Ala2259=) c.1-15454A>T (n.1-15454A>T) c.6033A>T (p.Ala2011=) c.6579A>T (p.Ala2193=) c.6396A>T (p.Ala2132=) c.6117A>T (p.Ala2039=) c.5160A>T (p.Ala1720=) c.5151A>T (p.Ala1717=) | dbSNP |
| 5 | g.37049125A>C | CA359508712 | NIPBL | c.6778A>C (p.Lys2260Gln) c.1-15453A>C (n.1-15453A>C) c.6034A>C (p.Lys2012Gln) c.6580A>C (p.Lys2194Gln) c.6397A>C (p.Lys2133Gln) c.6118A>C (p.Lys2040Gln) c.5161A>C (p.Lys1721Gln) c.5152A>C (p.Lys1718Gln) | |
| 5 | g.37049125A>G | CA359508713 | NIPBL | c.6778A>G (p.Lys2260Glu) c.1-15453A>G (n.1-15453A>G) c.6034A>G (p.Lys2012Glu) c.6580A>G (p.Lys2194Glu) c.6397A>G (p.Lys2133Glu) c.6118A>G (p.Lys2040Glu) c.5161A>G (p.Lys1721Glu) c.5152A>G (p.Lys1718Glu) | |
| 5 | g.37049125A>T | CA359508714 | NIPBL | c.6778A>T (p.Lys2260Ter) c.1-15453A>T (n.1-15453A>T) c.6034A>T (p.Lys2012Ter) c.6580A>T (p.Lys2194Ter) c.6397A>T (p.Lys2133Ter) c.6118A>T (p.Lys2040Ter) c.5161A>T (p.Lys1721Ter) c.5152A>T (p.Lys1718Ter) | |
| 5 | g.37049126A>C | CA359508715 | NIPBL | c.6779A>C (p.Lys2260Thr) c.1-15452A>C (n.1-15452A>C) c.6035A>C (p.Lys2012Thr) c.6581A>C (p.Lys2194Thr) c.6398A>C (p.Lys2133Thr) c.6119A>C (p.Lys2040Thr) c.5162A>C (p.Lys1721Thr) c.5153A>C (p.Lys1718Thr) | |
| 5 | g.37049126A>G | CA359508716 | NIPBL | c.6779A>G (p.Lys2260Arg) c.1-15452A>G (n.1-15452A>G) c.6035A>G (p.Lys2012Arg) c.6581A>G (p.Lys2194Arg) c.6398A>G (p.Lys2133Arg) c.6119A>G (p.Lys2040Arg) c.5162A>G (p.Lys1721Arg) c.5153A>G (p.Lys1718Arg) | |
| 5 | g.37049126A>T | CA359508717 | NIPBL | c.6779A>T (p.Lys2260Ile) c.1-15452A>T (n.1-15452A>T) c.6035A>T (p.Lys2012Ile) c.6581A>T (p.Lys2194Ile) c.6398A>T (p.Lys2133Ile) c.6119A>T (p.Lys2040Ile) c.5162A>T (p.Lys1721Ile) c.5153A>T (p.Lys1718Ile) | |
| 5 | g.37049127A>C | CA359508718 | NIPBL | c.6780A>C (p.Lys2260Asn) c.1-15451A>C (n.1-15451A>C) c.6036A>C (p.Lys2012Asn) c.6582A>C (p.Lys2194Asn) c.6399A>C (p.Lys2133Asn) c.6120A>C (p.Lys2040Asn) c.5163A>C (p.Lys1721Asn) c.5154A>C (p.Lys1718Asn) | |
| 5 | g.37049127A>G | CA443907758 | NIPBL | c.6780A>G (p.Lys2260=) c.1-15451A>G (n.1-15451A>G) c.6036A>G (p.Lys2012=) c.6582A>G (p.Lys2194=) c.6399A>G (p.Lys2133=) c.6120A>G (p.Lys2040=) c.5163A>G (p.Lys1721=) c.5154A>G (p.Lys1718=) | |
| 5 | g.37049127A>T | CA359508719 | NIPBL | c.6780A>T (p.Lys2260Asn) c.1-15451A>T (n.1-15451A>T) c.6036A>T (p.Lys2012Asn) c.6582A>T (p.Lys2194Asn) c.6399A>T (p.Lys2133Asn) c.6120A>T (p.Lys2040Asn) c.5163A>T (p.Lys1721Asn) c.5154A>T (p.Lys1718Asn) | |
| 5 | g.37049128C>A | CA359508722 | NIPBL | c.6781C>A (p.Gln2261Lys) c.1-15450C>A (n.1-15450C>A) c.6037C>A (p.Gln2013Lys) c.6583C>A (p.Gln2195Lys) c.6400C>A (p.Gln2134Lys) c.6121C>A (p.Gln2041Lys) c.5164C>A (p.Gln1722Lys) c.5155C>A (p.Gln1719Lys) | |
| 5 | g.37049128C>G | CA359508720 | NIPBL | c.6781C>G (p.Gln2261Glu) c.1-15450C>G (n.1-15450C>G) c.6037C>G (p.Gln2013Glu) c.6583C>G (p.Gln2195Glu) c.6400C>G (p.Gln2134Glu) c.6121C>G (p.Gln2041Glu) c.5164C>G (p.Gln1722Glu) c.5155C>G (p.Gln1719Glu) | |
| 5 | g.37049128C>T | CA359508721 | NIPBL | c.6781C>T (p.Gln2261Ter) c.1-15450C>T (n.1-15450C>T) c.6037C>T (p.Gln2013Ter) c.6583C>T (p.Gln2195Ter) c.6400C>T (p.Gln2134Ter) c.6121C>T (p.Gln2041Ter) c.5164C>T (p.Gln1722Ter) c.5155C>T (p.Gln1719Ter) | |
| 5 | g.37049129A>C | CA359508723 | NIPBL | c.6782A>C (p.Gln2261Pro) c.1-15449A>C (n.1-15449A>C) c.6038A>C (p.Gln2013Pro) c.6584A>C (p.Gln2195Pro) c.6401A>C (p.Gln2134Pro) c.6122A>C (p.Gln2041Pro) c.5165A>C (p.Gln1722Pro) c.5156A>C (p.Gln1719Pro) | |
| 5 | g.37049129A>G | CA359508724 | NIPBL | c.6782A>G (p.Gln2261Arg) c.1-15449A>G (n.1-15449A>G) c.6038A>G (p.Gln2013Arg) c.6584A>G (p.Gln2195Arg) c.6401A>G (p.Gln2134Arg) c.6122A>G (p.Gln2041Arg) c.5165A>G (p.Gln1722Arg) c.5156A>G (p.Gln1719Arg) | |
| 5 | g.37049129A>T | CA359508725 | NIPBL | c.6782A>T (p.Gln2261Leu) c.1-15449A>T (n.1-15449A>T) c.6038A>T (p.Gln2013Leu) c.6584A>T (p.Gln2195Leu) c.6401A>T (p.Gln2134Leu) c.6122A>T (p.Gln2041Leu) c.5165A>T (p.Gln1722Leu) c.5156A>T (p.Gln1719Leu) | |
| 5 | g.37049130G>A | CA443907782 | NIPBL | c.6783G>A (p.Gln2261=) c.1-15448G>A (n.1-15448G>A) c.6039G>A (p.Gln2013=) c.6585G>A (p.Gln2195=) c.6402G>A (p.Gln2134=) c.6123G>A (p.Gln2041=) c.5166G>A (p.Gln1722=) c.5157G>A (p.Gln1719=) | |
| 5 | g.37049130G>C | CA359508726 | NIPBL | c.6783G>C (p.Gln2261His) c.1-15448G>C (n.1-15448G>C) c.6039G>C (p.Gln2013His) c.6585G>C (p.Gln2195His) c.6402G>C (p.Gln2134His) c.6123G>C (p.Gln2041His) c.5166G>C (p.Gln1722His) c.5157G>C (p.Gln1719His) | |
| 5 | g.37049130G>T | CA359508727 | NIPBL | c.6783G>T (p.Gln2261His) c.1-15448G>T (n.1-15448G>T) c.6039G>T (p.Gln2013His) c.6585G>T (p.Gln2195His) c.6402G>T (p.Gln2134His) c.6123G>T (p.Gln2041His) c.5166G>T (p.Gln1722His) c.5157G>T (p.Gln1719His) | |
| 5 | g.37049131del | CA645546380 | NIPBL | c.6784del (p.Glu2262LysfsTer3) c.1-15447del (n.1-15447del) c.6040del (p.Glu2014LysfsTer3) c.6586del (p.Glu2196LysfsTer3) c.6403del (p.Glu2135LysfsTer3) c.6124del (p.Glu2042LysfsTer3) c.5167del (p.Glu1723LysfsTer3) c.5158del (p.Glu1720LysfsTer3) | COSMIC COSMIC |