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.37052436C>A | CA359511369 | NIPBL | c.7133C>A (p.Pro2378His) n.1015C>A c.1-12142C>A (n.1-12142C>A) c.6389C>A (p.Pro2130His) c.6935C>A (p.Pro2312His) c.6752C>A (p.Pro2251His) c.6473C>A (p.Pro2158His) c.5516C>A (p.Pro1839His) c.5507C>A (p.Pro1836His) | |
| 5 | g.37052436C= | CA1539572216 | NIPBL | c.7133C= (p.Pro2378=) n.1015C= c.1-12142C= (n.1-12142C=) c.6389C= (p.Pro2130=) c.6935C= (p.Pro2312=) c.6752C= (p.Pro2251=) c.6473C= (p.Pro2158=) c.5516C= (p.Pro1839=) c.5507C= (p.Pro1836=) | |
| 5 | g.37052436C>G | CA359511367 | NIPBL | c.7133C>G (p.Pro2378Arg) n.1015C>G c.1-12142C>G (n.1-12142C>G) c.6389C>G (p.Pro2130Arg) c.6935C>G (p.Pro2312Arg) c.6752C>G (p.Pro2251Arg) c.6473C>G (p.Pro2158Arg) c.5516C>G (p.Pro1839Arg) c.5507C>G (p.Pro1836Arg) | |
| 5 | g.37052436C>T | CA359511365 | NIPBL | c.7133C>T (p.Pro2378Leu) n.1015C>T c.1-12142C>T (n.1-12142C>T) c.6389C>T (p.Pro2130Leu) c.6935C>T (p.Pro2312Leu) c.6752C>T (p.Pro2251Leu) c.6473C>T (p.Pro2158Leu) c.5516C>T (p.Pro1839Leu) c.5507C>T (p.Pro1836Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37052437T>A | CA443911601 | NIPBL | c.7134T>A (p.Pro2378=) n.1016T>A c.1-12141T>A (n.1-12141T>A) c.6390T>A (p.Pro2130=) c.6936T>A (p.Pro2312=) c.6753T>A (p.Pro2251=) c.6474T>A (p.Pro2158=) c.5517T>A (p.Pro1839=) c.5508T>A (p.Pro1836=) | |
| 5 | g.37052437T>C | CA443911604 | NIPBL | c.7134T>C (p.Pro2378=) n.1016T>C c.1-12141T>C (n.1-12141T>C) c.6390T>C (p.Pro2130=) c.6936T>C (p.Pro2312=) c.6753T>C (p.Pro2251=) c.6474T>C (p.Pro2158=) c.5517T>C (p.Pro1839=) c.5508T>C (p.Pro1836=) | dbSNP gnomAD v4 |
| 5 | g.37052437T>G | CA443911606 | NIPBL | c.7134T>G (p.Pro2378=) n.1016T>G c.1-12141T>G (n.1-12141T>G) c.6390T>G (p.Pro2130=) c.6936T>G (p.Pro2312=) c.6753T>G (p.Pro2251=) c.6474T>G (p.Pro2158=) c.5517T>G (p.Pro1839=) c.5508T>G (p.Pro1836=) | |
| 5 | g.37052437T= | CA1539572219 | NIPBL | c.7134T= (p.Pro2378=) n.1016T= c.1-12141T= (n.1-12141T=) c.6390T= (p.Pro2130=) c.6936T= (p.Pro2312=) c.6753T= (p.Pro2251=) c.6474T= (p.Pro2158=) c.5517T= (p.Pro1839=) c.5508T= (p.Pro1836=) | |
| 5 | g.37052438G>A | CA359511377 | NIPBL | c.7135G>A (p.Val2379Ile) n.1017G>A c.1-12140G>A (n.1-12140G>A) c.6391G>A (p.Val2131Ile) c.6937G>A (p.Val2313Ile) c.6754G>A (p.Val2252Ile) c.6475G>A (p.Val2159Ile) c.5518G>A (p.Val1840Ile) c.5509G>A (p.Val1837Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37052438G>C | CA359511372 | NIPBL | c.7135G>C (p.Val2379Leu) n.1017G>C c.1-12140G>C (n.1-12140G>C) c.6391G>C (p.Val2131Leu) c.6937G>C (p.Val2313Leu) c.6754G>C (p.Val2252Leu) c.6475G>C (p.Val2159Leu) c.5518G>C (p.Val1840Leu) c.5509G>C (p.Val1837Leu) | |
| 5 | g.37052438G= | CA1539572229 | NIPBL | c.7135G= (p.Val2379=) n.1017G= c.1-12140G= (n.1-12140G=) c.6391G= (p.Val2131=) c.6937G= (p.Val2313=) c.6754G= (p.Val2252=) c.6475G= (p.Val2159=) c.5518G= (p.Val1840=) c.5509G= (p.Val1837=) | |
| 5 | g.37052438G>T | CA359511375 | NIPBL | c.7135G>T (p.Val2379Leu) n.1017G>T c.1-12140G>T (n.1-12140G>T) c.6391G>T (p.Val2131Leu) c.6937G>T (p.Val2313Leu) c.6754G>T (p.Val2252Leu) c.6475G>T (p.Val2159Leu) c.5518G>T (p.Val1840Leu) c.5509G>T (p.Val1837Leu) | |
| 5 | g.37052439T>A | CA359511380 | NIPBL | c.7136T>A (p.Val2379Glu) n.1018T>A c.1-12139T>A (n.1-12139T>A) c.6392T>A (p.Val2131Glu) c.6938T>A (p.Val2313Glu) c.6755T>A (p.Val2252Glu) c.6476T>A (p.Val2159Glu) c.5519T>A (p.Val1840Glu) c.5510T>A (p.Val1837Glu) | |
| 5 | g.37052439T>C | CA359511382 | NIPBL | c.7136T>C (p.Val2379Ala) n.1018T>C c.1-12139T>C (n.1-12139T>C) c.6392T>C (p.Val2131Ala) c.6938T>C (p.Val2313Ala) c.6755T>C (p.Val2252Ala) c.6476T>C (p.Val2159Ala) c.5519T>C (p.Val1840Ala) c.5510T>C (p.Val1837Ala) | |
| 5 | g.37052439T>G | CA359511384 | NIPBL | c.7136T>G (p.Val2379Gly) n.1018T>G c.1-12139T>G (n.1-12139T>G) c.6392T>G (p.Val2131Gly) c.6938T>G (p.Val2313Gly) c.6755T>G (p.Val2252Gly) c.6476T>G (p.Val2159Gly) c.5519T>G (p.Val1840Gly) c.5510T>G (p.Val1837Gly) | |
| 5 | g.37052440A>C | CA443911615 | NIPBL | c.7137A>C (p.Val2379=) n.1019A>C c.1-12138A>C (n.1-12138A>C) c.6393A>C (p.Val2131=) c.6939A>C (p.Val2313=) c.6756A>C (p.Val2252=) c.6477A>C (p.Val2159=) c.5520A>C (p.Val1840=) c.5511A>C (p.Val1837=) | |
| 5 | g.37052440A>G | CA443911617 | NIPBL | c.7137A>G (p.Val2379=) n.1019A>G c.1-12138A>G (n.1-12138A>G) c.6393A>G (p.Val2131=) c.6939A>G (p.Val2313=) c.6756A>G (p.Val2252=) c.6477A>G (p.Val2159=) c.5520A>G (p.Val1840=) c.5511A>G (p.Val1837=) | gnomAD v4 |
| 5 | g.37052440A>T | CA443911620 | NIPBL | c.7137A>T (p.Val2379=) n.1019A>T c.1-12138A>T (n.1-12138A>T) c.6393A>T (p.Val2131=) c.6939A>T (p.Val2313=) c.6756A>T (p.Val2252=) c.6477A>T (p.Val2159=) c.5520A>T (p.Val1840=) c.5511A>T (p.Val1837=) | |
| 5 | g.37052441A>C | CA443911622 | NIPBL | c.7138A>C (p.Arg2380=) n.1020A>C c.1-12137A>C (n.1-12137A>C) c.6394A>C (p.Arg2132=) c.6940A>C (p.Arg2314=) c.6757A>C (p.Arg2253=) c.6478A>C (p.Arg2160=) c.5521A>C (p.Arg1841=) c.5512A>C (p.Arg1838=) | |
| 5 | g.37052441A>G | CA359511385 | NIPBL | c.7138A>G (p.Arg2380Gly) n.1020A>G c.1-12137A>G (n.1-12137A>G) c.6394A>G (p.Arg2132Gly) c.6940A>G (p.Arg2314Gly) c.6757A>G (p.Arg2253Gly) c.6478A>G (p.Arg2160Gly) c.5521A>G (p.Arg1841Gly) c.5512A>G (p.Arg1838Gly) | |
| 5 | g.37052441A>T | CA359511386 | NIPBL | c.7138A>T (p.Arg2380Trp) n.1020A>T c.1-12137A>T (n.1-12137A>T) c.6394A>T (p.Arg2132Trp) c.6940A>T (p.Arg2314Trp) c.6757A>T (p.Arg2253Trp) c.6478A>T (p.Arg2160Trp) c.5521A>T (p.Arg1841Trp) c.5512A>T (p.Arg1838Trp) | |
| 5 | g.37052442G>A | CA359511387 | NIPBL | c.7139G>A (p.Arg2380Lys) n.1021G>A c.1-12136G>A (n.1-12136G>A) c.6395G>A (p.Arg2132Lys) c.6941G>A (p.Arg2314Lys) c.6758G>A (p.Arg2253Lys) c.6479G>A (p.Arg2160Lys) c.5522G>A (p.Arg1841Lys) c.5513G>A (p.Arg1838Lys) | |
| 5 | g.37052442G>C | CA359511388 | NIPBL | c.7139G>C (p.Arg2380Thr) n.1021G>C c.1-12136G>C (n.1-12136G>C) c.6395G>C (p.Arg2132Thr) c.6941G>C (p.Arg2314Thr) c.6758G>C (p.Arg2253Thr) c.6479G>C (p.Arg2160Thr) c.5522G>C (p.Arg1841Thr) c.5513G>C (p.Arg1838Thr) | |
| 5 | g.37052442G>T | CA359511389 | NIPBL | c.7139G>T (p.Arg2380Met) n.1021G>T c.1-12136G>T (n.1-12136G>T) c.6395G>T (p.Arg2132Met) c.6941G>T (p.Arg2314Met) c.6758G>T (p.Arg2253Met) c.6479G>T (p.Arg2160Met) c.5522G>T (p.Arg1841Met) c.5513G>T (p.Arg1838Met) | |
| 5 | g.37052443G>A | CA443911632 | NIPBL | c.7140G>A (p.Arg2380=) n.1022G>A c.1-12135G>A (n.1-12135G>A) c.6396G>A (p.Arg2132=) c.6942G>A (p.Arg2314=) c.6759G>A (p.Arg2253=) c.6480G>A (p.Arg2160=) c.5523G>A (p.Arg1841=) c.5514G>A (p.Arg1838=) | |
| 5 | g.37052443G>C | CA359511390 | NIPBL | c.7140G>C (p.Arg2380Ser) n.1022G>C c.1-12135G>C (n.1-12135G>C) c.6396G>C (p.Arg2132Ser) c.6942G>C (p.Arg2314Ser) c.6759G>C (p.Arg2253Ser) c.6480G>C (p.Arg2160Ser) c.5523G>C (p.Arg1841Ser) c.5514G>C (p.Arg1838Ser) | |
| 5 | g.37052443G>T | CA359511391 | NIPBL | c.7140G>T (p.Arg2380Ser) n.1022G>T c.1-12135G>T (n.1-12135G>T) c.6396G>T (p.Arg2132Ser) c.6942G>T (p.Arg2314Ser) c.6759G>T (p.Arg2253Ser) c.6480G>T (p.Arg2160Ser) c.5523G>T (p.Arg1841Ser) c.5514G>T (p.Arg1838Ser) | |
| 5 | g.37052444G>A | CA272289 | NIPBL | c.7141G>A (p.Gly2381Ser) n.1023G>A c.1-12134G>A (n.1-12134G>A) c.6397G>A (p.Gly2133Ser) c.6943G>A (p.Gly2315Ser) c.6760G>A (p.Gly2254Ser) c.6481G>A (p.Gly2161Ser) c.5524G>A (p.Gly1842Ser) c.5515G>A (p.Gly1839Ser) | ClinVar dbSNP |
| 5 | g.37052444G>C | CA359511395 | NIPBL | c.7141G>C (p.Gly2381Arg) n.1023G>C c.1-12134G>C (n.1-12134G>C) c.6397G>C (p.Gly2133Arg) c.6943G>C (p.Gly2315Arg) c.6760G>C (p.Gly2254Arg) c.6481G>C (p.Gly2161Arg) c.5524G>C (p.Gly1842Arg) c.5515G>C (p.Gly1839Arg) | ClinVar |
| 5 | g.37052444G= | CA1539572234 | NIPBL | c.7141G= (p.Gly2381=) n.1023G= c.1-12134G= (n.1-12134G=) c.6397G= (p.Gly2133=) c.6943G= (p.Gly2315=) c.6760G= (p.Gly2254=) c.6481G= (p.Gly2161=) c.5524G= (p.Gly1842=) c.5515G= (p.Gly1839=) | |
| 5 | g.37052444G>T | CA359511393 | NIPBL | c.7141G>T (p.Gly2381Cys) n.1023G>T c.1-12134G>T (n.1-12134G>T) c.6397G>T (p.Gly2133Cys) c.6943G>T (p.Gly2315Cys) c.6760G>T (p.Gly2254Cys) c.6481G>T (p.Gly2161Cys) c.5524G>T (p.Gly1842Cys) c.5515G>T (p.Gly1839Cys) | |
| 5 | g.37052445G>A | CA359511397 | NIPBL | c.7142G>A (p.Gly2381Asp) n.1024G>A c.1-12133G>A (n.1-12133G>A) c.6398G>A (p.Gly2133Asp) c.6944G>A (p.Gly2315Asp) c.6761G>A (p.Gly2254Asp) c.6482G>A (p.Gly2161Asp) c.5525G>A (p.Gly1842Asp) c.5516G>A (p.Gly1839Asp) | |
| 5 | g.37052445G>C | CA359511398 | NIPBL | c.7142G>C (p.Gly2381Ala) n.1024G>C c.1-12133G>C (n.1-12133G>C) c.6398G>C (p.Gly2133Ala) c.6944G>C (p.Gly2315Ala) c.6761G>C (p.Gly2254Ala) c.6482G>C (p.Gly2161Ala) c.5525G>C (p.Gly1842Ala) c.5516G>C (p.Gly1839Ala) | |
| 5 | g.37052445G>T | CA359511401 | NIPBL | c.7142G>T (p.Gly2381Val) n.1024G>T c.1-12133G>T (n.1-12133G>T) c.6398G>T (p.Gly2133Val) c.6944G>T (p.Gly2315Val) c.6761G>T (p.Gly2254Val) c.6482G>T (p.Gly2161Val) c.5525G>T (p.Gly1842Val) c.5516G>T (p.Gly1839Val) | |
| 5 | g.37052446T>A | CA443911644 | NIPBL | c.7143T>A (p.Gly2381=) n.1025T>A c.1-12132T>A (n.1-12132T>A) c.6399T>A (p.Gly2133=) c.6945T>A (p.Gly2315=) c.6762T>A (p.Gly2254=) c.6483T>A (p.Gly2161=) c.5526T>A (p.Gly1842=) c.5517T>A (p.Gly1839=) | |
| 5 | g.37052446T>C | CA443911646 | NIPBL | c.7143T>C (p.Gly2381=) n.1025T>C c.1-12132T>C (n.1-12132T>C) c.6399T>C (p.Gly2133=) c.6945T>C (p.Gly2315=) c.6762T>C (p.Gly2254=) c.6483T>C (p.Gly2161=) c.5526T>C (p.Gly1842=) c.5517T>C (p.Gly1839=) | |
| 5 | g.37052446T>G | CA443911648 | NIPBL | c.7143T>G (p.Gly2381=) n.1025T>G c.1-12132T>G (n.1-12132T>G) c.6399T>G (p.Gly2133=) c.6945T>G (p.Gly2315=) c.6762T>G (p.Gly2254=) c.6483T>G (p.Gly2161=) c.5526T>G (p.Gly1842=) c.5517T>G (p.Gly1839=) | |
| 5 | g.37052447T>A | CA359511412 | NIPBL | c.7144T>A (p.Phe2382Ile) n.1026T>A c.1-12131T>A (n.1-12131T>A) c.6400T>A (p.Phe2134Ile) c.6946T>A (p.Phe2316Ile) c.6763T>A (p.Phe2255Ile) c.6484T>A (p.Phe2162Ile) c.5527T>A (p.Phe1843Ile) c.5518T>A (p.Phe1840Ile) | |
| 5 | g.37052447T>C | CA359511416 | NIPBL | c.7144T>C (p.Phe2382Leu) n.1026T>C c.1-12131T>C (n.1-12131T>C) c.6400T>C (p.Phe2134Leu) c.6946T>C (p.Phe2316Leu) c.6763T>C (p.Phe2255Leu) c.6484T>C (p.Phe2162Leu) c.5527T>C (p.Phe1843Leu) c.5518T>C (p.Phe1840Leu) | |
| 5 | g.37052447T>G | CA359511418 | NIPBL | c.7144T>G (p.Phe2382Val) n.1026T>G c.1-12131T>G (n.1-12131T>G) c.6400T>G (p.Phe2134Val) c.6946T>G (p.Phe2316Val) c.6763T>G (p.Phe2255Val) c.6484T>G (p.Phe2162Val) c.5527T>G (p.Phe1843Val) c.5518T>G (p.Phe1840Val) | |
| 5 | g.37052448T>A | CA359511419 | NIPBL | c.7145T>A (p.Phe2382Tyr) n.1027T>A c.1-12130T>A (n.1-12130T>A) c.6401T>A (p.Phe2134Tyr) c.6947T>A (p.Phe2316Tyr) c.6764T>A (p.Phe2255Tyr) c.6485T>A (p.Phe2162Tyr) c.5528T>A (p.Phe1843Tyr) c.5519T>A (p.Phe1840Tyr) | |
| 5 | g.37052448T>C | CA359511422 | NIPBL | c.7145T>C (p.Phe2382Ser) n.1027T>C c.1-12130T>C (n.1-12130T>C) c.6401T>C (p.Phe2134Ser) c.6947T>C (p.Phe2316Ser) c.6764T>C (p.Phe2255Ser) c.6485T>C (p.Phe2162Ser) c.5528T>C (p.Phe1843Ser) c.5519T>C (p.Phe1840Ser) | |
| 5 | g.37052448T>G | CA359511426 | NIPBL | c.7145T>G (p.Phe2382Cys) n.1027T>G c.1-12130T>G (n.1-12130T>G) c.6401T>G (p.Phe2134Cys) c.6947T>G (p.Phe2316Cys) c.6764T>G (p.Phe2255Cys) c.6485T>G (p.Phe2162Cys) c.5528T>G (p.Phe1843Cys) c.5519T>G (p.Phe1840Cys) | |
| 5 | g.37052449C>A | CA359511428 | NIPBL | c.7146C>A (p.Phe2382Leu) n.1028C>A c.1-12129C>A (n.1-12129C>A) c.6402C>A (p.Phe2134Leu) c.6948C>A (p.Phe2316Leu) c.6765C>A (p.Phe2255Leu) c.6486C>A (p.Phe2162Leu) c.5529C>A (p.Phe1843Leu) c.5520C>A (p.Phe1840Leu) | |
| 5 | g.37052449C>G | CA359511430 | NIPBL | c.7146C>G (p.Phe2382Leu) n.1028C>G c.1-12129C>G (n.1-12129C>G) c.6402C>G (p.Phe2134Leu) c.6948C>G (p.Phe2316Leu) c.6765C>G (p.Phe2255Leu) c.6486C>G (p.Phe2162Leu) c.5529C>G (p.Phe1843Leu) c.5520C>G (p.Phe1840Leu) | |
| 5 | g.37052449C>T | CA443911661 | NIPBL | c.7146C>T (p.Phe2382=) n.1028C>T c.1-12129C>T (n.1-12129C>T) c.6402C>T (p.Phe2134=) c.6948C>T (p.Phe2316=) c.6765C>T (p.Phe2255=) c.6486C>T (p.Phe2162=) c.5529C>T (p.Phe1843=) c.5520C>T (p.Phe1840=) | COSMIC |
| 5 | g.37052450A>C | CA443911666 | NIPBL | c.7147A>C (p.Arg2383=) n.1029A>C c.1-12128A>C (n.1-12128A>C) c.6403A>C (p.Arg2135=) c.6949A>C (p.Arg2317=) c.6766A>C (p.Arg2256=) c.6487A>C (p.Arg2163=) c.5530A>C (p.Arg1844=) c.5521A>C (p.Arg1841=) | |
| 5 | g.37052450A>G | CA359511433 | NIPBL | c.7147A>G (p.Arg2383Gly) n.1029A>G c.1-12128A>G (n.1-12128A>G) c.6403A>G (p.Arg2135Gly) c.6949A>G (p.Arg2317Gly) c.6766A>G (p.Arg2256Gly) c.6487A>G (p.Arg2163Gly) c.5530A>G (p.Arg1844Gly) c.5521A>G (p.Arg1841Gly) | |
| 5 | g.37052450A>T | CA359511434 | NIPBL | c.7147A>T (p.Arg2383Ter) n.1029A>T c.1-12128A>T (n.1-12128A>T) c.6403A>T (p.Arg2135Ter) c.6949A>T (p.Arg2317Ter) c.6766A>T (p.Arg2256Ter) c.6487A>T (p.Arg2163Ter) c.5530A>T (p.Arg1844Ter) c.5521A>T (p.Arg1841Ter) | |
| 5 | g.37052454_37052458del | CA2695204433 | NIPBL | c.7151_7155del (p.Gln2384ArgfsTer4) n.1033_1037del c.1-12124_1-12120del (n.1-12124_1-12120del) c.6407_6411del (p.Gln2136ArgfsTer4) c.6953_6957del (p.Gln2318ArgfsTer4) c.6770_6774del (p.Gln2257ArgfsTer4) c.6491_6495del (p.Gln2164ArgfsTer4) c.5534_5538del (p.Gln1845ArgfsTer4) c.5525_5529del (p.Gln1842ArgfsTer4) |