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.37000413G>A | CA359517386 | NIPBL | c.3345G>A (p.Trp1115Ter) n.696G>A c.1-64165G>A (n.1-64165G>A) c.2601G>A (p.Trp867Ter) c.3305-404G>A (n.3305-404G>A) c.3122-404G>A (n.3122-404G>A) c.2685G>A (p.Trp895Ter) c.1728G>A (p.Trp576Ter) c.1719G>A (p.Trp573Ter) | |
| 5 | g.37000413G>C | CA359517387 | NIPBL | c.3345G>C (p.Trp1115Cys) n.696G>C c.1-64165G>C (n.1-64165G>C) c.2601G>C (p.Trp867Cys) c.3305-404G>C (n.3305-404G>C) c.3122-404G>C (n.3122-404G>C) c.2685G>C (p.Trp895Cys) c.1728G>C (p.Trp576Cys) c.1719G>C (p.Trp573Cys) | |
| 5 | g.37000413G>T | CA359517390 | NIPBL | c.3345G>T (p.Trp1115Cys) n.696G>T c.1-64165G>T (n.1-64165G>T) c.2601G>T (p.Trp867Cys) c.3305-404G>T (n.3305-404G>T) c.3122-404G>T (n.3122-404G>T) c.2685G>T (p.Trp895Cys) c.1728G>T (p.Trp576Cys) c.1719G>T (p.Trp573Cys) | |
| 5 | g.37000414G>A | CA359517398 | NIPBL | c.3346G>A (p.Glu1116Lys) n.697G>A c.1-64164G>A (n.1-64164G>A) c.2602G>A (p.Glu868Lys) c.3305-403G>A (n.3305-403G>A) c.3122-403G>A (n.3122-403G>A) c.2686G>A (p.Glu896Lys) c.1729G>A (p.Glu577Lys) c.1720G>A (p.Glu574Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000414G>C | CA359517411 | NIPBL | c.3346G>C (p.Glu1116Gln) n.697G>C c.1-64164G>C (n.1-64164G>C) c.2602G>C (p.Glu868Gln) c.3305-403G>C (n.3305-403G>C) c.3122-403G>C (n.3122-403G>C) c.2686G>C (p.Glu896Gln) c.1729G>C (p.Glu577Gln) c.1720G>C (p.Glu574Gln) | gnomAD v4 |
| 5 | g.37000414G= | CA1539600781 | NIPBL | c.3346G= (p.Glu1116=) n.697G= c.1-64164G= (n.1-64164G=) c.2602G= (p.Glu868=) c.3305-403G= (n.3305-403G=) c.3122-403G= (n.3122-403G=) c.2686G= (p.Glu896=) c.1729G= (p.Glu577=) c.1720G= (p.Glu574=) | |
| 5 | g.37000414G>T | CA359517415 | NIPBL | c.3346G>T (p.Glu1116Ter) n.697G>T c.1-64164G>T (n.1-64164G>T) c.2602G>T (p.Glu868Ter) c.3305-403G>T (n.3305-403G>T) c.3122-403G>T (n.3122-403G>T) c.2686G>T (p.Glu896Ter) c.1729G>T (p.Glu577Ter) c.1720G>T (p.Glu574Ter) | |
| 5 | g.37000415A= | CA1539600791 | NIPBL | c.3347A= (p.Glu1116=) n.698A= c.1-64163A= (n.1-64163A=) c.2603A= (p.Glu868=) c.3305-402A= (n.3305-402A=) c.3122-402A= (n.3122-402A=) c.2687A= (p.Glu896=) c.1730A= (p.Glu577=) c.1721A= (p.Glu574=) | |
| 5 | g.37000415A>C | CA359517435 | NIPBL | c.3347A>C (p.Glu1116Ala) n.698A>C c.1-64163A>C (n.1-64163A>C) c.2603A>C (p.Glu868Ala) c.3305-402A>C (n.3305-402A>C) c.3122-402A>C (n.3122-402A>C) c.2687A>C (p.Glu896Ala) c.1730A>C (p.Glu577Ala) c.1721A>C (p.Glu574Ala) | |
| 5 | g.37000415A>G | CA3236323 | NIPBL | c.3347A>G (p.Glu1116Gly) n.698A>G c.1-64163A>G (n.1-64163A>G) c.2603A>G (p.Glu868Gly) c.3305-402A>G (n.3305-402A>G) c.3122-402A>G (n.3122-402A>G) c.2687A>G (p.Glu896Gly) c.1730A>G (p.Glu577Gly) c.1721A>G (p.Glu574Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000415A>T | CA359517422 | NIPBL | c.3347A>T (p.Glu1116Val) n.698A>T c.1-64163A>T (n.1-64163A>T) c.2603A>T (p.Glu868Val) c.3305-402A>T (n.3305-402A>T) c.3122-402A>T (n.3122-402A>T) c.2687A>T (p.Glu896Val) c.1730A>T (p.Glu577Val) c.1721A>T (p.Glu574Val) | |
| 5 | g.37000416A= | CA1539600795 | NIPBL | c.3348A= (p.Glu1116=) n.699A= c.1-64162A= (n.1-64162A=) c.2604A= (p.Glu868=) c.3305-401A= (n.3305-401A=) c.3122-401A= (n.3122-401A=) c.2688A= (p.Glu896=) c.1731A= (p.Glu577=) c.1722A= (p.Glu574=) | |
| 5 | g.37000416A>C | CA359517442 | NIPBL | c.3348A>C (p.Glu1116Asp) n.699A>C c.1-64162A>C (n.1-64162A>C) c.2604A>C (p.Glu868Asp) c.3305-401A>C (n.3305-401A>C) c.3122-401A>C (n.3122-401A>C) c.2688A>C (p.Glu896Asp) c.1731A>C (p.Glu577Asp) c.1722A>C (p.Glu574Asp) | |
| 5 | g.37000416A>G | CA443904225 | NIPBL | c.3348A>G (p.Glu1116=) n.699A>G c.1-64162A>G (n.1-64162A>G) c.2604A>G (p.Glu868=) c.3305-401A>G (n.3305-401A>G) c.3122-401A>G (n.3122-401A>G) c.2688A>G (p.Glu896=) c.1731A>G (p.Glu577=) c.1722A>G (p.Glu574=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37000416A>T | CA359517446 | NIPBL | c.3348A>T (p.Glu1116Asp) n.699A>T c.1-64162A>T (n.1-64162A>T) c.2604A>T (p.Glu868Asp) c.3305-401A>T (n.3305-401A>T) c.3122-401A>T (n.3122-401A>T) c.2688A>T (p.Glu896Asp) c.1731A>T (p.Glu577Asp) c.1722A>T (p.Glu574Asp) | |
| 5 | g.37000417T>A | CA359517451 | NIPBL | c.3349T>A (p.Tyr1117Asn) n.700T>A c.1-64161T>A (n.1-64161T>A) c.2605T>A (p.Tyr869Asn) c.3305-400T>A (n.3305-400T>A) c.3122-400T>A (n.3122-400T>A) c.2689T>A (p.Tyr897Asn) c.1732T>A (p.Tyr578Asn) c.1723T>A (p.Tyr575Asn) | |
| 5 | g.37000417T>C | CA359517452 | NIPBL | c.3349T>C (p.Tyr1117His) n.700T>C c.1-64161T>C (n.1-64161T>C) c.2605T>C (p.Tyr869His) c.3305-400T>C (n.3305-400T>C) c.3122-400T>C (n.3122-400T>C) c.2689T>C (p.Tyr897His) c.1732T>C (p.Tyr578His) c.1723T>C (p.Tyr575His) | |
| 5 | g.37000417T>G | CA359517453 | NIPBL | c.3349T>G (p.Tyr1117Asp) n.700T>G c.1-64161T>G (n.1-64161T>G) c.2605T>G (p.Tyr869Asp) c.3305-400T>G (n.3305-400T>G) c.3122-400T>G (n.3122-400T>G) c.2689T>G (p.Tyr897Asp) c.1732T>G (p.Tyr578Asp) c.1723T>G (p.Tyr575Asp) | |
| 5 | g.37000418A= | CA1539600801 | NIPBL | c.3350A= (p.Tyr1117=) n.701A= c.1-64160A= (n.1-64160A=) c.2606A= (p.Tyr869=) c.3305-399A= (n.3305-399A=) c.3122-399A= (n.3122-399A=) c.2690A= (p.Tyr897=) c.1733A= (p.Tyr578=) c.1724A= (p.Tyr575=) | |
| 5 | g.37000418A>C | CA359517454 | NIPBL | c.3350A>C (p.Tyr1117Ser) n.701A>C c.1-64160A>C (n.1-64160A>C) c.2606A>C (p.Tyr869Ser) c.3305-399A>C (n.3305-399A>C) c.3122-399A>C (n.3122-399A>C) c.2690A>C (p.Tyr897Ser) c.1733A>C (p.Tyr578Ser) c.1724A>C (p.Tyr575Ser) | |
| 5 | g.37000418A>G | CA359517455 | NIPBL | c.3350A>G (p.Tyr1117Cys) n.701A>G c.1-64160A>G (n.1-64160A>G) c.2606A>G (p.Tyr869Cys) c.3305-399A>G (n.3305-399A>G) c.3122-399A>G (n.3122-399A>G) c.2690A>G (p.Tyr897Cys) c.1733A>G (p.Tyr578Cys) c.1724A>G (p.Tyr575Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000418A>T | CA359517458 | NIPBL | c.3350A>T (p.Tyr1117Phe) n.701A>T c.1-64160A>T (n.1-64160A>T) c.2606A>T (p.Tyr869Phe) c.3305-399A>T (n.3305-399A>T) c.3122-399A>T (n.3122-399A>T) c.2690A>T (p.Tyr897Phe) c.1733A>T (p.Tyr578Phe) c.1724A>T (p.Tyr575Phe) | |
| 5 | g.37000419T>A | CA359517462 | NIPBL | c.3351T>A (p.Tyr1117Ter) n.702T>A c.1-64159T>A (n.1-64159T>A) c.2607T>A (p.Tyr869Ter) c.3305-398T>A (n.3305-398T>A) c.3122-398T>A (n.3122-398T>A) c.2691T>A (p.Tyr897Ter) c.1734T>A (p.Tyr578Ter) c.1725T>A (p.Tyr575Ter) | |
| 5 | g.37000419T>C | CA443904228 | NIPBL | c.3351T>C (p.Tyr1117=) n.702T>C c.1-64159T>C (n.1-64159T>C) c.2607T>C (p.Tyr869=) c.3305-398T>C (n.3305-398T>C) c.3122-398T>C (n.3122-398T>C) c.2691T>C (p.Tyr897=) c.1734T>C (p.Tyr578=) c.1725T>C (p.Tyr575=) | gnomAD v4 |
| 5 | g.37000419T>G | CA359517465 | NIPBL | c.3351T>G (p.Tyr1117Ter) n.702T>G c.1-64159T>G (n.1-64159T>G) c.2607T>G (p.Tyr869Ter) c.3305-398T>G (n.3305-398T>G) c.3122-398T>G (n.3122-398T>G) c.2691T>G (p.Tyr897Ter) c.1734T>G (p.Tyr578Ter) c.1725T>G (p.Tyr575Ter) | |
| 5 | g.37000420G>A | CA359517469 | NIPBL | c.3352G>A (p.Glu1118Lys) n.703G>A c.1-64158G>A (n.1-64158G>A) c.2608G>A (p.Glu870Lys) c.3305-397G>A (n.3305-397G>A) c.3122-397G>A (n.3122-397G>A) c.2692G>A (p.Glu898Lys) c.1735G>A (p.Glu579Lys) c.1726G>A (p.Glu576Lys) | |
| 5 | g.37000420G>C | CA359517470 | NIPBL | c.3352G>C (p.Glu1118Gln) n.703G>C c.1-64158G>C (n.1-64158G>C) c.2608G>C (p.Glu870Gln) c.3305-397G>C (n.3305-397G>C) c.3122-397G>C (n.3122-397G>C) c.2692G>C (p.Glu898Gln) c.1735G>C (p.Glu579Gln) c.1726G>C (p.Glu576Gln) | |
| 5 | g.37000420G>T | CA359517471 | NIPBL | c.3352G>T (p.Glu1118Ter) n.703G>T c.1-64158G>T (n.1-64158G>T) c.2608G>T (p.Glu870Ter) c.3305-397G>T (n.3305-397G>T) c.3122-397G>T (n.3122-397G>T) c.2692G>T (p.Glu898Ter) c.1735G>T (p.Glu579Ter) c.1726G>T (p.Glu576Ter) | |
| 5 | g.37000421A>C | CA359517476 | NIPBL | c.3353A>C (p.Glu1118Ala) n.704A>C c.1-64157A>C (n.1-64157A>C) c.2609A>C (p.Glu870Ala) c.3305-396A>C (n.3305-396A>C) c.3122-396A>C (n.3122-396A>C) c.2693A>C (p.Glu898Ala) c.1736A>C (p.Glu579Ala) c.1727A>C (p.Glu576Ala) | |
| 5 | g.37000421A>G | CA359517480 | NIPBL | c.3353A>G (p.Glu1118Gly) n.704A>G c.1-64157A>G (n.1-64157A>G) c.2609A>G (p.Glu870Gly) c.3305-396A>G (n.3305-396A>G) c.3122-396A>G (n.3122-396A>G) c.2693A>G (p.Glu898Gly) c.1736A>G (p.Glu579Gly) c.1727A>G (p.Glu576Gly) | |
| 5 | g.37000421A>T | CA359517472 | NIPBL | c.3353A>T (p.Glu1118Val) n.704A>T c.1-64157A>T (n.1-64157A>T) c.2609A>T (p.Glu870Val) c.3305-396A>T (n.3305-396A>T) c.3122-396A>T (n.3122-396A>T) c.2693A>T (p.Glu898Val) c.1736A>T (p.Glu579Val) c.1727A>T (p.Glu576Val) | |
| 5 | g.37000422A>C | CA359517484 | NIPBL | c.3354A>C (p.Glu1118Asp) n.705A>C c.1-64156A>C (n.1-64156A>C) c.2610A>C (p.Glu870Asp) c.3305-395A>C (n.3305-395A>C) c.3122-395A>C (n.3122-395A>C) c.2694A>C (p.Glu898Asp) c.1737A>C (p.Glu579Asp) c.1728A>C (p.Glu576Asp) | |
| 5 | g.37000422A>G | CA443904232 | NIPBL | c.3354A>G (p.Glu1118=) n.705A>G c.1-64156A>G (n.1-64156A>G) c.2610A>G (p.Glu870=) c.3305-395A>G (n.3305-395A>G) c.3122-395A>G (n.3122-395A>G) c.2694A>G (p.Glu898=) c.1737A>G (p.Glu579=) c.1728A>G (p.Glu576=) | COSMIC COSMIC |
| 5 | g.37000422A>T | CA359517485 | NIPBL | c.3354A>T (p.Glu1118Asp) n.705A>T c.1-64156A>T (n.1-64156A>T) c.2610A>T (p.Glu870Asp) c.3305-395A>T (n.3305-395A>T) c.3122-395A>T (n.3122-395A>T) c.2694A>T (p.Glu898Asp) c.1737A>T (p.Glu579Asp) c.1728A>T (p.Glu576Asp) | |
| 5 | g.37000423G>A | CA359517486 | NIPBL | c.3355G>A (p.Glu1119Lys) n.706G>A c.1-64155G>A (n.1-64155G>A) c.2611G>A (p.Glu871Lys) c.3305-394G>A (n.3305-394G>A) c.3122-394G>A (n.3122-394G>A) c.2695G>A (p.Glu899Lys) c.1738G>A (p.Glu580Lys) c.1729G>A (p.Glu577Lys) | |
| 5 | g.37000423G>C | CA359517487 | NIPBL | c.3355G>C (p.Glu1119Gln) n.706G>C c.1-64155G>C (n.1-64155G>C) c.2611G>C (p.Glu871Gln) c.3305-394G>C (n.3305-394G>C) c.3122-394G>C (n.3122-394G>C) c.2695G>C (p.Glu899Gln) c.1738G>C (p.Glu580Gln) c.1729G>C (p.Glu577Gln) | |
| 5 | g.37000423G>T | CA359517490 | NIPBL | c.3355G>T (p.Glu1119Ter) n.706G>T c.1-64155G>T (n.1-64155G>T) c.2611G>T (p.Glu871Ter) c.3305-394G>T (n.3305-394G>T) c.3122-394G>T (n.3122-394G>T) c.2695G>T (p.Glu899Ter) c.1738G>T (p.Glu580Ter) c.1729G>T (p.Glu577Ter) | |
| 5 | g.37000424A>C | CA359517493 | NIPBL | c.3356A>C (p.Glu1119Ala) n.707A>C c.1-64154A>C (n.1-64154A>C) c.2612A>C (p.Glu871Ala) c.3305-393A>C (n.3305-393A>C) c.3122-393A>C (n.3122-393A>C) c.2696A>C (p.Glu899Ala) c.1739A>C (p.Glu580Ala) c.1730A>C (p.Glu577Ala) | |
| 5 | g.37000424A>G | CA359517495 | NIPBL | c.3356A>G (p.Glu1119Gly) n.707A>G c.1-64154A>G (n.1-64154A>G) c.2612A>G (p.Glu871Gly) c.3305-393A>G (n.3305-393A>G) c.3122-393A>G (n.3122-393A>G) c.2696A>G (p.Glu899Gly) c.1739A>G (p.Glu580Gly) c.1730A>G (p.Glu577Gly) | |
| 5 | g.37000424A>T | CA359517497 | NIPBL | c.3356A>T (p.Glu1119Val) n.707A>T c.1-64154A>T (n.1-64154A>T) c.2612A>T (p.Glu871Val) c.3305-393A>T (n.3305-393A>T) c.3122-393A>T (n.3122-393A>T) c.2696A>T (p.Glu899Val) c.1739A>T (p.Glu580Val) c.1730A>T (p.Glu577Val) | |
| 5 | g.37000425G>A | CA443904234 | NIPBL | c.3357G>A (p.Glu1119=) n.708G>A c.1-64153G>A (n.1-64153G>A) c.2613G>A (p.Glu871=) c.3305-392G>A (n.3305-392G>A) c.3122-392G>A (n.3122-392G>A) c.2697G>A (p.Glu899=) c.1740G>A (p.Glu580=) c.1731G>A (p.Glu577=) | gnomAD v4 |
| 5 | g.37000425G>C | CA359517500 | NIPBL | c.3357G>C (p.Glu1119Asp) n.708G>C c.1-64153G>C (n.1-64153G>C) c.2613G>C (p.Glu871Asp) c.3305-392G>C (n.3305-392G>C) c.3122-392G>C (n.3122-392G>C) c.2697G>C (p.Glu899Asp) c.1740G>C (p.Glu580Asp) c.1731G>C (p.Glu577Asp) | |
| 5 | g.37000425G>T | CA359517502 | NIPBL | c.3357G>T (p.Glu1119Asp) n.708G>T c.1-64153G>T (n.1-64153G>T) c.2613G>T (p.Glu871Asp) c.3305-392G>T (n.3305-392G>T) c.3122-392G>T (n.3122-392G>T) c.2697G>T (p.Glu899Asp) c.1740G>T (p.Glu580Asp) c.1731G>T (p.Glu577Asp) | |
| 5 | g.37000426C>A | CA359517507 | NIPBL | c.3358C>A (p.Arg1120Ser) n.709C>A c.1-64152C>A (n.1-64152C>A) c.2614C>A (p.Arg872Ser) c.3305-391C>A (n.3305-391C>A) c.3122-391C>A (n.3122-391C>A) c.2698C>A (p.Arg900Ser) c.1741C>A (p.Arg581Ser) c.1732C>A (p.Arg578Ser) | gnomAD v4 |
| 5 | g.37000426C= | CA1539600805 | NIPBL | c.3358C= (p.Arg1120=) n.709C= c.1-64152C= (n.1-64152C=) c.2614C= (p.Arg872=) c.3305-391C= (n.3305-391C=) c.3122-391C= (n.3122-391C=) c.2698C= (p.Arg900=) c.1741C= (p.Arg581=) c.1732C= (p.Arg578=) | |
| 5 | g.37000426C>G | CA359517512 | NIPBL | c.3358C>G (p.Arg1120Gly) n.709C>G c.1-64152C>G (n.1-64152C>G) c.2614C>G (p.Arg872Gly) c.3305-391C>G (n.3305-391C>G) c.3122-391C>G (n.3122-391C>G) c.2698C>G (p.Arg900Gly) c.1741C>G (p.Arg581Gly) c.1732C>G (p.Arg578Gly) | |
| 5 | g.37000426C>T | CA3236324 | NIPBL | c.3358C>T (p.Arg1120Cys) n.709C>T c.1-64152C>T (n.1-64152C>T) c.2614C>T (p.Arg872Cys) c.3305-391C>T (n.3305-391C>T) c.3122-391C>T (n.3122-391C>T) c.2698C>T (p.Arg900Cys) c.1741C>T (p.Arg581Cys) c.1732C>T (p.Arg578Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000427G>A | CA359517532 | NIPBL | c.3359G>A (p.Arg1120His) n.710G>A c.1-64151G>A (n.1-64151G>A) c.2615G>A (p.Arg872His) c.3305-390G>A (n.3305-390G>A) c.3122-390G>A (n.3122-390G>A) c.2699G>A (p.Arg900His) c.1742G>A (p.Arg581His) c.1733G>A (p.Arg578His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000427G>C | CA359517534 | NIPBL | c.3359G>C (p.Arg1120Pro) n.710G>C c.1-64151G>C (n.1-64151G>C) c.2615G>C (p.Arg872Pro) c.3305-390G>C (n.3305-390G>C) c.3122-390G>C (n.3122-390G>C) c.2699G>C (p.Arg900Pro) c.1742G>C (p.Arg581Pro) c.1733G>C (p.Arg578Pro) | |
| 5 | g.37000427G= | CA1539600811 | NIPBL | c.3359G= (p.Arg1120=) n.710G= c.1-64151G= (n.1-64151G=) c.2615G= (p.Arg872=) c.3305-390G= (n.3305-390G=) c.3122-390G= (n.3122-390G=) c.2699G= (p.Arg900=) c.1742G= (p.Arg581=) c.1733G= (p.Arg578=) |