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.37052466C>A | CA359511520 | NIPBL | c.7163C>A (p.Ser2388Tyr) n.1045C>A c.1-12112C>A (n.1-12112C>A) c.6419C>A (p.Ser2140Tyr) c.6965C>A (p.Ser2322Tyr) c.6782C>A (p.Ser2261Tyr) c.6503C>A (p.Ser2168Tyr) c.5546C>A (p.Ser1849Tyr) c.5537C>A (p.Ser1846Tyr) | |
| 5 | g.37052466C= | CA1539572274 | NIPBL | c.7163C= (p.Ser2388=) n.1045C= c.1-12112C= (n.1-12112C=) c.6419C= (p.Ser2140=) c.6965C= (p.Ser2322=) c.6782C= (p.Ser2261=) c.6503C= (p.Ser2168=) c.5546C= (p.Ser1849=) c.5537C= (p.Ser1846=) | |
| 5 | g.37052466C>G | CA359511517 | NIPBL | c.7163C>G (p.Ser2388Cys) n.1045C>G c.1-12112C>G (n.1-12112C>G) c.6419C>G (p.Ser2140Cys) c.6965C>G (p.Ser2322Cys) c.6782C>G (p.Ser2261Cys) c.6503C>G (p.Ser2168Cys) c.5546C>G (p.Ser1849Cys) c.5537C>G (p.Ser1846Cys) | dbSNP gnomAD v4 |
| 5 | g.37052466C>T | CA359511518 | NIPBL | c.7163C>T (p.Ser2388Phe) n.1045C>T c.1-12112C>T (n.1-12112C>T) c.6419C>T (p.Ser2140Phe) c.6965C>T (p.Ser2322Phe) c.6782C>T (p.Ser2261Phe) c.6503C>T (p.Ser2168Phe) c.5546C>T (p.Ser1849Phe) c.5537C>T (p.Ser1846Phe) | |
| 5 | g.37052467T>A | CA3237150 | NIPBL | c.7164T>A (p.Ser2388=) n.1046T>A c.1-12111T>A (n.1-12111T>A) c.6420T>A (p.Ser2140=) c.6966T>A (p.Ser2322=) c.6783T>A (p.Ser2261=) c.6504T>A (p.Ser2168=) c.5547T>A (p.Ser1849=) c.5538T>A (p.Ser1846=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.37052467T>C | CA3237149 | NIPBL | c.7164T>C (p.Ser2388=) n.1046T>C c.1-12111T>C (n.1-12111T>C) c.6420T>C (p.Ser2140=) c.6966T>C (p.Ser2322=) c.6783T>C (p.Ser2261=) c.6504T>C (p.Ser2168=) c.5547T>C (p.Ser1849=) c.5538T>C (p.Ser1846=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37052467T>G | CA443911748 | NIPBL | c.7164T>G (p.Ser2388=) n.1046T>G c.1-12111T>G (n.1-12111T>G) c.6420T>G (p.Ser2140=) c.6966T>G (p.Ser2322=) c.6783T>G (p.Ser2261=) c.6504T>G (p.Ser2168=) c.5547T>G (p.Ser1849=) c.5538T>G (p.Ser1846=) | |
| 5 | g.37052467T= | CA1539572281 | NIPBL | c.7164T= (p.Ser2388=) n.1046T= c.1-12111T= (n.1-12111T=) c.6420T= (p.Ser2140=) c.6966T= (p.Ser2322=) c.6783T= (p.Ser2261=) c.6504T= (p.Ser2168=) c.5547T= (p.Ser1849=) c.5538T= (p.Ser1846=) | |
| 5 | g.37052468A= | CA1539572287 | NIPBL | c.7165A= (p.Ser2389=) n.1047A= c.1-12110A= (n.1-12110A=) c.6421A= (p.Ser2141=) c.6967A= (p.Ser2323=) c.6784A= (p.Ser2262=) c.6505A= (p.Ser2169=) c.5548A= (p.Ser1850=) c.5539A= (p.Ser1847=) | |
| 5 | g.37052468A>C | CA359511526 | NIPBL | c.7165A>C (p.Ser2389Arg) n.1047A>C c.1-12110A>C (n.1-12110A>C) c.6421A>C (p.Ser2141Arg) c.6967A>C (p.Ser2323Arg) c.6784A>C (p.Ser2262Arg) c.6505A>C (p.Ser2169Arg) c.5548A>C (p.Ser1850Arg) c.5539A>C (p.Ser1847Arg) | |
| 5 | g.37052468A>G | CA359511529 | NIPBL | c.7165A>G (p.Ser2389Gly) n.1047A>G c.1-12110A>G (n.1-12110A>G) c.6421A>G (p.Ser2141Gly) c.6967A>G (p.Ser2323Gly) c.6784A>G (p.Ser2262Gly) c.6505A>G (p.Ser2169Gly) c.5548A>G (p.Ser1850Gly) c.5539A>G (p.Ser1847Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37052468A>T | CA359511532 | NIPBL | c.7165A>T (p.Ser2389Cys) n.1047A>T c.1-12110A>T (n.1-12110A>T) c.6421A>T (p.Ser2141Cys) c.6967A>T (p.Ser2323Cys) c.6784A>T (p.Ser2262Cys) c.6505A>T (p.Ser2169Cys) c.5548A>T (p.Ser1850Cys) c.5539A>T (p.Ser1847Cys) | |
| 5 | g.37052469G>A | CA359511534 | NIPBL | c.7166G>A (p.Ser2389Asn) n.1048G>A c.1-12109G>A (n.1-12109G>A) c.6422G>A (p.Ser2141Asn) c.6968G>A (p.Ser2323Asn) c.6785G>A (p.Ser2262Asn) c.6506G>A (p.Ser2169Asn) c.5549G>A (p.Ser1850Asn) c.5540G>A (p.Ser1847Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37052469G>C | CA359511539 | NIPBL | c.7166G>C (p.Ser2389Thr) n.1048G>C c.1-12109G>C (n.1-12109G>C) c.6422G>C (p.Ser2141Thr) c.6968G>C (p.Ser2323Thr) c.6785G>C (p.Ser2262Thr) c.6506G>C (p.Ser2169Thr) c.5549G>C (p.Ser1850Thr) c.5540G>C (p.Ser1847Thr) | |
| 5 | g.37052469G= | CA1539572290 | NIPBL | c.7166G= (p.Ser2389=) n.1048G= c.1-12109G= (n.1-12109G=) c.6422G= (p.Ser2141=) c.6968G= (p.Ser2323=) c.6785G= (p.Ser2262=) c.6506G= (p.Ser2169=) c.5549G= (p.Ser1850=) c.5540G= (p.Ser1847=) | |
| 5 | g.37052469G>T | CA3237151 | NIPBL | c.7166G>T (p.Ser2389Ile) n.1048G>T c.1-12109G>T (n.1-12109G>T) c.6422G>T (p.Ser2141Ile) c.6968G>T (p.Ser2323Ile) c.6785G>T (p.Ser2262Ile) c.6506G>T (p.Ser2169Ile) c.5549G>T (p.Ser1850Ile) c.5540G>T (p.Ser1847Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37052470C>A | CA359511544 | NIPBL | c.7167C>A (p.Ser2389Arg) n.1049C>A c.1-12108C>A (n.1-12108C>A) c.6423C>A (p.Ser2141Arg) c.6969C>A (p.Ser2323Arg) c.6786C>A (p.Ser2262Arg) c.6507C>A (p.Ser2169Arg) c.5550C>A (p.Ser1850Arg) c.5541C>A (p.Ser1847Arg) | |
| 5 | g.37052470C= | CA1539572292 | NIPBL | c.7167C= (p.Ser2389=) n.1049C= c.1-12108C= (n.1-12108C=) c.6423C= (p.Ser2141=) c.6969C= (p.Ser2323=) c.6786C= (p.Ser2262=) c.6507C= (p.Ser2169=) c.5550C= (p.Ser1850=) c.5541C= (p.Ser1847=) | |
| 5 | g.37052470C>G | CA359511546 | NIPBL | c.7167C>G (p.Ser2389Arg) n.1049C>G c.1-12108C>G (n.1-12108C>G) c.6423C>G (p.Ser2141Arg) c.6969C>G (p.Ser2323Arg) c.6786C>G (p.Ser2262Arg) c.6507C>G (p.Ser2169Arg) c.5550C>G (p.Ser1850Arg) c.5541C>G (p.Ser1847Arg) | |
| 5 | g.37052470C>T | CA443911760 | NIPBL | c.7167C>T (p.Ser2389=) n.1049C>T c.1-12108C>T (n.1-12108C>T) c.6423C>T (p.Ser2141=) c.6969C>T (p.Ser2323=) c.6786C>T (p.Ser2262=) c.6507C>T (p.Ser2169=) c.5550C>T (p.Ser1850=) c.5541C>T (p.Ser1847=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37052471G>A | CA272292 | NIPBL | c.7168G>A (p.Ala2390Thr) n.1050G>A c.1-12107G>A (n.1-12107G>A) c.6424G>A (p.Ala2142Thr) c.6970G>A (p.Ala2324Thr) c.6787G>A (p.Ala2263Thr) c.6508G>A (p.Ala2170Thr) c.5551G>A (p.Ala1851Thr) c.5542G>A (p.Ala1848Thr) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37052471G>C | CA359511551 | NIPBL | c.7168G>C (p.Ala2390Pro) n.1050G>C c.1-12107G>C (n.1-12107G>C) c.6424G>C (p.Ala2142Pro) c.6970G>C (p.Ala2324Pro) c.6787G>C (p.Ala2263Pro) c.6508G>C (p.Ala2170Pro) c.5551G>C (p.Ala1851Pro) c.5542G>C (p.Ala1848Pro) | |
| 5 | g.37052471G= | CA1539572303 | NIPBL | c.7168G= (p.Ala2390=) n.1050G= c.1-12107G= (n.1-12107G=) c.6424G= (p.Ala2142=) c.6970G= (p.Ala2324=) c.6787G= (p.Ala2263=) c.6508G= (p.Ala2170=) c.5551G= (p.Ala1851=) c.5542G= (p.Ala1848=) | |
| 5 | g.37052471G>T | CA359511555 | NIPBL | c.7168G>T (p.Ala2390Ser) n.1050G>T c.1-12107G>T (n.1-12107G>T) c.6424G>T (p.Ala2142Ser) c.6970G>T (p.Ala2324Ser) c.6787G>T (p.Ala2263Ser) c.6508G>T (p.Ala2170Ser) c.5551G>T (p.Ala1851Ser) c.5542G>T (p.Ala1848Ser) | ClinVar COSMIC COSMIC |
| 5 | g.37052472C>A | CA359511558 | NIPBL | c.7169C>A (p.Ala2390Asp) n.1051C>A c.1-12106C>A (n.1-12106C>A) c.6425C>A (p.Ala2142Asp) c.6971C>A (p.Ala2324Asp) c.6788C>A (p.Ala2263Asp) c.6509C>A (p.Ala2170Asp) c.5552C>A (p.Ala1851Asp) c.5543C>A (p.Ala1848Asp) | |
| 5 | g.37052472C>G | CA359511561 | NIPBL | c.7169C>G (p.Ala2390Gly) n.1051C>G c.1-12106C>G (n.1-12106C>G) c.6425C>G (p.Ala2142Gly) c.6971C>G (p.Ala2324Gly) c.6788C>G (p.Ala2263Gly) c.6509C>G (p.Ala2170Gly) c.5552C>G (p.Ala1851Gly) c.5543C>G (p.Ala1848Gly) | |
| 5 | g.37052472C>T | CA359511567 | NIPBL | c.7169C>T (p.Ala2390Val) n.1051C>T c.1-12106C>T (n.1-12106C>T) c.6425C>T (p.Ala2142Val) c.6971C>T (p.Ala2324Val) c.6788C>T (p.Ala2263Val) c.6509C>T (p.Ala2170Val) c.5552C>T (p.Ala1851Val) c.5543C>T (p.Ala1848Val) | ClinVar |
| 5 | g.37052473T>A | CA443911777 | NIPBL | c.7170T>A (p.Ala2390=) n.1052T>A c.1-12105T>A (n.1-12105T>A) c.6426T>A (p.Ala2142=) c.6972T>A (p.Ala2324=) c.6789T>A (p.Ala2263=) c.6510T>A (p.Ala2170=) c.5553T>A (p.Ala1851=) c.5544T>A (p.Ala1848=) | |
| 5 | g.37052473T>C | CA443911773 | NIPBL | c.7170T>C (p.Ala2390=) n.1052T>C c.1-12105T>C (n.1-12105T>C) c.6426T>C (p.Ala2142=) c.6972T>C (p.Ala2324=) c.6789T>C (p.Ala2263=) c.6510T>C (p.Ala2170=) c.5553T>C (p.Ala1851=) c.5544T>C (p.Ala1848=) | |
| 5 | g.37052473T>G | CA443911775 | NIPBL | c.7170T>G (p.Ala2390=) n.1052T>G c.1-12105T>G (n.1-12105T>G) c.6426T>G (p.Ala2142=) c.6972T>G (p.Ala2324=) c.6789T>G (p.Ala2263=) c.6510T>G (p.Ala2170=) c.5553T>G (p.Ala1851=) c.5544T>G (p.Ala1848=) | |
| 5 | g.37052474T>A | CA359511568 | NIPBL | c.7171T>A (p.Leu2391Met) n.1053T>A c.1-12104T>A (n.1-12104T>A) c.6427T>A (p.Leu2143Met) c.6973T>A (p.Leu2325Met) c.6790T>A (p.Leu2264Met) c.6511T>A (p.Leu2171Met) c.5554T>A (p.Leu1852Met) c.5545T>A (p.Leu1849Met) | |
| 5 | g.37052474T>C | CA443911781 | NIPBL | c.7171T>C (p.Leu2391=) n.1053T>C c.1-12104T>C (n.1-12104T>C) c.6427T>C (p.Leu2143=) c.6973T>C (p.Leu2325=) c.6790T>C (p.Leu2264=) c.6511T>C (p.Leu2171=) c.5554T>C (p.Leu1852=) c.5545T>C (p.Leu1849=) | |
| 5 | g.37052474T>G | CA359511570 | NIPBL | c.7171T>G (p.Leu2391Val) n.1053T>G c.1-12104T>G (n.1-12104T>G) c.6427T>G (p.Leu2143Val) c.6973T>G (p.Leu2325Val) c.6790T>G (p.Leu2264Val) c.6511T>G (p.Leu2171Val) c.5554T>G (p.Leu1852Val) c.5545T>G (p.Leu1849Val) | |
| 5 | g.37052475T>A | CA359511578 | NIPBL | c.7172T>A (p.Leu2391Ter) n.1054T>A c.1-12103T>A (n.1-12103T>A) c.6428T>A (p.Leu2143Ter) c.6974T>A (p.Leu2325Ter) c.6791T>A (p.Leu2264Ter) c.6512T>A (p.Leu2171Ter) c.5555T>A (p.Leu1852Ter) c.5546T>A (p.Leu1849Ter) | |
| 5 | g.37052475T>C | CA359511574 | NIPBL | c.7172T>C (p.Leu2391Ser) n.1054T>C c.1-12103T>C (n.1-12103T>C) c.6428T>C (p.Leu2143Ser) c.6974T>C (p.Leu2325Ser) c.6791T>C (p.Leu2264Ser) c.6512T>C (p.Leu2171Ser) c.5555T>C (p.Leu1852Ser) c.5546T>C (p.Leu1849Ser) | gnomAD v4 |
| 5 | g.37052475T>G | CA359511573 | NIPBL | c.7172T>G (p.Leu2391Trp) n.1054T>G c.1-12103T>G (n.1-12103T>G) c.6428T>G (p.Leu2143Trp) c.6974T>G (p.Leu2325Trp) c.6791T>G (p.Leu2264Trp) c.6512T>G (p.Leu2171Trp) c.5555T>G (p.Leu1852Trp) c.5546T>G (p.Leu1849Trp) | |
| 5 | g.37052476G>A | CA443911789 | NIPBL | c.7173G>A (p.Leu2391=) n.1055G>A c.1-12102G>A (n.1-12102G>A) c.6429G>A (p.Leu2143=) c.6975G>A (p.Leu2325=) c.6792G>A (p.Leu2264=) c.6513G>A (p.Leu2171=) c.5556G>A (p.Leu1852=) c.5547G>A (p.Leu1849=) | |
| 5 | g.37052476G>C | CA359511580 | NIPBL | c.7173G>C (p.Leu2391Phe) n.1055G>C c.1-12102G>C (n.1-12102G>C) c.6429G>C (p.Leu2143Phe) c.6975G>C (p.Leu2325Phe) c.6792G>C (p.Leu2264Phe) c.6513G>C (p.Leu2171Phe) c.5556G>C (p.Leu1852Phe) c.5547G>C (p.Leu1849Phe) | |
| 5 | g.37052476G= | CA1539572306 | NIPBL | c.7173G= (p.Leu2391=) n.1055G= c.1-12102G= (n.1-12102G=) c.6429G= (p.Leu2143=) c.6975G= (p.Leu2325=) c.6792G= (p.Leu2264=) c.6513G= (p.Leu2171=) c.5556G= (p.Leu1852=) c.5547G= (p.Leu1849=) | |
| 5 | g.37052476G>T | CA3237152 | NIPBL | c.7173G>T (p.Leu2391Phe) n.1055G>T c.1-12102G>T (n.1-12102G>T) c.6429G>T (p.Leu2143Phe) c.6975G>T (p.Leu2325Phe) c.6792G>T (p.Leu2264Phe) c.6513G>T (p.Leu2171Phe) c.5556G>T (p.Leu1852Phe) c.5547G>T (p.Leu1849Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37052477T>A | CA359511583 | NIPBL | c.7174T>A (p.Cys2392Ser) n.1056T>A c.1-12101T>A (n.1-12101T>A) c.6430T>A (p.Cys2144Ser) c.6976T>A (p.Cys2326Ser) c.6793T>A (p.Cys2265Ser) c.6514T>A (p.Cys2172Ser) c.5557T>A (p.Cys1853Ser) c.5548T>A (p.Cys1850Ser) | |
| 5 | g.37052477T>C | CA359511588 | NIPBL | c.7174T>C (p.Cys2392Arg) n.1056T>C c.1-12101T>C (n.1-12101T>C) c.6430T>C (p.Cys2144Arg) c.6976T>C (p.Cys2326Arg) c.6793T>C (p.Cys2265Arg) c.6514T>C (p.Cys2172Arg) c.5557T>C (p.Cys1853Arg) c.5548T>C (p.Cys1850Arg) | COSMIC COSMIC |
| 5 | g.37052477T>G | CA359511585 | NIPBL | c.7174T>G (p.Cys2392Gly) n.1056T>G c.1-12101T>G (n.1-12101T>G) c.6430T>G (p.Cys2144Gly) c.6976T>G (p.Cys2326Gly) c.6793T>G (p.Cys2265Gly) c.6514T>G (p.Cys2172Gly) c.5557T>G (p.Cys1853Gly) c.5548T>G (p.Cys1850Gly) | |
| 5 | g.37052478G>A | CA10603965 | NIPBL | c.7175G>A (p.Cys2392Tyr) n.1057G>A c.1-12100G>A (n.1-12100G>A) c.6431G>A (p.Cys2144Tyr) c.6977G>A (p.Cys2326Tyr) c.6794G>A (p.Cys2265Tyr) c.6515G>A (p.Cys2172Tyr) c.5558G>A (p.Cys1853Tyr) c.5549G>A (p.Cys1850Tyr) | ClinVar dbSNP |
| 5 | g.37052478G>C | CA359511592 | NIPBL | c.7175G>C (p.Cys2392Ser) n.1057G>C c.1-12100G>C (n.1-12100G>C) c.6431G>C (p.Cys2144Ser) c.6977G>C (p.Cys2326Ser) c.6794G>C (p.Cys2265Ser) c.6515G>C (p.Cys2172Ser) c.5558G>C (p.Cys1853Ser) c.5549G>C (p.Cys1850Ser) | |
| 5 | g.37052478G= | CA1539572311 | NIPBL | c.7175G= (p.Cys2392=) n.1057G= c.1-12100G= (n.1-12100G=) c.6431G= (p.Cys2144=) c.6977G= (p.Cys2326=) c.6794G= (p.Cys2265=) c.6515G= (p.Cys2172=) c.5558G= (p.Cys1853=) c.5549G= (p.Cys1850=) | |
| 5 | g.37052478G>T | CA359511595 | NIPBL | c.7175G>T (p.Cys2392Phe) n.1057G>T c.1-12100G>T (n.1-12100G>T) c.6431G>T (p.Cys2144Phe) c.6977G>T (p.Cys2326Phe) c.6794G>T (p.Cys2265Phe) c.6515G>T (p.Cys2172Phe) c.5558G>T (p.Cys1853Phe) c.5549G>T (p.Cys1850Phe) | |
| 5 | g.37052479T>A | CA359511596 | NIPBL | c.7176T>A (p.Cys2392Ter) n.1058T>A c.1-12099T>A (n.1-12099T>A) c.6432T>A (p.Cys2144Ter) c.6978T>A (p.Cys2326Ter) c.6795T>A (p.Cys2265Ter) c.6516T>A (p.Cys2172Ter) c.5559T>A (p.Cys1853Ter) c.5550T>A (p.Cys1850Ter) | |
| 5 | g.37052479T>C | CA443911802 | NIPBL | c.7176T>C (p.Cys2392=) n.1058T>C c.1-12099T>C (n.1-12099T>C) c.6432T>C (p.Cys2144=) c.6978T>C (p.Cys2326=) c.6795T>C (p.Cys2265=) c.6516T>C (p.Cys2172=) c.5559T>C (p.Cys1853=) c.5550T>C (p.Cys1850=) | |
| 5 | g.37052479T>G | CA359511598 | NIPBL | c.7176T>G (p.Cys2392Trp) n.1058T>G c.1-12099T>G (n.1-12099T>G) c.6432T>G (p.Cys2144Trp) c.6978T>G (p.Cys2326Trp) c.6795T>G (p.Cys2265Trp) c.6516T>G (p.Cys2172Trp) c.5559T>G (p.Cys1853Trp) c.5550T>G (p.Cys1850Trp) |