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.37052366A>C | CA359510986 | NIPBL | c.7063A>C (p.Met2355Leu) n.945A>C c.1-12212A>C (n.1-12212A>C) c.6319A>C (p.Met2107Leu) c.6865A>C (p.Met2289Leu) c.6682A>C (p.Met2228Leu) c.6403A>C (p.Met2135Leu) c.5446A>C (p.Met1816Leu) c.5437A>C (p.Met1813Leu) | |
| 5 | g.37052366A>G | CA359510989 | NIPBL | c.7063A>G (p.Met2355Val) n.945A>G c.1-12212A>G (n.1-12212A>G) c.6319A>G (p.Met2107Val) c.6865A>G (p.Met2289Val) c.6682A>G (p.Met2228Val) c.6403A>G (p.Met2135Val) c.5446A>G (p.Met1816Val) c.5437A>G (p.Met1813Val) | ClinVar dbSNP |
| 5 | g.37052366A>T | CA359510992 | NIPBL | c.7063A>T (p.Met2355Leu) n.945A>T c.1-12212A>T (n.1-12212A>T) c.6319A>T (p.Met2107Leu) c.6865A>T (p.Met2289Leu) c.6682A>T (p.Met2228Leu) c.6403A>T (p.Met2135Leu) c.5446A>T (p.Met1816Leu) c.5437A>T (p.Met1813Leu) | |
| 5 | g.37052367T>A | CA359510995 | NIPBL | c.7064T>A (p.Met2355Lys) n.946T>A c.1-12211T>A (n.1-12211T>A) c.6320T>A (p.Met2107Lys) c.6866T>A (p.Met2289Lys) c.6683T>A (p.Met2228Lys) c.6404T>A (p.Met2135Lys) c.5447T>A (p.Met1816Lys) c.5438T>A (p.Met1813Lys) | |
| 5 | g.37052367T>C | CA359510996 | NIPBL | c.7064T>C (p.Met2355Thr) n.946T>C c.1-12211T>C (n.1-12211T>C) c.6320T>C (p.Met2107Thr) c.6866T>C (p.Met2289Thr) c.6683T>C (p.Met2228Thr) c.6404T>C (p.Met2135Thr) c.5447T>C (p.Met1816Thr) c.5438T>C (p.Met1813Thr) | |
| 5 | g.37052367T>G | CA359510997 | NIPBL | c.7064T>G (p.Met2355Arg) n.946T>G c.1-12211T>G (n.1-12211T>G) c.6320T>G (p.Met2107Arg) c.6866T>G (p.Met2289Arg) c.6683T>G (p.Met2228Arg) c.6404T>G (p.Met2135Arg) c.5447T>G (p.Met1816Arg) c.5438T>G (p.Met1813Arg) | |
| 5 | g.37052368G>A | CA359510998 | NIPBL | c.7065G>A (p.Met2355Ile) n.947G>A c.1-12210G>A (n.1-12210G>A) c.6321G>A (p.Met2107Ile) c.6867G>A (p.Met2289Ile) c.6684G>A (p.Met2228Ile) c.6405G>A (p.Met2135Ile) c.5448G>A (p.Met1816Ile) c.5439G>A (p.Met1813Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37052368G>C | CA359511000 | NIPBL | c.7065G>C (p.Met2355Ile) n.947G>C c.1-12210G>C (n.1-12210G>C) c.6321G>C (p.Met2107Ile) c.6867G>C (p.Met2289Ile) c.6684G>C (p.Met2228Ile) c.6405G>C (p.Met2135Ile) c.5448G>C (p.Met1816Ile) c.5439G>C (p.Met1813Ile) | |
| 5 | g.37052368G= | CA1539572075 | NIPBL | c.7065G= (p.Met2355=) n.947G= c.1-12210G= (n.1-12210G=) c.6321G= (p.Met2107=) c.6867G= (p.Met2289=) c.6684G= (p.Met2228=) c.6405G= (p.Met2135=) c.5448G= (p.Met1816=) c.5439G= (p.Met1813=) | |
| 5 | g.37052368G>T | CA359511003 | NIPBL | c.7065G>T (p.Met2355Ile) n.947G>T c.1-12210G>T (n.1-12210G>T) c.6321G>T (p.Met2107Ile) c.6867G>T (p.Met2289Ile) c.6684G>T (p.Met2228Ile) c.6405G>T (p.Met2135Ile) c.5448G>T (p.Met1816Ile) c.5439G>T (p.Met1813Ile) | |
| 5 | g.37052369A>C | CA359511016 | NIPBL | c.7066A>C (p.Lys2356Gln) n.948A>C c.1-12209A>C (n.1-12209A>C) c.6322A>C (p.Lys2108Gln) c.6868A>C (p.Lys2290Gln) c.6685A>C (p.Lys2229Gln) c.6406A>C (p.Lys2136Gln) c.5449A>C (p.Lys1817Gln) c.5440A>C (p.Lys1814Gln) | |
| 5 | g.37052369A>G | CA359511018 | NIPBL | c.7066A>G (p.Lys2356Glu) n.948A>G c.1-12209A>G (n.1-12209A>G) c.6322A>G (p.Lys2108Glu) c.6868A>G (p.Lys2290Glu) c.6685A>G (p.Lys2229Glu) c.6406A>G (p.Lys2136Glu) c.5449A>G (p.Lys1817Glu) c.5440A>G (p.Lys1814Glu) | |
| 5 | g.37052369A>T | CA359511022 | NIPBL | c.7066A>T (p.Lys2356Ter) n.948A>T c.1-12209A>T (n.1-12209A>T) c.6322A>T (p.Lys2108Ter) c.6868A>T (p.Lys2290Ter) c.6685A>T (p.Lys2229Ter) c.6406A>T (p.Lys2136Ter) c.5449A>T (p.Lys1817Ter) c.5440A>T (p.Lys1814Ter) | |
| 5 | g.37052370A>C | CA359511043 | NIPBL | c.7067A>C (p.Lys2356Thr) n.949A>C c.1-12208A>C (n.1-12208A>C) c.6323A>C (p.Lys2108Thr) c.6869A>C (p.Lys2290Thr) c.6686A>C (p.Lys2229Thr) c.6407A>C (p.Lys2136Thr) c.5450A>C (p.Lys1817Thr) c.5441A>C (p.Lys1814Thr) | |
| 5 | g.37052370A>G | CA359511036 | NIPBL | c.7067A>G (p.Lys2356Arg) n.949A>G c.1-12208A>G (n.1-12208A>G) c.6323A>G (p.Lys2108Arg) c.6869A>G (p.Lys2290Arg) c.6686A>G (p.Lys2229Arg) c.6407A>G (p.Lys2136Arg) c.5450A>G (p.Lys1817Arg) c.5441A>G (p.Lys1814Arg) | |
| 5 | g.37052370A>T | CA359511027 | NIPBL | c.7067A>T (p.Lys2356Ile) n.949A>T c.1-12208A>T (n.1-12208A>T) c.6323A>T (p.Lys2108Ile) c.6869A>T (p.Lys2290Ile) c.6686A>T (p.Lys2229Ile) c.6407A>T (p.Lys2136Ile) c.5450A>T (p.Lys1817Ile) c.5441A>T (p.Lys1814Ile) | |
| 5 | g.37052371A= | CA1539572078 | NIPBL | c.7068A= (p.Lys2356=) n.950A= c.1-12207A= (n.1-12207A=) c.6324A= (p.Lys2108=) c.6870A= (p.Lys2290=) c.6687A= (p.Lys2229=) c.6408A= (p.Lys2136=) c.5451A= (p.Lys1817=) c.5442A= (p.Lys1814=) | |
| 5 | g.37052371A>C | CA359511045 | NIPBL | c.7068A>C (p.Lys2356Asn) n.950A>C c.1-12207A>C (n.1-12207A>C) c.6324A>C (p.Lys2108Asn) c.6870A>C (p.Lys2290Asn) c.6687A>C (p.Lys2229Asn) c.6408A>C (p.Lys2136Asn) c.5451A>C (p.Lys1817Asn) c.5442A>C (p.Lys1814Asn) | |
| 5 | g.37052371A>G | CA443911252 | NIPBL | c.7068A>G (p.Lys2356=) n.950A>G c.1-12207A>G (n.1-12207A>G) c.6324A>G (p.Lys2108=) c.6870A>G (p.Lys2290=) c.6687A>G (p.Lys2229=) c.6408A>G (p.Lys2136=) c.5451A>G (p.Lys1817=) c.5442A>G (p.Lys1814=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37052371A>T | CA359511046 | NIPBL | c.7068A>T (p.Lys2356Asn) n.950A>T c.1-12207A>T (n.1-12207A>T) c.6324A>T (p.Lys2108Asn) c.6870A>T (p.Lys2290Asn) c.6687A>T (p.Lys2229Asn) c.6408A>T (p.Lys2136Asn) c.5451A>T (p.Lys1817Asn) c.5442A>T (p.Lys1814Asn) | |
| 5 | g.37052372G>A | CA359511048 | NIPBL | c.7069G>A (p.Ala2357Thr) n.951G>A c.1-12206G>A (n.1-12206G>A) c.6325G>A (p.Ala2109Thr) c.6871G>A (p.Ala2291Thr) c.6688G>A (p.Ala2230Thr) c.6409G>A (p.Ala2137Thr) c.5452G>A (p.Ala1818Thr) c.5443G>A (p.Ala1815Thr) | |
| 5 | g.37052372G>C | CA359511050 | NIPBL | c.7069G>C (p.Ala2357Pro) n.951G>C c.1-12206G>C (n.1-12206G>C) c.6325G>C (p.Ala2109Pro) c.6871G>C (p.Ala2291Pro) c.6688G>C (p.Ala2230Pro) c.6409G>C (p.Ala2137Pro) c.5452G>C (p.Ala1818Pro) c.5443G>C (p.Ala1815Pro) | |
| 5 | g.37052372G>T | CA359511051 | NIPBL | c.7069G>T (p.Ala2357Ser) n.951G>T c.1-12206G>T (n.1-12206G>T) c.6325G>T (p.Ala2109Ser) c.6871G>T (p.Ala2291Ser) c.6688G>T (p.Ala2230Ser) c.6409G>T (p.Ala2137Ser) c.5452G>T (p.Ala1818Ser) c.5443G>T (p.Ala1815Ser) | |
| 5 | g.37052373C>A | CA359511052 | NIPBL | c.7070C>A (p.Ala2357Glu) n.952C>A c.1-12205C>A (n.1-12205C>A) c.6326C>A (p.Ala2109Glu) c.6872C>A (p.Ala2291Glu) c.6689C>A (p.Ala2230Glu) c.6410C>A (p.Ala2137Glu) c.5453C>A (p.Ala1818Glu) c.5444C>A (p.Ala1815Glu) | |
| 5 | g.37052373C>G | CA359511056 | NIPBL | c.7070C>G (p.Ala2357Gly) n.952C>G c.1-12205C>G (n.1-12205C>G) c.6326C>G (p.Ala2109Gly) c.6872C>G (p.Ala2291Gly) c.6689C>G (p.Ala2230Gly) c.6410C>G (p.Ala2137Gly) c.5453C>G (p.Ala1818Gly) c.5444C>G (p.Ala1815Gly) | |
| 5 | g.37052373C>T | CA359511057 | NIPBL | c.7070C>T (p.Ala2357Val) n.952C>T c.1-12205C>T (n.1-12205C>T) c.6326C>T (p.Ala2109Val) c.6872C>T (p.Ala2291Val) c.6689C>T (p.Ala2230Val) c.6410C>T (p.Ala2137Val) c.5453C>T (p.Ala1818Val) c.5444C>T (p.Ala1815Val) | |
| 5 | g.37052374A>C | CA443911267 | NIPBL | c.7071A>C (p.Ala2357=) n.953A>C c.1-12204A>C (n.1-12204A>C) c.6327A>C (p.Ala2109=) c.6873A>C (p.Ala2291=) c.6690A>C (p.Ala2230=) c.6411A>C (p.Ala2137=) c.5454A>C (p.Ala1818=) c.5445A>C (p.Ala1815=) | |
| 5 | g.37052374A>G | CA443911269 | NIPBL | c.7071A>G (p.Ala2357=) n.953A>G c.1-12204A>G (n.1-12204A>G) c.6327A>G (p.Ala2109=) c.6873A>G (p.Ala2291=) c.6690A>G (p.Ala2230=) c.6411A>G (p.Ala2137=) c.5454A>G (p.Ala1818=) c.5445A>G (p.Ala1815=) | gnomAD v4 |
| 5 | g.37052374A>T | CA443911271 | NIPBL | c.7071A>T (p.Ala2357=) n.953A>T c.1-12204A>T (n.1-12204A>T) c.6327A>T (p.Ala2109=) c.6873A>T (p.Ala2291=) c.6690A>T (p.Ala2230=) c.6411A>T (p.Ala2137=) c.5454A>T (p.Ala1818=) c.5445A>T (p.Ala1815=) | |
| 5 | g.37052374_37052377del | CA2506879002 | NIPBL | c.7071_7074del (p.Val2358LeufsTer3) n.953_956del c.1-12204_1-12201del (n.1-12204_1-12201del) c.6327_6330del (p.Val2110LeufsTer3) c.6873_6876del (p.Val2292LeufsTer3) c.6690_6693del (p.Val2231LeufsTer3) c.6411_6414del (p.Val2138LeufsTer3) c.5454_5457del (p.Val1819LeufsTer3) c.5445_5448del (p.Val1816LeufsTer3) | |
| 5 | g.37052375G>A | CA359511064 | NIPBL | c.7072G>A (p.Val2358Met) n.954G>A c.1-12203G>A (n.1-12203G>A) c.6328G>A (p.Val2110Met) c.6874G>A (p.Val2292Met) c.6691G>A (p.Val2231Met) c.6412G>A (p.Val2138Met) c.5455G>A (p.Val1819Met) c.5446G>A (p.Val1816Met) | |
| 5 | g.37052375G>C | CA359511061 | NIPBL | c.7072G>C (p.Val2358Leu) n.954G>C c.1-12203G>C (n.1-12203G>C) c.6328G>C (p.Val2110Leu) c.6874G>C (p.Val2292Leu) c.6691G>C (p.Val2231Leu) c.6412G>C (p.Val2138Leu) c.5455G>C (p.Val1819Leu) c.5446G>C (p.Val1816Leu) | gnomAD v4 |
| 5 | g.37052375G>T | CA359511060 | NIPBL | c.7072G>T (p.Val2358Leu) n.954G>T c.1-12203G>T (n.1-12203G>T) c.6328G>T (p.Val2110Leu) c.6874G>T (p.Val2292Leu) c.6691G>T (p.Val2231Leu) c.6412G>T (p.Val2138Leu) c.5455G>T (p.Val1819Leu) c.5446G>T (p.Val1816Leu) | |
| 5 | g.37052376T>A | CA359511067 | NIPBL | c.7073T>A (p.Val2358Glu) n.955T>A c.1-12202T>A (n.1-12202T>A) c.6329T>A (p.Val2110Glu) c.6875T>A (p.Val2292Glu) c.6692T>A (p.Val2231Glu) c.6413T>A (p.Val2138Glu) c.5456T>A (p.Val1819Glu) c.5447T>A (p.Val1816Glu) | |
| 5 | g.37052376T>C | CA359511069 | NIPBL | c.7073T>C (p.Val2358Ala) n.955T>C c.1-12202T>C (n.1-12202T>C) c.6329T>C (p.Val2110Ala) c.6875T>C (p.Val2292Ala) c.6692T>C (p.Val2231Ala) c.6413T>C (p.Val2138Ala) c.5456T>C (p.Val1819Ala) c.5447T>C (p.Val1816Ala) | |
| 5 | g.37052376T>G | CA359511071 | NIPBL | c.7073T>G (p.Val2358Gly) n.955T>G c.1-12202T>G (n.1-12202T>G) c.6329T>G (p.Val2110Gly) c.6875T>G (p.Val2292Gly) c.6692T>G (p.Val2231Gly) c.6413T>G (p.Val2138Gly) c.5456T>G (p.Val1819Gly) c.5447T>G (p.Val1816Gly) | |
| 5 | g.37052377G>A | CA443911283 | NIPBL | c.7074G>A (p.Val2358=) n.956G>A c.1-12201G>A (n.1-12201G>A) c.6330G>A (p.Val2110=) c.6876G>A (p.Val2292=) c.6693G>A (p.Val2231=) c.6414G>A (p.Val2138=) c.5457G>A (p.Val1819=) c.5448G>A (p.Val1816=) | |
| 5 | g.37052377G>C | CA443911285 | NIPBL | c.7074G>C (p.Val2358=) n.956G>C c.1-12201G>C (n.1-12201G>C) c.6330G>C (p.Val2110=) c.6876G>C (p.Val2292=) c.6693G>C (p.Val2231=) c.6414G>C (p.Val2138=) c.5457G>C (p.Val1819=) c.5448G>C (p.Val1816=) | |
| 5 | g.37052377G>T | CA443911288 | NIPBL | c.7074G>T (p.Val2358=) n.956G>T c.1-12201G>T (n.1-12201G>T) c.6330G>T (p.Val2110=) c.6876G>T (p.Val2292=) c.6693G>T (p.Val2231=) c.6414G>T (p.Val2138=) c.5457G>T (p.Val1819=) c.5448G>T (p.Val1816=) | |
| 5 | g.37052378G>A | CA359511073 | NIPBL | c.7075G>A (p.Ala2359Thr) n.957G>A c.1-12200G>A (n.1-12200G>A) c.6331G>A (p.Ala2111Thr) c.6877G>A (p.Ala2293Thr) c.6694G>A (p.Ala2232Thr) c.6415G>A (p.Ala2139Thr) c.5458G>A (p.Ala1820Thr) c.5449G>A (p.Ala1817Thr) | |
| 5 | g.37052378G>C | CA359511075 | NIPBL | c.7075G>C (p.Ala2359Pro) n.957G>C c.1-12200G>C (n.1-12200G>C) c.6331G>C (p.Ala2111Pro) c.6877G>C (p.Ala2293Pro) c.6694G>C (p.Ala2232Pro) c.6415G>C (p.Ala2139Pro) c.5458G>C (p.Ala1820Pro) c.5449G>C (p.Ala1817Pro) | |
| 5 | g.37052378G>T | CA359511076 | NIPBL | c.7075G>T (p.Ala2359Ser) n.957G>T c.1-12200G>T (n.1-12200G>T) c.6331G>T (p.Ala2111Ser) c.6877G>T (p.Ala2293Ser) c.6694G>T (p.Ala2232Ser) c.6415G>T (p.Ala2139Ser) c.5458G>T (p.Ala1820Ser) c.5449G>T (p.Ala1817Ser) | |
| 5 | g.37052379C>A | CA359511077 | NIPBL | c.7076C>A (p.Ala2359Asp) n.958C>A c.1-12199C>A (n.1-12199C>A) c.6332C>A (p.Ala2111Asp) c.6878C>A (p.Ala2293Asp) c.6695C>A (p.Ala2232Asp) c.6416C>A (p.Ala2139Asp) c.5459C>A (p.Ala1820Asp) c.5450C>A (p.Ala1817Asp) | |
| 5 | g.37052379C= | CA1539572081 | NIPBL | c.7076C= (p.Ala2359=) n.958C= c.1-12199C= (n.1-12199C=) c.6332C= (p.Ala2111=) c.6878C= (p.Ala2293=) c.6695C= (p.Ala2232=) c.6416C= (p.Ala2139=) c.5459C= (p.Ala1820=) c.5450C= (p.Ala1817=) | |
| 5 | g.37052379C>G | CA359511079 | NIPBL | c.7076C>G (p.Ala2359Gly) n.958C>G c.1-12199C>G (n.1-12199C>G) c.6332C>G (p.Ala2111Gly) c.6878C>G (p.Ala2293Gly) c.6695C>G (p.Ala2232Gly) c.6416C>G (p.Ala2139Gly) c.5459C>G (p.Ala1820Gly) c.5450C>G (p.Ala1817Gly) | dbSNP gnomAD v4 |
| 5 | g.37052379C>T | CA359511078 | NIPBL | c.7076C>T (p.Ala2359Val) n.958C>T c.1-12199C>T (n.1-12199C>T) c.6332C>T (p.Ala2111Val) c.6878C>T (p.Ala2293Val) c.6695C>T (p.Ala2232Val) c.6416C>T (p.Ala2139Val) c.5459C>T (p.Ala1820Val) c.5450C>T (p.Ala1817Val) | gnomAD v4 |
| 5 | g.37052380T>A | CA443911298 | NIPBL | c.7077T>A (p.Ala2359=) n.959T>A c.1-12198T>A (n.1-12198T>A) c.6333T>A (p.Ala2111=) c.6879T>A (p.Ala2293=) c.6696T>A (p.Ala2232=) c.6417T>A (p.Ala2139=) c.5460T>A (p.Ala1820=) c.5451T>A (p.Ala1817=) | |
| 5 | g.37052380T>C | CA3237137 | NIPBL | c.7077T>C (p.Ala2359=) n.959T>C c.1-12198T>C (n.1-12198T>C) c.6333T>C (p.Ala2111=) c.6879T>C (p.Ala2293=) c.6696T>C (p.Ala2232=) c.6417T>C (p.Ala2139=) c.5460T>C (p.Ala1820=) c.5451T>C (p.Ala1817=) | dbSNP ExAC |
| 5 | g.37052380T>G | CA443911301 | NIPBL | c.7077T>G (p.Ala2359=) n.959T>G c.1-12198T>G (n.1-12198T>G) c.6333T>G (p.Ala2111=) c.6879T>G (p.Ala2293=) c.6696T>G (p.Ala2232=) c.6417T>G (p.Ala2139=) c.5460T>G (p.Ala1820=) c.5451T>G (p.Ala1817=) | |
| 5 | g.37052380T= | CA1539572086 | NIPBL | c.7077T= (p.Ala2359=) n.959T= c.1-12198T= (n.1-12198T=) c.6333T= (p.Ala2111=) c.6879T= (p.Ala2293=) c.6696T= (p.Ala2232=) c.6417T= (p.Ala2139=) c.5460T= (p.Ala1820=) c.5451T= (p.Ala1817=) |