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 |
|---|---|---|---|---|---|
| 10 | g.133532169_133532177delinsACGTCATAG | CA1946830194 | CYP2E1 | c.533_541delinsACGTCATAG (p.Asn178=) n.594_602delinsACGTCATAG c.122_130delinsACGTCATAG (p.Asn41=) c.272_280delinsACGTCATAG (p.Asn91=) n.448+435_448+443delinsACGTCATAG c.226+435_226+443delinsACGTCATAG | |
| 10 | g.133532171_133532178del | CA5767622 | CYP2E1 | c.535_542del (p.Val179ArgfsTer9) n.596_603del c.124_131del (p.Val42ArgfsTer9) c.274_281del (p.Val92ArgfsTer9) n.448+437_448+444del c.226+437_226+444del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.133532177del | CA2611616713 | CYP2E1 | c.541del (p.Ala181ProfsTer17) n.602del c.130del (p.Ala44ProfsTer17) c.280del (p.Ala94ProfsTer17) n.448+443del c.226+443del | gnomAD v4 |
| 10 | g.133532177G>A | CA378835243 | CYP2E1 | c.541G>A (p.Ala181Thr) n.602G>A c.130G>A (p.Ala44Thr) c.280G>A (p.Ala94Thr) n.448+443G>A c.226+443G>A | |
| 10 | g.133532177G>C | CA378835240 | CYP2E1 | c.541G>C (p.Ala181Pro) n.602G>C c.130G>C (p.Ala44Pro) c.280G>C (p.Ala94Pro) n.448+443G>C c.226+443G>C | |
| 10 | g.133532177G>T | CA378835250 | CYP2E1 | c.541G>T (p.Ala181Ser) n.602G>T c.130G>T (p.Ala44Ser) c.280G>T (p.Ala94Ser) n.448+443G>T c.226+443G>T | |
| 10 | g.133532178C>A | CA378835255 | CYP2E1 | c.542C>A (p.Ala181Asp) n.603C>A c.131C>A (p.Ala44Asp) c.281C>A (p.Ala94Asp) n.448+444C>A c.226+444C>A | |
| 10 | g.133532178C>G | CA378835257 | CYP2E1 | c.542C>G (p.Ala181Gly) n.603C>G c.131C>G (p.Ala44Gly) c.281C>G (p.Ala94Gly) n.448+444C>G c.226+444C>G | |
| 10 | g.133532178C>T | CA378835259 | CYP2E1 | c.542C>T (p.Ala181Val) n.603C>T c.131C>T (p.Ala44Val) c.281C>T (p.Ala94Val) n.448+444C>T c.226+444C>T | |
| 10 | g.133532178_133532179dup | CA2611616715 | CYP2E1 | c.542_543dup (p.Asp182ProfsTer17) n.603_604dup c.131_132dup (p.Asp45ProfsTer17) c.281_282dup (p.Asp95ProfsTer17) n.448+444_448+445dup c.226+444_226+445dup | gnomAD v4 |
| 10 | g.133532179C>A | CA472244983 | CYP2E1 | c.543C>A (p.Ala181=) n.604C>A c.132C>A (p.Ala44=) c.282C>A (p.Ala94=) n.448+445C>A c.226+445C>A | |
| 10 | g.133532179C= | CA1946830231 | CYP2E1 | c.543C= (p.Ala181=) n.604C= c.132C= (p.Ala44=) c.282C= (p.Ala94=) n.448+445C= c.226+445C= | |
| 10 | g.133532179C>G | CA5767626 | CYP2E1 | c.543C>G (p.Ala181=) n.604C>G c.132C>G (p.Ala44=) c.282C>G (p.Ala94=) n.448+445C>G c.226+445C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133532179C>T | CA5767627 | CYP2E1 | c.543C>T (p.Ala181=) n.604C>T c.132C>T (p.Ala44=) c.282C>T (p.Ala94=) n.448+445C>T c.226+445C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.133532180G>A | CA5767628 | CYP2E1 | c.544G>A (p.Asp182Asn) n.605G>A c.133G>A (p.Asp45Asn) c.283G>A (p.Asp95Asn) n.448+446G>A c.226+446G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133532180G>C | CA378835261 | CYP2E1 | c.544G>C (p.Asp182His) n.605G>C c.133G>C (p.Asp45His) c.283G>C (p.Asp95His) n.448+446G>C c.226+446G>C | |
| 10 | g.133532180G= | CA1946830234 | CYP2E1 | c.544G= (p.Asp182=) n.605G= c.133G= (p.Asp45=) c.283G= (p.Asp95=) n.448+446G= c.226+446G= | |
| 10 | g.133532180G>T | CA378835263 | CYP2E1 | c.544G>T (p.Asp182Tyr) n.605G>T c.133G>T (p.Asp45Tyr) c.283G>T (p.Asp95Tyr) n.448+446G>T c.226+446G>T | |
| 10 | g.133532181A= | CA1946830237 | CYP2E1 | c.545A= (p.Asp182=) n.606A= c.134A= (p.Asp45=) c.284A= (p.Asp95=) n.448+447A= c.226+447A= | |
| 10 | g.133532181A>C | CA378835266 | CYP2E1 | c.545A>C (p.Asp182Ala) n.606A>C c.134A>C (p.Asp45Ala) c.284A>C (p.Asp95Ala) n.448+447A>C c.226+447A>C | |
| 10 | g.133532181A>G | CA378835270 | CYP2E1 | c.545A>G (p.Asp182Gly) n.606A>G c.134A>G (p.Asp45Gly) c.284A>G (p.Asp95Gly) n.448+447A>G c.226+447A>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.133532181A>T | CA378835273 | CYP2E1 | c.545A>T (p.Asp182Val) n.606A>T c.134A>T (p.Asp45Val) c.284A>T (p.Asp95Val) n.448+447A>T c.226+447A>T | gnomAD v4 |
| 10 | g.133532182C>A | CA378835285 | CYP2E1 | c.546C>A (p.Asp182Glu) n.607C>A c.135C>A (p.Asp45Glu) c.285C>A (p.Asp95Glu) n.448+448C>A c.226+448C>A | |
| 10 | g.133532182C= | CA1946830247 | CYP2E1 | c.546C= (p.Asp182=) n.607C= c.135C= (p.Asp45=) c.285C= (p.Asp95=) n.448+448C= c.226+448C= | |
| 10 | g.133532182C>G | CA378835287 | CYP2E1 | c.546C>G (p.Asp182Glu) n.607C>G c.135C>G (p.Asp45Glu) c.285C>G (p.Asp95Glu) n.448+448C>G c.226+448C>G | |
| 10 | g.133532182C>T | CA472245013 | CYP2E1 | c.546C>T (p.Asp182=) n.607C>T c.135C>T (p.Asp45=) c.285C>T (p.Asp95=) n.448+448C>T c.226+448C>T | dbSNP |
| 10 | g.133532183A>C | CA378835290 | CYP2E1 | c.547A>C (p.Ile183Leu) n.608A>C c.136A>C (p.Ile46Leu) c.286A>C (p.Ile96Leu) n.448+449A>C c.226+449A>C | |
| 10 | g.133532183A>G | CA378835292 | CYP2E1 | c.547A>G (p.Ile183Val) n.608A>G c.136A>G (p.Ile46Val) c.286A>G (p.Ile96Val) n.448+449A>G c.226+449A>G | |
| 10 | g.133532183A>T | CA378835291 | CYP2E1 | c.547A>T (p.Ile183Phe) n.608A>T c.136A>T (p.Ile46Phe) c.286A>T (p.Ile96Phe) n.448+449A>T c.226+449A>T | |
| 10 | g.133532184T>A | CA378835293 | CYP2E1 | c.548T>A (p.Ile183Asn) n.609T>A c.137T>A (p.Ile46Asn) c.287T>A (p.Ile96Asn) n.448+450T>A c.226+450T>A | |
| 10 | g.133532184T>C | CA378835294 | CYP2E1 | c.548T>C (p.Ile183Thr) n.609T>C c.137T>C (p.Ile46Thr) c.287T>C (p.Ile96Thr) n.448+450T>C c.226+450T>C | dbSNP gnomAD v2 |
| 10 | g.133532184T>G | CA378835295 | CYP2E1 | c.548T>G (p.Ile183Ser) n.609T>G c.137T>G (p.Ile46Ser) c.287T>G (p.Ile96Ser) n.448+450T>G c.226+450T>G | |
| 10 | g.133532184T= | CA1946830249 | CYP2E1 | c.548T= (p.Ile183=) n.609T= c.137T= (p.Ile46=) c.287T= (p.Ile96=) n.448+450T= c.226+450T= | |
| 10 | g.133532185C>A | CA472245033 | CYP2E1 | c.549C>A (p.Ile183=) n.610C>A c.138C>A (p.Ile46=) c.288C>A (p.Ile96=) n.448+451C>A c.226+451C>A | |
| 10 | g.133532185C>G | CA378835297 | CYP2E1 | c.549C>G (p.Ile183Met) n.610C>G c.138C>G (p.Ile46Met) c.288C>G (p.Ile96Met) n.448+451C>G c.226+451C>G | COSMIC |
| 10 | g.133532185C>T | CA472245038 | CYP2E1 | c.549C>T (p.Ile183=) n.610C>T c.138C>T (p.Ile46=) c.288C>T (p.Ile96=) n.448+451C>T c.226+451C>T | |
| 10 | g.133532186C>A | CA378835300 | CYP2E1 | c.550C>A (p.Leu184Ile) n.611C>A c.139C>A (p.Leu47Ile) c.289C>A (p.Leu97Ile) n.448+452C>A c.226+452C>A | |
| 10 | g.133532186C>G | CA378835303 | CYP2E1 | c.550C>G (p.Leu184Val) n.611C>G c.139C>G (p.Leu47Val) c.289C>G (p.Leu97Val) n.448+452C>G c.226+452C>G | gnomAD v4 |
| 10 | g.133532186C>T | CA378835307 | CYP2E1 | c.550C>T (p.Leu184Phe) n.611C>T c.139C>T (p.Leu47Phe) c.289C>T (p.Leu97Phe) n.448+452C>T c.226+452C>T | COSMIC |
| 10 | g.133532187T>A | CA378835308 | CYP2E1 | c.551T>A (p.Leu184His) n.612T>A c.140T>A (p.Leu47His) c.290T>A (p.Leu97His) n.448+453T>A c.226+453T>A | |
| 10 | g.133532187T>C | CA378835309 | CYP2E1 | c.551T>C (p.Leu184Pro) n.612T>C c.140T>C (p.Leu47Pro) c.290T>C (p.Leu97Pro) n.448+453T>C c.226+453T>C | |
| 10 | g.133532187T>G | CA378835310 | CYP2E1 | c.551T>G (p.Leu184Arg) n.612T>G c.140T>G (p.Leu47Arg) c.290T>G (p.Leu97Arg) n.448+453T>G c.226+453T>G | |
| 10 | g.133532188C>A | CA472245054 | CYP2E1 | c.552C>A (p.Leu184=) n.613C>A c.141C>A (p.Leu47=) c.291C>A (p.Leu97=) n.448+454C>A c.226+454C>A | |
| 10 | g.133532188C>G | CA472245055 | CYP2E1 | c.552C>G (p.Leu184=) n.613C>G c.141C>G (p.Leu47=) c.291C>G (p.Leu97=) n.448+454C>G c.226+454C>G | |
| 10 | g.133532188C>T | CA472245056 | CYP2E1 | c.552C>T (p.Leu184=) n.613C>T c.141C>T (p.Leu47=) c.291C>T (p.Leu97=) n.448+454C>T c.226+454C>T | gnomAD v4 |
| 10 | g.133532189T>A | CA378835314 | CYP2E1 | c.553T>A (p.Phe185Ile) n.614T>A c.142T>A (p.Phe48Ile) c.292T>A (p.Phe98Ile) n.448+455T>A c.226+455T>A | |
| 10 | g.133532189T>C | CA378835312 | CYP2E1 | c.553T>C (p.Phe185Leu) n.614T>C c.142T>C (p.Phe48Leu) c.292T>C (p.Phe98Leu) n.448+455T>C c.226+455T>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.133532189T>G | CA378835311 | CYP2E1 | c.553T>G (p.Phe185Val) n.614T>G c.142T>G (p.Phe48Val) c.292T>G (p.Phe98Val) n.448+455T>G c.226+455T>G | |
| 10 | g.133532189T= | CA1946830252 | CYP2E1 | c.553T= (p.Phe185=) n.614T= c.142T= (p.Phe48=) c.292T= (p.Phe98=) n.448+455T= c.226+455T= | |
| 10 | g.133532190T>A | CA378835317 | CYP2E1 | c.554T>A (p.Phe185Tyr) n.615T>A c.143T>A (p.Phe48Tyr) c.293T>A (p.Phe98Tyr) n.448+456T>A c.226+456T>A |