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.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 | |
| 10 | g.133532190T>C | CA378835319 | CYP2E1 | c.554T>C (p.Phe185Ser) n.615T>C c.143T>C (p.Phe48Ser) c.293T>C (p.Phe98Ser) n.448+456T>C c.226+456T>C | gnomAD v4 |
| 10 | g.133532190T>G | CA378835322 | CYP2E1 | c.554T>G (p.Phe185Cys) n.615T>G c.143T>G (p.Phe48Cys) c.293T>G (p.Phe98Cys) n.448+456T>G c.226+456T>G | |
| 10 | g.133532191C>A | CA378835323 | CYP2E1 | c.555C>A (p.Phe185Leu) n.616C>A c.144C>A (p.Phe48Leu) c.294C>A (p.Phe98Leu) n.448+457C>A c.226+457C>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.133532191C= | CA1946830257 | CYP2E1 | c.555C= (p.Phe185=) n.616C= c.144C= (p.Phe48=) c.294C= (p.Phe98=) n.448+457C= c.226+457C= | |
| 10 | g.133532191C>G | CA378835324 | CYP2E1 | c.555C>G (p.Phe185Leu) n.616C>G c.144C>G (p.Phe48Leu) c.294C>G (p.Phe98Leu) n.448+457C>G c.226+457C>G | |
| 10 | g.133532191C>T | CA472245071 | CYP2E1 | c.555C>T (p.Phe185=) n.616C>T c.144C>T (p.Phe48=) c.294C>T (p.Phe98=) n.448+457C>T c.226+457C>T | |
| 10 | g.133532192C>A | CA378835326 | CYP2E1 | c.556C>A (p.Arg186Ser) n.617C>A c.145C>A (p.Arg49Ser) c.295C>A (p.Arg99Ser) n.448+458C>A c.226+458C>A | |
| 10 | g.133532192C= | CA1946830264 | CYP2E1 | c.556C= (p.Arg186=) n.617C= c.145C= (p.Arg49=) c.295C= (p.Arg99=) n.448+458C= c.226+458C= | |
| 10 | g.133532192C>G | CA378835325 | CYP2E1 | c.556C>G (p.Arg186Gly) n.617C>G c.145C>G (p.Arg49Gly) c.295C>G (p.Arg99Gly) n.448+458C>G c.226+458C>G | gnomAD v4 |
| 10 | g.133532192C>T | CA5767629 | CYP2E1 | c.556C>T (p.Arg186Cys) n.617C>T c.145C>T (p.Arg49Cys) c.295C>T (p.Arg99Cys) n.448+458C>T c.226+458C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133532193G>A | CA5767630 | CYP2E1 | c.557G>A (p.Arg186His) n.618G>A c.146G>A (p.Arg49His) c.296G>A (p.Arg99His) n.448+459G>A c.226+459G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.133532193G>C | CA378835332 | CYP2E1 | c.557G>C (p.Arg186Pro) n.618G>C c.146G>C (p.Arg49Pro) c.296G>C (p.Arg99Pro) n.448+459G>C c.226+459G>C | |
| 10 | g.133532193G= | CA1946830270 | CYP2E1 | c.557G= (p.Arg186=) n.618G= c.146G= (p.Arg49=) c.296G= (p.Arg99=) n.448+459G= c.226+459G= | |
| 10 | g.133532193G>T | CA378835335 | CYP2E1 | c.557G>T (p.Arg186Leu) n.618G>T c.146G>T (p.Arg49Leu) c.296G>T (p.Arg99Leu) n.448+459G>T c.226+459G>T | gnomAD v4 COSMIC |
| 10 | g.133532194C>A | CA472245097 | CYP2E1 | c.558C>A (p.Arg186=) n.619C>A c.147C>A (p.Arg49=) c.297C>A (p.Arg99=) n.448+460C>A c.226+460C>A | |
| 10 | g.133532194C>G | CA472245104 | CYP2E1 | c.558C>G (p.Arg186=) n.619C>G c.147C>G (p.Arg49=) c.297C>G (p.Arg99=) n.448+460C>G c.226+460C>G | |
| 10 | g.133532194C>T | CA472245106 | CYP2E1 | c.558C>T (p.Arg186=) n.619C>T c.147C>T (p.Arg49=) c.297C>T (p.Arg99=) n.448+460C>T c.226+460C>T | |
| 10 | g.133532195A= | CA1946830275 | CYP2E1 | c.559A= (p.Lys187=) n.620A= c.148A= (p.Lys50=) c.298A= (p.Lys100=) n.448+461A= c.226+461A= | |
| 10 | g.133532195A>C | CA378835339 | CYP2E1 | c.559A>C (p.Lys187Gln) n.620A>C c.148A>C (p.Lys50Gln) c.298A>C (p.Lys100Gln) n.448+461A>C c.226+461A>C | |
| 10 | g.133532195A>G | CA378835340 | CYP2E1 | c.559A>G (p.Lys187Glu) n.620A>G c.148A>G (p.Lys50Glu) c.298A>G (p.Lys100Glu) n.448+461A>G c.226+461A>G | dbSNP gnomAD v4 |
| 10 | g.133532195A>T | CA378835341 | CYP2E1 | c.559A>T (p.Lys187Ter) n.620A>T c.148A>T (p.Lys50Ter) c.298A>T (p.Lys100Ter) n.448+461A>T c.226+461A>T | |
| 10 | g.133532196A>C | CA378835342 | CYP2E1 | c.560A>C (p.Lys187Thr) n.621A>C c.149A>C (p.Lys50Thr) c.299A>C (p.Lys100Thr) n.448+462A>C c.226+462A>C |