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.56859756G>A | CA359802397 | MAP3K1 | c.675G>A (p.Met225Ile) c.297G>A (p.Met99Ile) c.420G>A (p.Met140Ile) c.264G>A (p.Met88Ile) c.186G>A (p.Met62Ile) n.706G>A | COSMIC |
| 5 | g.56859756G>C | CA359802398 | MAP3K1 | c.675G>C (p.Met225Ile) c.297G>C (p.Met99Ile) c.420G>C (p.Met140Ile) c.264G>C (p.Met88Ile) c.186G>C (p.Met62Ile) n.706G>C | |
| 5 | g.56859756G= | CA1548129196 | MAP3K1 | c.675G= (p.Met225=) c.297G= (p.Met99=) c.420G= (p.Met140=) c.264G= (p.Met88=) c.186G= (p.Met62=) n.706G= | |
| 5 | g.56859756G>T | CA119520073 | MAP3K1 | c.675G>T (p.Met225Ile) c.297G>T (p.Met99Ile) c.420G>T (p.Met140Ile) c.264G>T (p.Met88Ile) c.186G>T (p.Met62Ile) n.706G>T | dbSNP gnomAD v4 |
| 5 | g.56859757A>C | CA359802399 | MAP3K1 | c.676A>C (p.Asn226His) c.298A>C (p.Asn100His) c.421A>C (p.Asn141His) c.265A>C (p.Asn89His) c.187A>C (p.Asn63His) n.707A>C | |
| 5 | g.56859757A>G | CA359802400 | MAP3K1 | c.676A>G (p.Asn226Asp) c.298A>G (p.Asn100Asp) c.421A>G (p.Asn141Asp) c.265A>G (p.Asn89Asp) c.187A>G (p.Asn63Asp) n.707A>G | gnomAD v4 |
| 5 | g.56859757A>T | CA359802401 | MAP3K1 | c.676A>T (p.Asn226Tyr) c.298A>T (p.Asn100Tyr) c.421A>T (p.Asn141Tyr) c.265A>T (p.Asn89Tyr) c.187A>T (p.Asn63Tyr) n.707A>T | |
| 5 | g.56859758A>C | CA359802402 | MAP3K1 | c.677A>C (p.Asn226Thr) c.299A>C (p.Asn100Thr) c.422A>C (p.Asn141Thr) c.266A>C (p.Asn89Thr) c.188A>C (p.Asn63Thr) n.708A>C | |
| 5 | g.56859758A>G | CA359802403 | MAP3K1 | c.677A>G (p.Asn226Ser) c.299A>G (p.Asn100Ser) c.422A>G (p.Asn141Ser) c.266A>G (p.Asn89Ser) c.188A>G (p.Asn63Ser) n.708A>G | |
| 5 | g.56859758A>T | CA359802404 | MAP3K1 | c.677A>T (p.Asn226Ile) c.299A>T (p.Asn100Ile) c.422A>T (p.Asn141Ile) c.266A>T (p.Asn89Ile) c.188A>T (p.Asn63Ile) n.708A>T | |
| 5 | g.56859759T>A | CA359802406 | MAP3K1 | c.678T>A (p.Asn226Lys) c.300T>A (p.Asn100Lys) c.423T>A (p.Asn141Lys) c.267T>A (p.Asn89Lys) c.189T>A (p.Asn63Lys) n.709T>A | |
| 5 | g.56859759T>C | CA444391636 | MAP3K1 | c.678T>C (p.Asn226=) c.300T>C (p.Asn100=) c.423T>C (p.Asn141=) c.267T>C (p.Asn89=) c.189T>C (p.Asn63=) n.709T>C | |
| 5 | g.56859759T>G | CA359802405 | MAP3K1 | c.678T>G (p.Asn226Lys) c.300T>G (p.Asn100Lys) c.423T>G (p.Asn141Lys) c.267T>G (p.Asn89Lys) c.189T>G (p.Asn63Lys) n.709T>G | |
| 5 | g.56859760C>A | CA359802407 | MAP3K1 | c.679C>A (p.His227Asn) c.301C>A (p.His101Asn) c.424C>A (p.His142Asn) c.268C>A (p.His90Asn) c.190C>A (p.His64Asn) n.710C>A | |
| 5 | g.56859760C>G | CA359802408 | MAP3K1 | c.679C>G (p.His227Asp) c.301C>G (p.His101Asp) c.424C>G (p.His142Asp) c.268C>G (p.His90Asp) c.190C>G (p.His64Asp) n.710C>G | |
| 5 | g.56859760C>T | CA359802409 | MAP3K1 | c.679C>T (p.His227Tyr) c.301C>T (p.His101Tyr) c.424C>T (p.His142Tyr) c.268C>T (p.His90Tyr) c.190C>T (p.His64Tyr) n.710C>T | |
| 5 | g.56859761A>C | CA359802410 | MAP3K1 | c.680A>C (p.His227Pro) c.302A>C (p.His101Pro) c.425A>C (p.His142Pro) c.269A>C (p.His90Pro) c.191A>C (p.His64Pro) n.711A>C | |
| 5 | g.56859761A>G | CA359802411 | MAP3K1 | c.680A>G (p.His227Arg) c.302A>G (p.His101Arg) c.425A>G (p.His142Arg) c.269A>G (p.His90Arg) c.191A>G (p.His64Arg) n.711A>G | |
| 5 | g.56859761A>T | CA359802412 | MAP3K1 | c.680A>T (p.His227Leu) c.302A>T (p.His101Leu) c.425A>T (p.His142Leu) c.269A>T (p.His90Leu) c.191A>T (p.His64Leu) n.711A>T | |
| 5 | g.56859762C>A | CA359802413 | MAP3K1 | c.681C>A (p.His227Gln) c.303C>A (p.His101Gln) c.426C>A (p.His142Gln) c.270C>A (p.His90Gln) c.192C>A (p.His64Gln) n.712C>A | |
| 5 | g.56859762C= | CA1548129197 | MAP3K1 | c.681C= (p.His227=) c.303C= (p.His101=) c.426C= (p.His142=) c.270C= (p.His90=) c.192C= (p.His64=) n.712C= | |
| 5 | g.56859762C>G | CA359802414 | MAP3K1 | c.681C>G (p.His227Gln) c.303C>G (p.His101Gln) c.426C>G (p.His142Gln) c.270C>G (p.His90Gln) c.192C>G (p.His64Gln) n.712C>G | |
| 5 | g.56859762C>T | CA3272587 | MAP3K1 | c.681C>T (p.His227=) c.303C>T (p.His101=) c.426C>T (p.His142=) c.270C>T (p.His90=) c.192C>T (p.His64=) n.712C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56859763T>A | CA359802415 | MAP3K1 | c.682T>A (p.Leu228Ile) c.304T>A (p.Leu102Ile) c.427T>A (p.Leu143Ile) c.271T>A (p.Leu91Ile) c.193T>A (p.Leu65Ile) n.713T>A | |
| 5 | g.56859763T>C | CA444391640 | MAP3K1 | c.682T>C (p.Leu228=) c.304T>C (p.Leu102=) c.427T>C (p.Leu143=) c.271T>C (p.Leu91=) c.193T>C (p.Leu65=) n.713T>C | |
| 5 | g.56859763T>G | CA359802416 | MAP3K1 | c.682T>G (p.Leu228Val) c.304T>G (p.Leu102Val) c.427T>G (p.Leu143Val) c.271T>G (p.Leu91Val) c.193T>G (p.Leu65Val) n.713T>G | |
| 5 | g.56859764T>A | CA359802419 | MAP3K1 | c.683T>A (p.Leu228Ter) c.305T>A (p.Leu102Ter) c.428T>A (p.Leu143Ter) c.272T>A (p.Leu91Ter) c.194T>A (p.Leu65Ter) n.714T>A | |
| 5 | g.56859764T>C | CA359802418 | MAP3K1 | c.683T>C (p.Leu228Ser) c.305T>C (p.Leu102Ser) c.428T>C (p.Leu143Ser) c.272T>C (p.Leu91Ser) c.194T>C (p.Leu65Ser) n.714T>C | |
| 5 | g.56859764T>G | CA359802417 | MAP3K1 | c.683T>G (p.Leu228Ter) c.305T>G (p.Leu102Ter) c.428T>G (p.Leu143Ter) c.272T>G (p.Leu91Ter) c.194T>G (p.Leu65Ter) n.714T>G | |
| 5 | g.56859765A>C | CA359802420 | MAP3K1 | c.684A>C (p.Leu228Phe) c.306A>C (p.Leu102Phe) c.429A>C (p.Leu143Phe) c.273A>C (p.Leu91Phe) c.195A>C (p.Leu65Phe) n.715A>C | |
| 5 | g.56859765A>G | CA444391641 | MAP3K1 | c.684A>G (p.Leu228=) c.306A>G (p.Leu102=) c.429A>G (p.Leu143=) c.273A>G (p.Leu91=) c.195A>G (p.Leu65=) n.715A>G | |
| 5 | g.56859765A>T | CA359802421 | MAP3K1 | c.684A>T (p.Leu228Phe) c.306A>T (p.Leu102Phe) c.429A>T (p.Leu143Phe) c.273A>T (p.Leu91Phe) c.195A>T (p.Leu65Phe) n.715A>T | |
| 5 | g.56859768_56859770del | CA2673908358 | MAP3K1 | c.687_689del (p.Ala230del) c.309_311del (p.Ala104del) c.432_434del (p.Ala145del) c.276_278del (p.Ala93del) c.198_200del (p.Ala67del) n.718_720del | gnomAD v4 |
| 5 | g.56859766G>A | CA359802422 | MAP3K1 | c.685G>A (p.Ala229Thr) c.307G>A (p.Ala103Thr) c.430G>A (p.Ala144Thr) c.274G>A (p.Ala92Thr) c.196G>A (p.Ala66Thr) n.716G>A | |
| 5 | g.56859766G>C | CA359802423 | MAP3K1 | c.685G>C (p.Ala229Pro) c.307G>C (p.Ala103Pro) c.430G>C (p.Ala144Pro) c.274G>C (p.Ala92Pro) c.196G>C (p.Ala66Pro) n.716G>C | gnomAD v4 |
| 5 | g.56859766G>T | CA359802424 | MAP3K1 | c.685G>T (p.Ala229Ser) c.307G>T (p.Ala103Ser) c.430G>T (p.Ala144Ser) c.274G>T (p.Ala92Ser) c.196G>T (p.Ala66Ser) n.716G>T | |
| 5 | g.56859767C>A | CA359802425 | MAP3K1 | c.686C>A (p.Ala229Glu) c.308C>A (p.Ala103Glu) c.431C>A (p.Ala144Glu) c.275C>A (p.Ala92Glu) c.197C>A (p.Ala66Glu) n.717C>A | |
| 5 | g.56859767C= | CA1548129198 | MAP3K1 | c.686C= (p.Ala229=) c.308C= (p.Ala103=) c.431C= (p.Ala144=) c.275C= (p.Ala92=) c.197C= (p.Ala66=) n.717C= | |
| 5 | g.56859767C>G | CA359802426 | MAP3K1 | c.686C>G (p.Ala229Gly) c.308C>G (p.Ala103Gly) c.431C>G (p.Ala144Gly) c.275C>G (p.Ala92Gly) c.197C>G (p.Ala66Gly) n.717C>G | |
| 5 | g.56859767C>T | CA359802427 | MAP3K1 | c.686C>T (p.Ala229Val) c.308C>T (p.Ala103Val) c.431C>T (p.Ala144Val) c.275C>T (p.Ala92Val) c.197C>T (p.Ala66Val) n.717C>T | dbSNP |
| 5 | g.56859768A>C | CA444391645 | MAP3K1 | c.687A>C (p.Ala229=) c.309A>C (p.Ala103=) c.432A>C (p.Ala144=) c.276A>C (p.Ala92=) c.198A>C (p.Ala66=) n.718A>C | |
| 5 | g.56859768A>G | CA444391644 | MAP3K1 | c.687A>G (p.Ala229=) c.309A>G (p.Ala103=) c.432A>G (p.Ala144=) c.276A>G (p.Ala92=) c.198A>G (p.Ala66=) n.718A>G | |
| 5 | g.56859768A>T | CA444391643 | MAP3K1 | c.687A>T (p.Ala229=) c.309A>T (p.Ala103=) c.432A>T (p.Ala144=) c.276A>T (p.Ala92=) c.198A>T (p.Ala66=) n.718A>T | |
| 5 | g.56859769G>A | CA359802428 | MAP3K1 | c.688G>A (p.Ala230Thr) c.310G>A (p.Ala104Thr) c.433G>A (p.Ala145Thr) c.277G>A (p.Ala93Thr) c.199G>A (p.Ala67Thr) n.719G>A | gnomAD v4 |
| 5 | g.56859769G>C | CA359802429 | MAP3K1 | c.688G>C (p.Ala230Pro) c.310G>C (p.Ala104Pro) c.433G>C (p.Ala145Pro) c.277G>C (p.Ala93Pro) c.199G>C (p.Ala67Pro) n.719G>C | dbSNP |
| 5 | g.56859769G>T | CA359802430 | MAP3K1 | c.688G>T (p.Ala230Ser) c.310G>T (p.Ala104Ser) c.433G>T (p.Ala145Ser) c.277G>T (p.Ala93Ser) c.199G>T (p.Ala67Ser) n.719G>T | |
| 5 | g.56859770C>A | CA359802431 | MAP3K1 | c.689C>A (p.Ala230Asp) c.311C>A (p.Ala104Asp) c.434C>A (p.Ala145Asp) c.278C>A (p.Ala93Asp) c.200C>A (p.Ala67Asp) n.720C>A | dbSNP |
| 5 | g.56859770C= | CA1548129199 | MAP3K1 | c.689C= (p.Ala230=) c.311C= (p.Ala104=) c.434C= (p.Ala145=) c.278C= (p.Ala93=) c.200C= (p.Ala67=) n.720C= | |
| 5 | g.56859770C>G | CA119520075 | MAP3K1 | c.689C>G (p.Ala230Gly) c.311C>G (p.Ala104Gly) c.434C>G (p.Ala145Gly) c.278C>G (p.Ala93Gly) c.200C>G (p.Ala67Gly) n.720C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56859770C>T | CA359802432 | MAP3K1 | c.689C>T (p.Ala230Val) c.311C>T (p.Ala104Val) c.434C>T (p.Ala145Val) c.278C>T (p.Ala93Val) c.200C>T (p.Ala67Val) n.720C>T | gnomAD v4 |