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 |
|---|---|---|---|---|---|
| 16 | g.3728000_3728017dup | CA720733019 | CREBBP | c.7031_7048dup (p.Val2349_Gln2350insArgSerProAlaProVal) c.6917_6934dup (p.Val2311_Gln2312insArgSerProAlaProVal) c.6986_7003dup (p.Val2334_Gln2335insArgSerProAlaProVal) c.6614_6631dup (p.Val2210_Gln2211insArgSerProAlaProVal) c.6770_6787dup (p.Val2262_Gln2263insArgSerProAlaProVal) c.6977_6994dup (p.Val2331_Gln2332insArgSerProAlaProVal) c.6278_6295dup (p.Val2098_Gln2099insArgSerProAlaProVal) c.7025_7042dup (p.Val2347_Gln2348insArgSerProAlaProVal) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3728007G>A | CA171806 | CREBBP | c.7040C>T (p.Ala2347Val) c.6926C>T (p.Ala2309Val) c.6995C>T (p.Ala2332Val) c.6623C>T (p.Ala2208Val) c.6779C>T (p.Ala2260Val) c.6986C>T (p.Ala2329Val) c.6287C>T (p.Ala2096Val) c.7034C>T (p.Ala2345Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3728007G>C | CA394550719 | CREBBP | c.7040C>G (p.Ala2347Gly) c.6926C>G (p.Ala2309Gly) c.6995C>G (p.Ala2332Gly) c.6623C>G (p.Ala2208Gly) c.6779C>G (p.Ala2260Gly) c.6986C>G (p.Ala2329Gly) c.6287C>G (p.Ala2096Gly) c.7034C>G (p.Ala2345Gly) | dbSNP |
| 16 | g.3728007G= | CA2202928442 | CREBBP | c.7040C= (p.Ala2347=) c.6926C= (p.Ala2309=) c.6995C= (p.Ala2332=) c.6623C= (p.Ala2208=) c.6779C= (p.Ala2260=) c.6986C= (p.Ala2329=) c.6287C= (p.Ala2096=) c.7034C= (p.Ala2345=) | |
| 16 | g.3728007G>T | CA394550721 | CREBBP | c.7040C>A (p.Ala2347Asp) c.6926C>A (p.Ala2309Asp) c.6995C>A (p.Ala2332Asp) c.6623C>A (p.Ala2208Asp) c.6779C>A (p.Ala2260Asp) c.6986C>A (p.Ala2329Asp) c.6287C>A (p.Ala2096Asp) c.7034C>A (p.Ala2345Asp) | |
| 16 | g.3728008C>A | CA394550723 | CREBBP | c.7039G>T (p.Ala2347Ser) c.6925G>T (p.Ala2309Ser) c.6994G>T (p.Ala2332Ser) c.6622G>T (p.Ala2208Ser) c.6778G>T (p.Ala2260Ser) c.6985G>T (p.Ala2329Ser) c.6286G>T (p.Ala2096Ser) c.7033G>T (p.Ala2345Ser) | dbSNP gnomAD v4 |
| 16 | g.3728008C>G | CA394550725 | CREBBP | c.7039G>C (p.Ala2347Pro) c.6925G>C (p.Ala2309Pro) c.6994G>C (p.Ala2332Pro) c.6622G>C (p.Ala2208Pro) c.6778G>C (p.Ala2260Pro) c.6985G>C (p.Ala2329Pro) c.6286G>C (p.Ala2096Pro) c.7033G>C (p.Ala2345Pro) | dbSNP |
| 16 | g.3728008C>T | CA394550727 | CREBBP | c.7039G>A (p.Ala2347Thr) c.6925G>A (p.Ala2309Thr) c.6994G>A (p.Ala2332Thr) c.6622G>A (p.Ala2208Thr) c.6778G>A (p.Ala2260Thr) c.6985G>A (p.Ala2329Thr) c.6286G>A (p.Ala2096Thr) c.7033G>A (p.Ala2345Thr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3728009T>A | CA493393434 | CREBBP | c.7038A>T (p.Pro2346=) c.6924A>T (p.Pro2308=) c.6993A>T (p.Pro2331=) c.6621A>T (p.Pro2207=) c.6777A>T (p.Pro2259=) c.6984A>T (p.Pro2328=) c.6285A>T (p.Pro2095=) c.7032A>T (p.Pro2344=) | |
| 16 | g.3728009T>C | CA493393436 | CREBBP | c.7038A>G (p.Pro2346=) c.6924A>G (p.Pro2308=) c.6993A>G (p.Pro2331=) c.6621A>G (p.Pro2207=) c.6777A>G (p.Pro2259=) c.6984A>G (p.Pro2328=) c.6285A>G (p.Pro2095=) c.7032A>G (p.Pro2344=) | dbSNP |
| 16 | g.3728009T>G | CA493393438 | CREBBP | c.7038A>C (p.Pro2346=) c.6924A>C (p.Pro2308=) c.6993A>C (p.Pro2331=) c.6621A>C (p.Pro2207=) c.6777A>C (p.Pro2259=) c.6984A>C (p.Pro2328=) c.6285A>C (p.Pro2095=) c.7032A>C (p.Pro2344=) | |
| 16 | g.3728010G>A | CA394550729 | CREBBP | c.7037C>T (p.Pro2346Leu) c.6923C>T (p.Pro2308Leu) c.6992C>T (p.Pro2331Leu) c.6620C>T (p.Pro2207Leu) c.6776C>T (p.Pro2259Leu) c.6983C>T (p.Pro2328Leu) c.6284C>T (p.Pro2095Leu) c.7031C>T (p.Pro2344Leu) | dbSNP COSMIC |
| 16 | g.3728010G>C | CA394550731 | CREBBP | c.7037C>G (p.Pro2346Arg) c.6923C>G (p.Pro2308Arg) c.6992C>G (p.Pro2331Arg) c.6620C>G (p.Pro2207Arg) c.6776C>G (p.Pro2259Arg) c.6983C>G (p.Pro2328Arg) c.6284C>G (p.Pro2095Arg) c.7031C>G (p.Pro2344Arg) | dbSNP |
| 16 | g.3728010G>T | CA394550733 | CREBBP | c.7037C>A (p.Pro2346Gln) c.6923C>A (p.Pro2308Gln) c.6992C>A (p.Pro2331Gln) c.6620C>A (p.Pro2207Gln) c.6776C>A (p.Pro2259Gln) c.6983C>A (p.Pro2328Gln) c.6284C>A (p.Pro2095Gln) c.7031C>A (p.Pro2344Gln) | dbSNP |
| 16 | g.3728011G>A | CA394550739 | CREBBP | c.7036C>T (p.Pro2346Ser) c.6922C>T (p.Pro2308Ser) c.6991C>T (p.Pro2331Ser) c.6619C>T (p.Pro2207Ser) c.6775C>T (p.Pro2259Ser) c.6982C>T (p.Pro2328Ser) c.6283C>T (p.Pro2095Ser) c.7030C>T (p.Pro2344Ser) | dbSNP |
| 16 | g.3728011G>C | CA394550737 | CREBBP | c.7036C>G (p.Pro2346Ala) c.6922C>G (p.Pro2308Ala) c.6991C>G (p.Pro2331Ala) c.6619C>G (p.Pro2207Ala) c.6775C>G (p.Pro2259Ala) c.6982C>G (p.Pro2328Ala) c.6283C>G (p.Pro2095Ala) c.7030C>G (p.Pro2344Ala) | dbSNP |
| 16 | g.3728011G>T | CA394550735 | CREBBP | c.7036C>A (p.Pro2346Thr) c.6922C>A (p.Pro2308Thr) c.6991C>A (p.Pro2331Thr) c.6619C>A (p.Pro2207Thr) c.6775C>A (p.Pro2259Thr) c.6982C>A (p.Pro2328Thr) c.6283C>A (p.Pro2095Thr) c.7030C>A (p.Pro2344Thr) | |
| 16 | g.3728012A>C | CA493393445 | CREBBP | c.7035T>G (p.Ser2345=) c.6921T>G (p.Ser2307=) c.6990T>G (p.Ser2330=) c.6618T>G (p.Ser2206=) c.6774T>G (p.Ser2258=) c.6981T>G (p.Ser2327=) c.6282T>G (p.Ser2094=) c.7029T>G (p.Ser2343=) | gnomAD v4 |
| 16 | g.3728012A>G | CA493393447 | CREBBP | c.7035T>C (p.Ser2345=) c.6921T>C (p.Ser2307=) c.6990T>C (p.Ser2330=) c.6618T>C (p.Ser2206=) c.6774T>C (p.Ser2258=) c.6981T>C (p.Ser2327=) c.6282T>C (p.Ser2094=) c.7029T>C (p.Ser2343=) | dbSNP |
| 16 | g.3728012A>T | CA493393449 | CREBBP | c.7035T>A (p.Ser2345=) c.6921T>A (p.Ser2307=) c.6990T>A (p.Ser2330=) c.6618T>A (p.Ser2206=) c.6774T>A (p.Ser2258=) c.6981T>A (p.Ser2327=) c.6282T>A (p.Ser2094=) c.7029T>A (p.Ser2343=) | dbSNP |
| 16 | g.3728013G>A | CA394550741 | CREBBP | c.7034C>T (p.Ser2345Phe) c.6920C>T (p.Ser2307Phe) c.6989C>T (p.Ser2330Phe) c.6617C>T (p.Ser2206Phe) c.6773C>T (p.Ser2258Phe) c.6980C>T (p.Ser2327Phe) c.6281C>T (p.Ser2094Phe) c.7028C>T (p.Ser2343Phe) | dbSNP |
| 16 | g.3728013G>C | CA394550743 | CREBBP | c.7034C>G (p.Ser2345Cys) c.6920C>G (p.Ser2307Cys) c.6989C>G (p.Ser2330Cys) c.6617C>G (p.Ser2206Cys) c.6773C>G (p.Ser2258Cys) c.6980C>G (p.Ser2327Cys) c.6281C>G (p.Ser2094Cys) c.7028C>G (p.Ser2343Cys) | dbSNP |
| 16 | g.3728013G>T | CA394550744 | CREBBP | c.7034C>A (p.Ser2345Tyr) c.6920C>A (p.Ser2307Tyr) c.6989C>A (p.Ser2330Tyr) c.6617C>A (p.Ser2206Tyr) c.6773C>A (p.Ser2258Tyr) c.6980C>A (p.Ser2327Tyr) c.6281C>A (p.Ser2094Tyr) c.7028C>A (p.Ser2343Tyr) | dbSNP |
| 16 | g.3728014A>C | CA394550746 | CREBBP | c.7033T>G (p.Ser2345Ala) c.6919T>G (p.Ser2307Ala) c.6988T>G (p.Ser2330Ala) c.6616T>G (p.Ser2206Ala) c.6772T>G (p.Ser2258Ala) c.6979T>G (p.Ser2327Ala) c.6280T>G (p.Ser2094Ala) c.7027T>G (p.Ser2343Ala) | dbSNP |
| 16 | g.3728014A>G | CA394550748 | CREBBP | c.7033T>C (p.Ser2345Pro) c.6919T>C (p.Ser2307Pro) c.6988T>C (p.Ser2330Pro) c.6616T>C (p.Ser2206Pro) c.6772T>C (p.Ser2258Pro) c.6979T>C (p.Ser2327Pro) c.6280T>C (p.Ser2094Pro) c.7027T>C (p.Ser2343Pro) | dbSNP |
| 16 | g.3728014A>T | CA394550750 | CREBBP | c.7033T>A (p.Ser2345Thr) c.6919T>A (p.Ser2307Thr) c.6988T>A (p.Ser2330Thr) c.6616T>A (p.Ser2206Thr) c.6772T>A (p.Ser2258Thr) c.6979T>A (p.Ser2327Thr) c.6280T>A (p.Ser2094Thr) c.7027T>A (p.Ser2343Thr) | dbSNP |
| 16 | g.3728015C>A | CA493393453 | CREBBP | c.7032G>T (p.Arg2344=) c.6918G>T (p.Arg2306=) c.6987G>T (p.Arg2329=) c.6615G>T (p.Arg2205=) c.6771G>T (p.Arg2257=) c.6978G>T (p.Arg2326=) c.6279G>T (p.Arg2093=) c.7026G>T (p.Arg2342=) | dbSNP |
| 16 | g.3728015C>G | CA493393456 | CREBBP | c.7032G>C (p.Arg2344=) c.6918G>C (p.Arg2306=) c.6987G>C (p.Arg2329=) c.6615G>C (p.Arg2205=) c.6771G>C (p.Arg2257=) c.6978G>C (p.Arg2326=) c.6279G>C (p.Arg2093=) c.7026G>C (p.Arg2342=) | dbSNP |
| 16 | g.3728015C>T | CA493393455 | CREBBP | c.7032G>A (p.Arg2344=) c.6918G>A (p.Arg2306=) c.6987G>A (p.Arg2329=) c.6615G>A (p.Arg2205=) c.6771G>A (p.Arg2257=) c.6978G>A (p.Arg2326=) c.6279G>A (p.Arg2093=) c.7026G>A (p.Arg2342=) | dbSNP COSMIC |
| 16 | g.3728016C>A | CA394550752 | CREBBP | c.7031G>T (p.Arg2344Leu) c.6917G>T (p.Arg2306Leu) c.6986G>T (p.Arg2329Leu) c.6614G>T (p.Arg2205Leu) c.6770G>T (p.Arg2257Leu) c.6977G>T (p.Arg2326Leu) c.6278G>T (p.Arg2093Leu) c.7025G>T (p.Arg2342Leu) | |
| 16 | g.3728016C= | CA2202928443 | CREBBP | c.7031G= (p.Arg2344=) c.6917G= (p.Arg2306=) c.6986G= (p.Arg2329=) c.6614G= (p.Arg2205=) c.6770G= (p.Arg2257=) c.6977G= (p.Arg2326=) c.6278G= (p.Arg2093=) c.7025G= (p.Arg2342=) | |
| 16 | g.3728016C>G | CA394550753 | CREBBP | c.7031G>C (p.Arg2344Pro) c.6917G>C (p.Arg2306Pro) c.6986G>C (p.Arg2329Pro) c.6614G>C (p.Arg2205Pro) c.6770G>C (p.Arg2257Pro) c.6977G>C (p.Arg2326Pro) c.6278G>C (p.Arg2093Pro) c.7025G>C (p.Arg2342Pro) | |
| 16 | g.3728016C>T | CA7868960 | CREBBP | c.7031G>A (p.Arg2344Gln) c.6917G>A (p.Arg2306Gln) c.6986G>A (p.Arg2329Gln) c.6614G>A (p.Arg2205Gln) c.6770G>A (p.Arg2257Gln) c.6977G>A (p.Arg2326Gln) c.6278G>A (p.Arg2093Gln) c.7025G>A (p.Arg2342Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3728017G>A | CA394550755 | CREBBP | c.7030C>T (p.Arg2344Trp) c.6916C>T (p.Arg2306Trp) c.6985C>T (p.Arg2329Trp) c.6613C>T (p.Arg2205Trp) c.6769C>T (p.Arg2257Trp) c.6976C>T (p.Arg2326Trp) c.6277C>T (p.Arg2093Trp) c.7024C>T (p.Arg2342Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3728017G>C | CA394550757 | CREBBP | c.7030C>G (p.Arg2344Gly) c.6916C>G (p.Arg2306Gly) c.6985C>G (p.Arg2329Gly) c.6613C>G (p.Arg2205Gly) c.6769C>G (p.Arg2257Gly) c.6976C>G (p.Arg2326Gly) c.6277C>G (p.Arg2093Gly) c.7024C>G (p.Arg2342Gly) | |
| 16 | g.3728017G= | CA2202928444 | CREBBP | c.7030C= (p.Arg2344=) c.6916C= (p.Arg2306=) c.6985C= (p.Arg2329=) c.6613C= (p.Arg2205=) c.6769C= (p.Arg2257=) c.6976C= (p.Arg2326=) c.6277C= (p.Arg2093=) c.7024C= (p.Arg2342=) | |
| 16 | g.3728017G>T | CA493393458 | CREBBP | c.7030C>A (p.Arg2344=) c.6916C>A (p.Arg2306=) c.6985C>A (p.Arg2329=) c.6613C>A (p.Arg2205=) c.6769C>A (p.Arg2257=) c.6976C>A (p.Arg2326=) c.6277C>A (p.Arg2093=) c.7024C>A (p.Arg2342=) | gnomAD v4 |
| 16 | g.3728018C>A | CA493393462 | CREBBP | c.7029G>T (p.Val2343=) c.6915G>T (p.Val2305=) c.6984G>T (p.Val2328=) c.6612G>T (p.Val2204=) c.6768G>T (p.Val2256=) c.6975G>T (p.Val2325=) c.6276G>T (p.Val2092=) c.7023G>T (p.Val2341=) | dbSNP |
| 16 | g.3728018C>G | CA493393463 | CREBBP | c.7029G>C (p.Val2343=) c.6915G>C (p.Val2305=) c.6984G>C (p.Val2328=) c.6612G>C (p.Val2204=) c.6768G>C (p.Val2256=) c.6975G>C (p.Val2325=) c.6276G>C (p.Val2092=) c.7023G>C (p.Val2341=) | dbSNP |
| 16 | g.3728018C>T | CA493393464 | CREBBP | c.7029G>A (p.Val2343=) c.6915G>A (p.Val2305=) c.6984G>A (p.Val2328=) c.6612G>A (p.Val2204=) c.6768G>A (p.Val2256=) c.6975G>A (p.Val2325=) c.6276G>A (p.Val2092=) c.7023G>A (p.Val2341=) | dbSNP |
| 16 | g.3728019A= | CA2202928445 | CREBBP | c.7028T= (p.Val2343=) c.6914T= (p.Val2305=) c.6983T= (p.Val2328=) c.6611T= (p.Val2204=) c.6767T= (p.Val2256=) c.6974T= (p.Val2325=) c.6275T= (p.Val2092=) c.7022T= (p.Val2341=) | |
| 16 | g.3728019A>C | CA394550759 | CREBBP | c.7028T>G (p.Val2343Gly) c.6914T>G (p.Val2305Gly) c.6983T>G (p.Val2328Gly) c.6611T>G (p.Val2204Gly) c.6767T>G (p.Val2256Gly) c.6974T>G (p.Val2325Gly) c.6275T>G (p.Val2092Gly) c.7022T>G (p.Val2341Gly) | dbSNP |
| 16 | g.3728019A>G | CA276971124 | CREBBP | c.7028T>C (p.Val2343Ala) c.6914T>C (p.Val2305Ala) c.6983T>C (p.Val2328Ala) c.6611T>C (p.Val2204Ala) c.6767T>C (p.Val2256Ala) c.6974T>C (p.Val2325Ala) c.6275T>C (p.Val2092Ala) c.7022T>C (p.Val2341Ala) | dbSNP |
| 16 | g.3728019A>T | CA394550762 | CREBBP | c.7028T>A (p.Val2343Glu) c.6914T>A (p.Val2305Glu) c.6983T>A (p.Val2328Glu) c.6611T>A (p.Val2204Glu) c.6767T>A (p.Val2256Glu) c.6974T>A (p.Val2325Glu) c.6275T>A (p.Val2092Glu) c.7022T>A (p.Val2341Glu) | dbSNP |
| 16 | g.3728020C>A | CA394550766 | CREBBP | c.7027G>T (p.Val2343Leu) c.6913G>T (p.Val2305Leu) c.6982G>T (p.Val2328Leu) c.6610G>T (p.Val2204Leu) c.6766G>T (p.Val2256Leu) c.6973G>T (p.Val2325Leu) c.6274G>T (p.Val2092Leu) c.7021G>T (p.Val2341Leu) | dbSNP |
| 16 | g.3728020C>G | CA394550768 | CREBBP | c.7027G>C (p.Val2343Leu) c.6913G>C (p.Val2305Leu) c.6982G>C (p.Val2328Leu) c.6610G>C (p.Val2204Leu) c.6766G>C (p.Val2256Leu) c.6973G>C (p.Val2325Leu) c.6274G>C (p.Val2092Leu) c.7021G>C (p.Val2341Leu) | dbSNP |
| 16 | g.3728020C>T | CA394550764 | CREBBP | c.7027G>A (p.Val2343Met) c.6913G>A (p.Val2305Met) c.6982G>A (p.Val2328Met) c.6610G>A (p.Val2204Met) c.6766G>A (p.Val2256Met) c.6973G>A (p.Val2325Met) c.6274G>A (p.Val2092Met) c.7021G>A (p.Val2341Met) | dbSNP |
| 16 | g.3728021C>A | CA394550770 | CREBBP | c.7026G>T (p.Gln2342His) c.6912G>T (p.Gln2304His) c.6981G>T (p.Gln2327His) c.6609G>T (p.Gln2203His) c.6765G>T (p.Gln2255His) c.6972G>T (p.Gln2324His) c.6273G>T (p.Gln2091His) c.7020G>T (p.Gln2340His) | |
| 16 | g.3728021C= | CA2202928446 | CREBBP | c.7026G= (p.Gln2342=) c.6912G= (p.Gln2304=) c.6981G= (p.Gln2327=) c.6609G= (p.Gln2203=) c.6765G= (p.Gln2255=) c.6972G= (p.Gln2324=) c.6273G= (p.Gln2091=) c.7020G= (p.Gln2340=) | |
| 16 | g.3728021C>G | CA394550772 | CREBBP | c.7026G>C (p.Gln2342His) c.6912G>C (p.Gln2304His) c.6981G>C (p.Gln2327His) c.6609G>C (p.Gln2203His) c.6765G>C (p.Gln2255His) c.6972G>C (p.Gln2324His) c.6273G>C (p.Gln2091His) c.7020G>C (p.Gln2340His) | dbSNP |