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.3727898_3727917dup | CA2631401257 | CREBBP | c.7136_7155dup (p.Gly2386ArgfsTer17) c.7022_7041dup (p.Gly2348ArgfsTer17) c.7091_7110dup (p.Gly2371ArgfsTer17) c.6719_6738dup (p.Gly2247ArgfsTer17) c.6875_6894dup (p.Gly2299ArgfsTer17) c.7082_7101dup (p.Gly2368ArgfsTer17) c.6383_6402dup (p.Gly2135ArgfsTer17) c.7130_7149dup (p.Gly2384ArgfsTer17) | gnomAD v4 |
| 16 | g.3727907A>C | CA493393296 | CREBBP | c.7140T>G (p.Thr2380=) c.7026T>G (p.Thr2342=) c.7095T>G (p.Thr2365=) c.6723T>G (p.Thr2241=) c.6879T>G (p.Thr2293=) c.7086T>G (p.Thr2362=) c.6387T>G (p.Thr2129=) c.7134T>G (p.Thr2378=) | dbSNP |
| 16 | g.3727907A>G | CA493393297 | CREBBP | c.7140T>C (p.Thr2380=) c.7026T>C (p.Thr2342=) c.7095T>C (p.Thr2365=) c.6723T>C (p.Thr2241=) c.6879T>C (p.Thr2293=) c.7086T>C (p.Thr2362=) c.6387T>C (p.Thr2129=) c.7134T>C (p.Thr2378=) | dbSNP |
| 16 | g.3727907A>T | CA493393298 | CREBBP | c.7140T>A (p.Thr2380=) c.7026T>A (p.Thr2342=) c.7095T>A (p.Thr2365=) c.6723T>A (p.Thr2241=) c.6879T>A (p.Thr2293=) c.7086T>A (p.Thr2362=) c.6387T>A (p.Thr2129=) c.7134T>A (p.Thr2378=) | dbSNP |
| 16 | g.3727908G>A | CA394550451 | CREBBP | c.7139C>T (p.Thr2380Ile) c.7025C>T (p.Thr2342Ile) c.7094C>T (p.Thr2365Ile) c.6722C>T (p.Thr2241Ile) c.6878C>T (p.Thr2293Ile) c.7085C>T (p.Thr2362Ile) c.6386C>T (p.Thr2129Ile) c.7133C>T (p.Thr2378Ile) | dbSNP gnomAD v4 |
| 16 | g.3727908G>C | CA394550452 | CREBBP | c.7139C>G (p.Thr2380Ser) c.7025C>G (p.Thr2342Ser) c.7094C>G (p.Thr2365Ser) c.6722C>G (p.Thr2241Ser) c.6878C>G (p.Thr2293Ser) c.7085C>G (p.Thr2362Ser) c.6386C>G (p.Thr2129Ser) c.7133C>G (p.Thr2378Ser) | dbSNP gnomAD v4 |
| 16 | g.3727908G>T | CA394550453 | CREBBP | c.7139C>A (p.Thr2380Asn) c.7025C>A (p.Thr2342Asn) c.7094C>A (p.Thr2365Asn) c.6722C>A (p.Thr2241Asn) c.6878C>A (p.Thr2293Asn) c.7085C>A (p.Thr2362Asn) c.6386C>A (p.Thr2129Asn) c.7133C>A (p.Thr2378Asn) | dbSNP |
| 16 | g.3727909T>A | CA276971079 | CREBBP | c.7138A>T (p.Thr2380Ser) c.7024A>T (p.Thr2342Ser) c.7093A>T (p.Thr2365Ser) c.6721A>T (p.Thr2241Ser) c.6877A>T (p.Thr2293Ser) c.7084A>T (p.Thr2362Ser) c.6385A>T (p.Thr2129Ser) c.7132A>T (p.Thr2378Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727909T>C | CA394550454 | CREBBP | c.7138A>G (p.Thr2380Ala) c.7024A>G (p.Thr2342Ala) c.7093A>G (p.Thr2365Ala) c.6721A>G (p.Thr2241Ala) c.6877A>G (p.Thr2293Ala) c.7084A>G (p.Thr2362Ala) c.6385A>G (p.Thr2129Ala) c.7132A>G (p.Thr2378Ala) | dbSNP |
| 16 | g.3727909T>G | CA394550455 | CREBBP | c.7138A>C (p.Thr2380Pro) c.7024A>C (p.Thr2342Pro) c.7093A>C (p.Thr2365Pro) c.6721A>C (p.Thr2241Pro) c.6877A>C (p.Thr2293Pro) c.7084A>C (p.Thr2362Pro) c.6385A>C (p.Thr2129Pro) c.7132A>C (p.Thr2378Pro) | dbSNP gnomAD v4 |
| 16 | g.3727909T= | CA2202928398 | CREBBP | c.7138A= (p.Thr2380=) c.7024A= (p.Thr2342=) c.7093A= (p.Thr2365=) c.6721A= (p.Thr2241=) c.6877A= (p.Thr2293=) c.7084A= (p.Thr2362=) c.6385A= (p.Thr2129=) c.7132A= (p.Thr2378=) | |
| 16 | g.3727910C>A | CA394550456 | CREBBP | c.7137G>T (p.Gln2379His) c.7023G>T (p.Gln2341His) c.7092G>T (p.Gln2364His) c.6720G>T (p.Gln2240His) c.6876G>T (p.Gln2292His) c.7083G>T (p.Gln2361His) c.6384G>T (p.Gln2128His) c.7131G>T (p.Gln2377His) | dbSNP gnomAD v4 |
| 16 | g.3727910C= | CA2202928399 | CREBBP | c.7137G= (p.Gln2379=) c.7023G= (p.Gln2341=) c.7092G= (p.Gln2364=) c.6720G= (p.Gln2240=) c.6876G= (p.Gln2292=) c.7083G= (p.Gln2361=) c.6384G= (p.Gln2128=) c.7131G= (p.Gln2377=) | |
| 16 | g.3727910C>G | CA394550457 | CREBBP | c.7137G>C (p.Gln2379His) c.7023G>C (p.Gln2341His) c.7092G>C (p.Gln2364His) c.6720G>C (p.Gln2240His) c.6876G>C (p.Gln2292His) c.7083G>C (p.Gln2361His) c.6384G>C (p.Gln2128His) c.7131G>C (p.Gln2377His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727910C>T | CA493393301 | CREBBP | c.7137G>A (p.Gln2379=) c.7023G>A (p.Gln2341=) c.7092G>A (p.Gln2364=) c.6720G>A (p.Gln2240=) c.6876G>A (p.Gln2292=) c.7083G>A (p.Gln2361=) c.6384G>A (p.Gln2128=) c.7131G>A (p.Gln2377=) | dbSNP |
| 16 | g.3727911T>A | CA394550458 | CREBBP | c.7136A>T (p.Gln2379Leu) c.7022A>T (p.Gln2341Leu) c.7091A>T (p.Gln2364Leu) c.6719A>T (p.Gln2240Leu) c.6875A>T (p.Gln2292Leu) c.7082A>T (p.Gln2361Leu) c.6383A>T (p.Gln2128Leu) c.7130A>T (p.Gln2377Leu) | |
| 16 | g.3727911T>C | CA7868945 | CREBBP | c.7136A>G (p.Gln2379Arg) c.7022A>G (p.Gln2341Arg) c.7091A>G (p.Gln2364Arg) c.6719A>G (p.Gln2240Arg) c.6875A>G (p.Gln2292Arg) c.7082A>G (p.Gln2361Arg) c.6383A>G (p.Gln2128Arg) c.7130A>G (p.Gln2377Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.3727911T>G | CA394550459 | CREBBP | c.7136A>C (p.Gln2379Pro) c.7022A>C (p.Gln2341Pro) c.7091A>C (p.Gln2364Pro) c.6719A>C (p.Gln2240Pro) c.6875A>C (p.Gln2292Pro) c.7082A>C (p.Gln2361Pro) c.6383A>C (p.Gln2128Pro) c.7130A>C (p.Gln2377Pro) | ClinVar gnomAD v4 |
| 16 | g.3727911T= | CA2202928400 | CREBBP | c.7136A= (p.Gln2379=) c.7022A= (p.Gln2341=) c.7091A= (p.Gln2364=) c.6719A= (p.Gln2240=) c.6875A= (p.Gln2292=) c.7082A= (p.Gln2361=) c.6383A= (p.Gln2128=) c.7130A= (p.Gln2377=) | |
| 16 | g.3727912G>A | CA394550460 | CREBBP | c.7135C>T (p.Gln2379Ter) c.7021C>T (p.Gln2341Ter) c.7090C>T (p.Gln2364Ter) c.6718C>T (p.Gln2240Ter) c.6874C>T (p.Gln2292Ter) c.7081C>T (p.Gln2361Ter) c.6382C>T (p.Gln2128Ter) c.7129C>T (p.Gln2377Ter) | dbSNP |
| 16 | g.3727912G>C | CA394550461 | CREBBP | c.7135C>G (p.Gln2379Glu) c.7021C>G (p.Gln2341Glu) c.7090C>G (p.Gln2364Glu) c.6718C>G (p.Gln2240Glu) c.6874C>G (p.Gln2292Glu) c.7081C>G (p.Gln2361Glu) c.6382C>G (p.Gln2128Glu) c.7129C>G (p.Gln2377Glu) | dbSNP |
| 16 | g.3727912G>T | CA394550462 | CREBBP | c.7135C>A (p.Gln2379Lys) c.7021C>A (p.Gln2341Lys) c.7090C>A (p.Gln2364Lys) c.6718C>A (p.Gln2240Lys) c.6874C>A (p.Gln2292Lys) c.7081C>A (p.Gln2361Lys) c.6382C>A (p.Gln2128Lys) c.7129C>A (p.Gln2377Lys) | dbSNP |
| 16 | g.3727913G>A | CA493393303 | CREBBP | c.7134C>T (p.Pro2378=) c.7020C>T (p.Pro2340=) c.7089C>T (p.Pro2363=) c.6717C>T (p.Pro2239=) c.6873C>T (p.Pro2291=) c.7080C>T (p.Pro2360=) c.6381C>T (p.Pro2127=) c.7128C>T (p.Pro2376=) | |
| 16 | g.3727913G>C | CA7868946 | CREBBP | c.7134C>G (p.Pro2378=) c.7020C>G (p.Pro2340=) c.7089C>G (p.Pro2363=) c.6717C>G (p.Pro2239=) c.6873C>G (p.Pro2291=) c.7080C>G (p.Pro2360=) c.6381C>G (p.Pro2127=) c.7128C>G (p.Pro2376=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727913G= | CA2202928401 | CREBBP | c.7134C= (p.Pro2378=) c.7020C= (p.Pro2340=) c.7089C= (p.Pro2363=) c.6717C= (p.Pro2239=) c.6873C= (p.Pro2291=) c.7080C= (p.Pro2360=) c.6381C= (p.Pro2127=) c.7128C= (p.Pro2376=) | |
| 16 | g.3727913G>T | CA493393304 | CREBBP | c.7134C>A (p.Pro2378=) c.7020C>A (p.Pro2340=) c.7089C>A (p.Pro2363=) c.6717C>A (p.Pro2239=) c.6873C>A (p.Pro2291=) c.7080C>A (p.Pro2360=) c.6381C>A (p.Pro2127=) c.7128C>A (p.Pro2376=) | |
| 16 | g.3727914G>A | CA394550463 | CREBBP | c.7133C>T (p.Pro2378Leu) c.7019C>T (p.Pro2340Leu) c.7088C>T (p.Pro2363Leu) c.6716C>T (p.Pro2239Leu) c.6872C>T (p.Pro2291Leu) c.7079C>T (p.Pro2360Leu) c.6380C>T (p.Pro2127Leu) c.7127C>T (p.Pro2376Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727914G>C | CA394550465 | CREBBP | c.7133C>G (p.Pro2378Arg) c.7019C>G (p.Pro2340Arg) c.7088C>G (p.Pro2363Arg) c.6716C>G (p.Pro2239Arg) c.6872C>G (p.Pro2291Arg) c.7079C>G (p.Pro2360Arg) c.6380C>G (p.Pro2127Arg) c.7127C>G (p.Pro2376Arg) | dbSNP |
| 16 | g.3727914G= | CA2202928402 | CREBBP | c.7133C= (p.Pro2378=) c.7019C= (p.Pro2340=) c.7088C= (p.Pro2363=) c.6716C= (p.Pro2239=) c.6872C= (p.Pro2291=) c.7079C= (p.Pro2360=) c.6380C= (p.Pro2127=) c.7127C= (p.Pro2376=) | |
| 16 | g.3727914G>T | CA394550464 | CREBBP | c.7133C>A (p.Pro2378His) c.7019C>A (p.Pro2340His) c.7088C>A (p.Pro2363His) c.6716C>A (p.Pro2239His) c.6872C>A (p.Pro2291His) c.7079C>A (p.Pro2360His) c.6380C>A (p.Pro2127His) c.7127C>A (p.Pro2376His) | dbSNP gnomAD v4 |
| 16 | g.3727915G>A | CA394550466 | CREBBP | c.7132C>T (p.Pro2378Ser) c.7018C>T (p.Pro2340Ser) c.7087C>T (p.Pro2363Ser) c.6715C>T (p.Pro2239Ser) c.6871C>T (p.Pro2291Ser) c.7078C>T (p.Pro2360Ser) c.6379C>T (p.Pro2127Ser) c.7126C>T (p.Pro2376Ser) | dbSNP |
| 16 | g.3727915G>C | CA394550467 | CREBBP | c.7132C>G (p.Pro2378Ala) c.7018C>G (p.Pro2340Ala) c.7087C>G (p.Pro2363Ala) c.6715C>G (p.Pro2239Ala) c.6871C>G (p.Pro2291Ala) c.7078C>G (p.Pro2360Ala) c.6379C>G (p.Pro2127Ala) c.7126C>G (p.Pro2376Ala) | dbSNP |
| 16 | g.3727915G>T | CA394550468 | CREBBP | c.7132C>A (p.Pro2378Thr) c.7018C>A (p.Pro2340Thr) c.7087C>A (p.Pro2363Thr) c.6715C>A (p.Pro2239Thr) c.6871C>A (p.Pro2291Thr) c.7078C>A (p.Pro2360Thr) c.6379C>A (p.Pro2127Thr) c.7126C>A (p.Pro2376Thr) | |
| 16 | g.3727916T>A | CA493393306 | CREBBP | c.7131A>T (p.Ser2377=) c.7017A>T (p.Ser2339=) c.7086A>T (p.Ser2362=) c.6714A>T (p.Ser2238=) c.6870A>T (p.Ser2290=) c.7077A>T (p.Ser2359=) c.6378A>T (p.Ser2126=) c.7125A>T (p.Ser2375=) | dbSNP |
| 16 | g.3727916T>C | CA493393307 | CREBBP | c.7131A>G (p.Ser2377=) c.7017A>G (p.Ser2339=) c.7086A>G (p.Ser2362=) c.6714A>G (p.Ser2238=) c.6870A>G (p.Ser2290=) c.7077A>G (p.Ser2359=) c.6378A>G (p.Ser2126=) c.7125A>G (p.Ser2375=) | dbSNP gnomAD v4 |
| 16 | g.3727916T>G | CA493393308 | CREBBP | c.7131A>C (p.Ser2377=) c.7017A>C (p.Ser2339=) c.7086A>C (p.Ser2362=) c.6714A>C (p.Ser2238=) c.6870A>C (p.Ser2290=) c.7077A>C (p.Ser2359=) c.6378A>C (p.Ser2126=) c.7125A>C (p.Ser2375=) | |
| 16 | g.3727916T= | CA2202928403 | CREBBP | c.7131A= (p.Ser2377=) c.7017A= (p.Ser2339=) c.7086A= (p.Ser2362=) c.6714A= (p.Ser2238=) c.6870A= (p.Ser2290=) c.7077A= (p.Ser2359=) c.6378A= (p.Ser2126=) c.7125A= (p.Ser2375=) | |
| 16 | g.3727917G>A | CA394550469 | CREBBP | c.7130C>T (p.Ser2377Leu) c.7016C>T (p.Ser2339Leu) c.7085C>T (p.Ser2362Leu) c.6713C>T (p.Ser2238Leu) c.6869C>T (p.Ser2290Leu) c.7076C>T (p.Ser2359Leu) c.6377C>T (p.Ser2126Leu) c.7124C>T (p.Ser2375Leu) | dbSNP COSMIC |
| 16 | g.3727917G>C | CA394550470 | CREBBP | c.7130C>G (p.Ser2377Ter) c.7016C>G (p.Ser2339Ter) c.7085C>G (p.Ser2362Ter) c.6713C>G (p.Ser2238Ter) c.6869C>G (p.Ser2290Ter) c.7076C>G (p.Ser2359Ter) c.6377C>G (p.Ser2126Ter) c.7124C>G (p.Ser2375Ter) | |
| 16 | g.3727917G>T | CA394550471 | CREBBP | c.7130C>A (p.Ser2377Ter) c.7016C>A (p.Ser2339Ter) c.7085C>A (p.Ser2362Ter) c.6713C>A (p.Ser2238Ter) c.6869C>A (p.Ser2290Ter) c.7076C>A (p.Ser2359Ter) c.6377C>A (p.Ser2126Ter) c.7124C>A (p.Ser2375Ter) | dbSNP |
| 16 | g.3727918A>C | CA394550472 | CREBBP | c.7129T>G (p.Ser2377Ala) c.7015T>G (p.Ser2339Ala) c.7084T>G (p.Ser2362Ala) c.6712T>G (p.Ser2238Ala) c.6868T>G (p.Ser2290Ala) c.7075T>G (p.Ser2359Ala) c.6376T>G (p.Ser2126Ala) c.7123T>G (p.Ser2375Ala) | |
| 16 | g.3727918A>G | CA394550473 | CREBBP | c.7129T>C (p.Ser2377Pro) c.7015T>C (p.Ser2339Pro) c.7084T>C (p.Ser2362Pro) c.6712T>C (p.Ser2238Pro) c.6868T>C (p.Ser2290Pro) c.7075T>C (p.Ser2359Pro) c.6376T>C (p.Ser2126Pro) c.7123T>C (p.Ser2375Pro) | dbSNP |
| 16 | g.3727918A>T | CA394550474 | CREBBP | c.7129T>A (p.Ser2377Thr) c.7015T>A (p.Ser2339Thr) c.7084T>A (p.Ser2362Thr) c.6712T>A (p.Ser2238Thr) c.6868T>A (p.Ser2290Thr) c.7075T>A (p.Ser2359Thr) c.6376T>A (p.Ser2126Thr) c.7123T>A (p.Ser2375Thr) | dbSNP |
| 16 | g.3727919G>A | CA493393310 | CREBBP | c.7128C>T (p.Val2376=) c.7014C>T (p.Val2338=) c.7083C>T (p.Val2361=) c.6711C>T (p.Val2237=) c.6867C>T (p.Val2289=) c.7074C>T (p.Val2358=) c.6375C>T (p.Val2125=) c.7122C>T (p.Val2374=) | dbSNP |
| 16 | g.3727919G>C | CA493393311 | CREBBP | c.7128C>G (p.Val2376=) c.7014C>G (p.Val2338=) c.7083C>G (p.Val2361=) c.6711C>G (p.Val2237=) c.6867C>G (p.Val2289=) c.7074C>G (p.Val2358=) c.6375C>G (p.Val2125=) c.7122C>G (p.Val2374=) | dbSNP gnomAD v4 |
| 16 | g.3727919G>T | CA493393312 | CREBBP | c.7128C>A (p.Val2376=) c.7014C>A (p.Val2338=) c.7083C>A (p.Val2361=) c.6711C>A (p.Val2237=) c.6867C>A (p.Val2289=) c.7074C>A (p.Val2358=) c.6375C>A (p.Val2125=) c.7122C>A (p.Val2374=) | dbSNP |
| 16 | g.3727920A>C | CA394550475 | CREBBP | c.7127T>G (p.Val2376Gly) c.7013T>G (p.Val2338Gly) c.7082T>G (p.Val2361Gly) c.6710T>G (p.Val2237Gly) c.6866T>G (p.Val2289Gly) c.7073T>G (p.Val2358Gly) c.6374T>G (p.Val2125Gly) c.7121T>G (p.Val2374Gly) | |
| 16 | g.3727920A>G | CA394550476 | CREBBP | c.7127T>C (p.Val2376Ala) c.7013T>C (p.Val2338Ala) c.7082T>C (p.Val2361Ala) c.6710T>C (p.Val2237Ala) c.6866T>C (p.Val2289Ala) c.7073T>C (p.Val2358Ala) c.6374T>C (p.Val2125Ala) c.7121T>C (p.Val2374Ala) | dbSNP |
| 16 | g.3727920A>T | CA394550477 | CREBBP | c.7127T>A (p.Val2376Asp) c.7013T>A (p.Val2338Asp) c.7082T>A (p.Val2361Asp) c.6710T>A (p.Val2237Asp) c.6866T>A (p.Val2289Asp) c.7073T>A (p.Val2358Asp) c.6374T>A (p.Val2125Asp) c.7121T>A (p.Val2374Asp) | dbSNP |
| 16 | g.3727921C>A | CA394550478 | CREBBP | c.7126G>T (p.Val2376Phe) c.7012G>T (p.Val2338Phe) c.7081G>T (p.Val2361Phe) c.6709G>T (p.Val2237Phe) c.6865G>T (p.Val2289Phe) c.7072G>T (p.Val2358Phe) c.6373G>T (p.Val2125Phe) c.7120G>T (p.Val2374Phe) | dbSNP |