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.3793412T>A | CA394562308 | CREBBP | c.1190A>T (p.His397Leu) c.1136A>T (p.His379Leu) c.437A>T (p.His146Leu) | |
| 16 | g.3793412T>C | CA394562313 | CREBBP | c.1190A>G (p.His397Arg) c.1136A>G (p.His379Arg) c.437A>G (p.His146Arg) | |
| 16 | g.3793412T>G | CA394562315 | CREBBP | c.1190A>C (p.His397Pro) c.1136A>C (p.His379Pro) c.437A>C (p.His146Pro) | |
| 16 | g.3793413G>A | CA394562330 | CREBBP | c.1189C>T (p.His397Tyr) c.1135C>T (p.His379Tyr) c.436C>T (p.His146Tyr) | |
| 16 | g.3793413G>C | CA394562321 | CREBBP | c.1189C>G (p.His397Asp) c.1135C>G (p.His379Asp) c.436C>G (p.His146Asp) | |
| 16 | g.3793413G>T | CA394562326 | CREBBP | c.1189C>A (p.His397Asn) c.1135C>A (p.His379Asn) c.436C>A (p.His146Asn) | |
| 16 | g.3793414C>A | CA7870502 | CREBBP | c.1188G>T (p.Thr396=) c.1134G>T (p.Thr378=) c.435G>T (p.Thr145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3793414C= | CA2202954944 | CREBBP | c.1188G= (p.Thr396=) c.1134G= (p.Thr378=) c.435G= (p.Thr145=) | |
| 16 | g.3793414C>G | CA493394663 | CREBBP | c.1188G>C (p.Thr396=) c.1134G>C (p.Thr378=) c.435G>C (p.Thr145=) | |
| 16 | g.3793414C>T | CA276986521 | CREBBP | c.1188G>A (p.Thr396=) c.1134G>A (p.Thr378=) c.435G>A (p.Thr145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3793415G>A | CA394562341 | CREBBP | c.1187C>T (p.Thr396Met) c.1133C>T (p.Thr378Met) c.434C>T (p.Thr145Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3793415G>C | CA394562344 | CREBBP | c.1187C>G (p.Thr396Arg) c.1133C>G (p.Thr378Arg) c.434C>G (p.Thr145Arg) | COSMIC |
| 16 | g.3793415G= | CA2202954950 | CREBBP | c.1187C= (p.Thr396=) c.1133C= (p.Thr378=) c.434C= (p.Thr145=) | |
| 16 | g.3793415G>T | CA394562345 | CREBBP | c.1187C>A (p.Thr396Lys) c.1133C>A (p.Thr378Lys) c.434C>A (p.Thr145Lys) | |
| 16 | g.3793416T>A | CA394562346 | CREBBP | c.1186A>T (p.Thr396Ser) c.1132A>T (p.Thr378Ser) c.433A>T (p.Thr145Ser) | |
| 16 | g.3793416T>C | CA394562348 | CREBBP | c.1186A>G (p.Thr396Ala) c.1132A>G (p.Thr378Ala) c.433A>G (p.Thr145Ala) | |
| 16 | g.3793416T>G | CA394562349 | CREBBP | c.1186A>C (p.Thr396Pro) c.1132A>C (p.Thr378Pro) c.433A>C (p.Thr145Pro) | |
| 16 | g.3793417C>A | CA394562354 | CREBBP | c.1185G>T (p.Met395Ile) c.1131G>T (p.Met377Ile) c.432G>T (p.Met144Ile) | |
| 16 | g.3793417C>G | CA394562358 | CREBBP | c.1185G>C (p.Met395Ile) c.1131G>C (p.Met377Ile) c.432G>C (p.Met144Ile) | |
| 16 | g.3793417C>T | CA394562361 | CREBBP | c.1185G>A (p.Met395Ile) c.1131G>A (p.Met377Ile) c.432G>A (p.Met144Ile) | |
| 16 | g.3793418A>C | CA394562364 | CREBBP | c.1184T>G (p.Met395Arg) c.1130T>G (p.Met377Arg) c.431T>G (p.Met144Arg) | |
| 16 | g.3793418A>G | CA394562366 | CREBBP | c.1184T>C (p.Met395Thr) c.1130T>C (p.Met377Thr) c.431T>C (p.Met144Thr) | |
| 16 | g.3793418A>T | CA394562369 | CREBBP | c.1184T>A (p.Met395Lys) c.1130T>A (p.Met377Lys) c.431T>A (p.Met144Lys) | COSMIC |
| 16 | g.3793418_3793435del | CA645596807 | CREBBP | c.1167_1184del (p.Asn390_Met395del) c.1113_1130del (p.Asn372_Met377del) c.414_431del (p.Asn139_Met144del) | COSMIC |
| 16 | g.3793419T>A | CA394562380 | CREBBP | c.1183A>T (p.Met395Leu) c.1129A>T (p.Met377Leu) c.430A>T (p.Met144Leu) | |
| 16 | g.3793419T>C | CA394562377 | CREBBP | c.1183A>G (p.Met395Val) c.1129A>G (p.Met377Val) c.430A>G (p.Met144Val) | dbSNP gnomAD v4 |
| 16 | g.3793419T>G | CA394562374 | CREBBP | c.1183A>C (p.Met395Leu) c.1129A>C (p.Met377Leu) c.430A>C (p.Met144Leu) | |
| 16 | g.3793419T= | CA2202954954 | CREBBP | c.1183A= (p.Met395=) c.1129A= (p.Met377=) c.430A= (p.Met144=) | |
| 16 | g.3793420G>A | CA493394664 | CREBBP | c.1182C>T (p.His394=) c.1128C>T (p.His376=) c.429C>T (p.His143=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3793420G>C | CA394562383 | CREBBP | c.1182C>G (p.His394Gln) c.1128C>G (p.His376Gln) c.429C>G (p.His143Gln) | |
| 16 | g.3793420G= | CA2202954957 | CREBBP | c.1182C= (p.His394=) c.1128C= (p.His376=) c.429C= (p.His143=) | |
| 16 | g.3793420G>T | CA394562386 | CREBBP | c.1182C>A (p.His394Gln) c.1128C>A (p.His376Gln) c.429C>A (p.His143Gln) | |
| 16 | g.3793421T>A | CA394562389 | CREBBP | c.1181A>T (p.His394Leu) c.1127A>T (p.His376Leu) c.428A>T (p.His143Leu) | |
| 16 | g.3793421T>C | CA394562391 | CREBBP | c.1181A>G (p.His394Arg) c.1127A>G (p.His376Arg) c.428A>G (p.His143Arg) | |
| 16 | g.3793421T>G | CA394562393 | CREBBP | c.1181A>C (p.His394Pro) c.1127A>C (p.His376Pro) c.428A>C (p.His143Pro) | |
| 16 | g.3793422G>A | CA394562409 | CREBBP | c.1180C>T (p.His394Tyr) c.1126C>T (p.His376Tyr) c.427C>T (p.His143Tyr) | |
| 16 | g.3793422G>C | CA394562411 | CREBBP | c.1180C>G (p.His394Asp) c.1126C>G (p.His376Asp) c.427C>G (p.His143Asp) | |
| 16 | g.3793422G>T | CA394562414 | CREBBP | c.1180C>A (p.His394Asn) c.1126C>A (p.His376Asn) c.427C>A (p.His143Asn) | |
| 16 | g.3793423A>C | CA394562420 | CREBBP | c.1179T>G (p.Asn393Lys) c.1125T>G (p.Asn375Lys) c.426T>G (p.Asn142Lys) | |
| 16 | g.3793423A>G | CA493394665 | CREBBP | c.1179T>C (p.Asn393=) c.1125T>C (p.Asn375=) c.426T>C (p.Asn142=) | |
| 16 | g.3793423A>T | CA394562422 | CREBBP | c.1179T>A (p.Asn393Lys) c.1125T>A (p.Asn375Lys) c.426T>A (p.Asn142Lys) | |
| 16 | g.3793424T>A | CA394562426 | CREBBP | c.1178A>T (p.Asn393Ile) c.1124A>T (p.Asn375Ile) c.425A>T (p.Asn142Ile) | |
| 16 | g.3793424T>C | CA394562429 | CREBBP | c.1178A>G (p.Asn393Ser) c.1124A>G (p.Asn375Ser) c.425A>G (p.Asn142Ser) | |
| 16 | g.3793424T>G | CA394562431 | CREBBP | c.1178A>C (p.Asn393Thr) c.1124A>C (p.Asn375Thr) c.425A>C (p.Asn142Thr) | |
| 16 | g.3793425T>A | CA394562435 | CREBBP | c.1177A>T (p.Asn393Tyr) c.1123A>T (p.Asn375Tyr) c.424A>T (p.Asn142Tyr) | |
| 16 | g.3793425T>C | CA394562436 | CREBBP | c.1177A>G (p.Asn393Asp) c.1123A>G (p.Asn375Asp) c.424A>G (p.Asn142Asp) | |
| 16 | g.3793425T>G | CA394562434 | CREBBP | c.1177A>C (p.Asn393His) c.1123A>C (p.Asn375His) c.424A>C (p.Asn142His) | |
| 16 | g.3793426C>A | CA394562439 | CREBBP | c.1176G>T (p.Leu392Phe) c.1122G>T (p.Leu374Phe) c.423G>T (p.Leu141Phe) | |
| 16 | g.3793426C>G | CA394562442 | CREBBP | c.1176G>C (p.Leu392Phe) c.1122G>C (p.Leu374Phe) c.423G>C (p.Leu141Phe) | |
| 16 | g.3793426C>T | CA493394666 | CREBBP | c.1176G>A (p.Leu392=) c.1122G>A (p.Leu374=) c.423G>A (p.Leu141=) |