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 |
|---|---|---|---|---|---|
| 19 | g.18765499A= | CA2326515072 | CRTC1 | c.982A= (p.Thr328=) c.1030A= (p.Thr344=) c.859A= (p.Thr287=) c.757A= (p.Thr253=) | |
| 19 | g.18765499A>C | CA404866738 | CRTC1 | c.982A>C (p.Thr328Pro) c.1030A>C (p.Thr344Pro) c.859A>C (p.Thr287Pro) c.757A>C (p.Thr253Pro) | |
| 19 | g.18765499A>G | CA9315706 | CRTC1 | c.982A>G (p.Thr328Ala) c.1030A>G (p.Thr344Ala) c.859A>G (p.Thr287Ala) c.757A>G (p.Thr253Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18765499A>T | CA404866739 | CRTC1 | c.982A>T (p.Thr328Ser) c.1030A>T (p.Thr344Ser) c.859A>T (p.Thr287Ser) c.757A>T (p.Thr253Ser) | |
| 19 | g.18765500C>A | CA404866742 | CRTC1 | c.983C>A (p.Thr328Asn) c.1031C>A (p.Thr344Asn) c.860C>A (p.Thr287Asn) c.758C>A (p.Thr253Asn) | |
| 19 | g.18765500C>G | CA404866740 | CRTC1 | c.983C>G (p.Thr328Ser) c.1031C>G (p.Thr344Ser) c.860C>G (p.Thr287Ser) c.758C>G (p.Thr253Ser) | |
| 19 | g.18765500C>T | CA404866741 | CRTC1 | c.983C>T (p.Thr328Ile) c.1031C>T (p.Thr344Ile) c.860C>T (p.Thr287Ile) c.758C>T (p.Thr253Ile) | |
| 19 | g.18765501C>A | CA506049345 | CRTC1 | c.984C>A (p.Thr328=) c.1032C>A (p.Thr344=) c.861C>A (p.Thr287=) c.759C>A (p.Thr253=) | |
| 19 | g.18765501C>G | CA506049347 | CRTC1 | c.984C>G (p.Thr328=) c.1032C>G (p.Thr344=) c.861C>G (p.Thr287=) c.759C>G (p.Thr253=) | |
| 19 | g.18765501C>T | CA506049349 | CRTC1 | c.984C>T (p.Thr328=) c.1032C>T (p.Thr344=) c.861C>T (p.Thr287=) c.759C>T (p.Thr253=) | gnomAD v4 |
| 19 | g.18765502C>A | CA404866743 | CRTC1 | c.985C>A (p.Leu329Met) c.1033C>A (p.Leu345Met) c.862C>A (p.Leu288Met) c.760C>A (p.Leu254Met) | |
| 19 | g.18765502C= | CA2326515073 | CRTC1 | c.985C= (p.Leu329=) c.1033C= (p.Leu345=) c.862C= (p.Leu288=) c.760C= (p.Leu254=) | |
| 19 | g.18765502C>G | CA404866744 | CRTC1 | c.985C>G (p.Leu329Val) c.1033C>G (p.Leu345Val) c.862C>G (p.Leu288Val) c.760C>G (p.Leu254Val) | |
| 19 | g.18765502C>T | CA506049353 | CRTC1 | c.985C>T (p.Leu329=) c.1033C>T (p.Leu345=) c.862C>T (p.Leu288=) c.760C>T (p.Leu254=) | dbSNP |
| 19 | g.18765503del | CA2583615129 | CRTC1 | c.986del (p.Leu329ArgfsTer11) c.1034del (p.Leu345ArgfsTer11) c.863del (p.Leu288ArgfsTer11) c.761del (p.Leu254ArgfsTer15) c.1034del (p.Leu345ArgfsTer?) c.986del (p.Leu329ArgfsTer?) | gnomAD v4 |
| 19 | g.18765503T>A | CA404866745 | CRTC1 | c.986T>A (p.Leu329Gln) c.1034T>A (p.Leu345Gln) c.863T>A (p.Leu288Gln) c.761T>A (p.Leu254Gln) | |
| 19 | g.18765503T>C | CA404866746 | CRTC1 | c.986T>C (p.Leu329Pro) c.1034T>C (p.Leu345Pro) c.863T>C (p.Leu288Pro) c.761T>C (p.Leu254Pro) | gnomAD v4 |
| 19 | g.18765503T>G | CA404866747 | CRTC1 | c.986T>G (p.Leu329Arg) c.1034T>G (p.Leu345Arg) c.863T>G (p.Leu288Arg) c.761T>G (p.Leu254Arg) | |
| 19 | g.18765504G>A | CA506049359 | CRTC1 | c.987G>A (p.Leu329=) c.1035G>A (p.Leu345=) c.864G>A (p.Leu288=) c.762G>A (p.Leu254=) | dbSNP gnomAD v4 |
| 19 | g.18765504G>C | CA506049361 | CRTC1 | c.987G>C (p.Leu329=) c.1035G>C (p.Leu345=) c.864G>C (p.Leu288=) c.762G>C (p.Leu254=) | |
| 19 | g.18765504G= | CA2326515074 | CRTC1 | c.987G= (p.Leu329=) c.1035G= (p.Leu345=) c.864G= (p.Leu288=) c.762G= (p.Leu254=) | |
| 19 | g.18765504G>T | CA506049363 | CRTC1 | c.987G>T (p.Leu329=) c.1035G>T (p.Leu345=) c.864G>T (p.Leu288=) c.762G>T (p.Leu254=) | gnomAD v4 |
| 19 | g.18765505T>A | CA404866748 | CRTC1 | c.988T>A (p.Ser330Thr) c.1036T>A (p.Ser346Thr) c.865T>A (p.Ser289Thr) c.763T>A (p.Ser255Thr) | |
| 19 | g.18765505T>C | CA404866749 | CRTC1 | c.988T>C (p.Ser330Pro) c.1036T>C (p.Ser346Pro) c.865T>C (p.Ser289Pro) c.763T>C (p.Ser255Pro) | gnomAD v4 |
| 19 | g.18765505T>G | CA404866750 | CRTC1 | c.988T>G (p.Ser330Ala) c.1036T>G (p.Ser346Ala) c.865T>G (p.Ser289Ala) c.763T>G (p.Ser255Ala) | |
| 19 | g.18765506C>A | CA404866751 | CRTC1 | c.989C>A (p.Ser330Tyr) c.1037C>A (p.Ser346Tyr) c.866C>A (p.Ser289Tyr) c.764C>A (p.Ser255Tyr) | |
| 19 | g.18765506C>G | CA404866752 | CRTC1 | c.989C>G (p.Ser330Cys) c.1037C>G (p.Ser346Cys) c.866C>G (p.Ser289Cys) c.764C>G (p.Ser255Cys) | |
| 19 | g.18765506C>T | CA404866753 | CRTC1 | c.989C>T (p.Ser330Phe) c.1037C>T (p.Ser346Phe) c.866C>T (p.Ser289Phe) c.764C>T (p.Ser255Phe) | gnomAD v4 |
| 19 | g.18765509del | CA2583615130 | CRTC1 | c.992del (p.Pro331ArgfsTer9) c.1040del (p.Pro347ArgfsTer9) c.869del (p.Pro290ArgfsTer9) c.767del (p.Pro256ArgfsTer13) c.1040del (p.Pro347ArgfsTer?) c.992del (p.Pro331ArgfsTer?) | gnomAD v4 |
| 19 | g.18765507C>A | CA506049377 | CRTC1 | c.990C>A (p.Ser330=) c.1038C>A (p.Ser346=) c.867C>A (p.Ser289=) c.765C>A (p.Ser255=) | |
| 19 | g.18765507C>G | CA506049373 | CRTC1 | c.990C>G (p.Ser330=) c.1038C>G (p.Ser346=) c.867C>G (p.Ser289=) c.765C>G (p.Ser255=) | |
| 19 | g.18765507C>T | CA506049375 | CRTC1 | c.990C>T (p.Ser330=) c.1038C>T (p.Ser346=) c.867C>T (p.Ser289=) c.765C>T (p.Ser255=) | gnomAD v4 |
| 19 | g.18765508C>A | CA404866754 | CRTC1 | c.991C>A (p.Pro331Thr) c.1039C>A (p.Pro347Thr) c.868C>A (p.Pro290Thr) c.766C>A (p.Pro256Thr) | |
| 19 | g.18765508C= | CA2326515075 | CRTC1 | c.991C= (p.Pro331=) c.1039C= (p.Pro347=) c.868C= (p.Pro290=) c.766C= (p.Pro256=) | |
| 19 | g.18765508C>G | CA404866756 | CRTC1 | c.991C>G (p.Pro331Ala) c.1039C>G (p.Pro347Ala) c.868C>G (p.Pro290Ala) c.766C>G (p.Pro256Ala) | |
| 19 | g.18765508C>T | CA404866755 | CRTC1 | c.991C>T (p.Pro331Ser) c.1039C>T (p.Pro347Ser) c.868C>T (p.Pro290Ser) c.766C>T (p.Pro256Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.18765509C>A | CA404866757 | CRTC1 | c.992C>A (p.Pro331Gln) c.1040C>A (p.Pro347Gln) c.869C>A (p.Pro290Gln) c.767C>A (p.Pro256Gln) | dbSNP gnomAD v4 |
| 19 | g.18765509C= | CA2326515076 | CRTC1 | c.992C= (p.Pro331=) c.1040C= (p.Pro347=) c.869C= (p.Pro290=) c.767C= (p.Pro256=) | |
| 19 | g.18765509C>G | CA404866758 | CRTC1 | c.992C>G (p.Pro331Arg) c.1040C>G (p.Pro347Arg) c.869C>G (p.Pro290Arg) c.767C>G (p.Pro256Arg) | |
| 19 | g.18765509C>T | CA9315707 | CRTC1 | c.992C>T (p.Pro331Leu) c.1040C>T (p.Pro347Leu) c.869C>T (p.Pro290Leu) c.767C>T (p.Pro256Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18765510G>A | CA9315708 | CRTC1 | c.993G>A (p.Pro331=) c.1041G>A (p.Pro347=) c.870G>A (p.Pro290=) c.768G>A (p.Pro256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18765510G>C | CA506049388 | CRTC1 | c.993G>C (p.Pro331=) c.1041G>C (p.Pro347=) c.870G>C (p.Pro290=) c.768G>C (p.Pro256=) | |
| 19 | g.18765510G= | CA2326515077 | CRTC1 | c.993G= (p.Pro331=) c.1041G= (p.Pro347=) c.870G= (p.Pro290=) c.768G= (p.Pro256=) | |
| 19 | g.18765510G>T | CA506049390 | CRTC1 | c.993G>T (p.Pro331=) c.1041G>T (p.Pro347=) c.870G>T (p.Pro290=) c.768G>T (p.Pro256=) | gnomAD v4 |
| 19 | g.18765511C>A | CA404866759 | CRTC1 | c.994C>A (p.Leu332Met) c.1042C>A (p.Leu348Met) c.871C>A (p.Leu291Met) c.769C>A (p.Leu257Met) | gnomAD v4 |
| 19 | g.18765511C= | CA2326515078 | CRTC1 | c.994C= (p.Leu332=) c.1042C= (p.Leu348=) c.871C= (p.Leu291=) c.769C= (p.Leu257=) | |
| 19 | g.18765511C>G | CA404866760 | CRTC1 | c.994C>G (p.Leu332Val) c.1042C>G (p.Leu348Val) c.871C>G (p.Leu291Val) c.769C>G (p.Leu257Val) | |
| 19 | g.18765511C>T | CA506049394 | CRTC1 | c.994C>T (p.Leu332=) c.1042C>T (p.Leu348=) c.871C>T (p.Leu291=) c.769C>T (p.Leu257=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18765512T>A | CA404866763 | CRTC1 | c.995T>A (p.Leu332Gln) c.1043T>A (p.Leu348Gln) c.872T>A (p.Leu291Gln) c.770T>A (p.Leu257Gln) | |
| 19 | g.18765512T>C | CA404866762 | CRTC1 | c.995T>C (p.Leu332Pro) c.1043T>C (p.Leu348Pro) c.872T>C (p.Leu291Pro) c.770T>C (p.Leu257Pro) |