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 |
|---|---|---|---|---|---|
| 3 | g.189868615G>A | CA118340 | TP63 | c.1028G>A (p.Arg343Gln) c.746G>A (p.Arg249Gln) c.491G>A (p.Arg164Gln) n.852G>A c.977G>A (p.Arg326Gln) c.1025G>A (p.Arg342Gln) c.1022G>A (p.Arg341Gln) c.989G>A (p.Arg330Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.189868615G>C | CA355755161 | TP63 | c.1028G>C (p.Arg343Pro) c.746G>C (p.Arg249Pro) c.491G>C (p.Arg164Pro) n.852G>C c.977G>C (p.Arg326Pro) c.1025G>C (p.Arg342Pro) c.1022G>C (p.Arg341Pro) c.989G>C (p.Arg330Pro) | dbSNP |
| 3 | g.189868615G= | CA1428495751 | TP63 | c.1028G= (p.Arg343=) c.746G= (p.Arg249=) c.491G= (p.Arg164=) n.852G= c.977G= (p.Arg326=) c.1025G= (p.Arg342=) c.1022G= (p.Arg341=) c.989G= (p.Arg330=) | |
| 3 | g.189868615G>T | CA355755162 | TP63 | c.1028G>T (p.Arg343Leu) c.746G>T (p.Arg249Leu) c.491G>T (p.Arg164Leu) n.852G>T c.977G>T (p.Arg326Leu) c.1025G>T (p.Arg342Leu) c.1022G>T (p.Arg341Leu) c.989G>T (p.Arg330Leu) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.189868616G>A | CA437413441 | TP63 | c.1029G>A (p.Arg343=) c.747G>A (p.Arg249=) c.492G>A (p.Arg164=) n.853G>A c.978G>A (p.Arg326=) c.1026G>A (p.Arg342=) c.1023G>A (p.Arg341=) c.990G>A (p.Arg330=) | dbSNP gnomAD v4 |
| 3 | g.189868616G>C | CA437413443 | TP63 | c.1029G>C (p.Arg343=) c.747G>C (p.Arg249=) c.492G>C (p.Arg164=) n.853G>C c.978G>C (p.Arg326=) c.1026G>C (p.Arg342=) c.1023G>C (p.Arg341=) c.990G>C (p.Arg330=) | dbSNP |
| 3 | g.189868616G>T | CA437413445 | TP63 | c.1029G>T (p.Arg343=) c.747G>T (p.Arg249=) c.492G>T (p.Arg164=) n.853G>T c.978G>T (p.Arg326=) c.1026G>T (p.Arg342=) c.1023G>T (p.Arg341=) c.990G>T (p.Arg330=) | |
| 3 | g.189868617A>C | CA355755163 | TP63 | c.1030A>C (p.Ile344Leu) c.748A>C (p.Ile250Leu) c.493A>C (p.Ile165Leu) n.854A>C c.979A>C (p.Ile327Leu) c.1027A>C (p.Ile343Leu) c.1024A>C (p.Ile342Leu) c.991A>C (p.Ile331Leu) | |
| 3 | g.189868617A>G | CA355755164 | TP63 | c.1030A>G (p.Ile344Val) c.748A>G (p.Ile250Val) c.493A>G (p.Ile165Val) n.854A>G c.979A>G (p.Ile327Val) c.1027A>G (p.Ile343Val) c.1024A>G (p.Ile342Val) c.991A>G (p.Ile331Val) | |
| 3 | g.189868617A>T | CA355755165 | TP63 | c.1030A>T (p.Ile344Phe) c.748A>T (p.Ile250Phe) c.493A>T (p.Ile165Phe) n.854A>T c.979A>T (p.Ile327Phe) c.1027A>T (p.Ile343Phe) c.1024A>T (p.Ile342Phe) c.991A>T (p.Ile331Phe) | |
| 3 | g.189868618T>A | CA355755166 | TP63 | c.1031T>A (p.Ile344Asn) c.749T>A (p.Ile250Asn) c.494T>A (p.Ile165Asn) n.855T>A c.980T>A (p.Ile327Asn) c.1028T>A (p.Ile343Asn) c.1025T>A (p.Ile342Asn) c.992T>A (p.Ile331Asn) | |
| 3 | g.189868618T>C | CA355755168 | TP63 | c.1031T>C (p.Ile344Thr) c.749T>C (p.Ile250Thr) c.494T>C (p.Ile165Thr) n.855T>C c.980T>C (p.Ile327Thr) c.1028T>C (p.Ile343Thr) c.1025T>C (p.Ile342Thr) c.992T>C (p.Ile331Thr) | |
| 3 | g.189868618T>G | CA355755167 | TP63 | c.1031T>G (p.Ile344Ser) c.749T>G (p.Ile250Ser) c.494T>G (p.Ile165Ser) n.855T>G c.980T>G (p.Ile327Ser) c.1028T>G (p.Ile343Ser) c.1025T>G (p.Ile342Ser) c.992T>G (p.Ile331Ser) | |
| 3 | g.189868619C>A | CA437413454 | TP63 | c.1032C>A (p.Ile344=) c.750C>A (p.Ile250=) c.495C>A (p.Ile165=) n.856C>A c.981C>A (p.Ile327=) c.1029C>A (p.Ile343=) c.1026C>A (p.Ile342=) c.993C>A (p.Ile331=) | COSMIC COSMIC COSMIC |
| 3 | g.189868619C= | CA1428495756 | TP63 | c.1032C= (p.Ile344=) c.750C= (p.Ile250=) c.495C= (p.Ile165=) n.856C= c.981C= (p.Ile327=) c.1029C= (p.Ile343=) c.1026C= (p.Ile342=) c.993C= (p.Ile331=) | |
| 3 | g.189868619C>G | CA355755169 | TP63 | c.1032C>G (p.Ile344Met) c.750C>G (p.Ile250Met) c.495C>G (p.Ile165Met) n.856C>G c.981C>G (p.Ile327Met) c.1029C>G (p.Ile343Met) c.1026C>G (p.Ile342Met) c.993C>G (p.Ile331Met) | dbSNP |
| 3 | g.189868619C>T | CA2752328 | TP63 | c.1032C>T (p.Ile344=) c.750C>T (p.Ile250=) c.495C>T (p.Ile165=) n.856C>T c.981C>T (p.Ile327=) c.1029C>T (p.Ile343=) c.1026C>T (p.Ile342=) c.993C>T (p.Ile331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189868620T>A | CA355755170 | TP63 | c.1033T>A (p.Cys345Ser) c.751T>A (p.Cys251Ser) c.496T>A (p.Cys166Ser) n.857T>A c.982T>A (p.Cys328Ser) c.1030T>A (p.Cys344Ser) c.1027T>A (p.Cys343Ser) c.994T>A (p.Cys332Ser) | |
| 3 | g.189868620T>C | CA118336 | TP63 | c.1033T>C (p.Cys345Arg) c.751T>C (p.Cys251Arg) c.496T>C (p.Cys166Arg) n.857T>C c.982T>C (p.Cys328Arg) c.1030T>C (p.Cys344Arg) c.1027T>C (p.Cys343Arg) c.994T>C (p.Cys332Arg) | ClinVar dbSNP |
| 3 | g.189868620T>G | CA355755171 | TP63 | c.1033T>G (p.Cys345Gly) c.751T>G (p.Cys251Gly) c.496T>G (p.Cys166Gly) n.857T>G c.982T>G (p.Cys328Gly) c.1030T>G (p.Cys344Gly) c.1027T>G (p.Cys343Gly) c.994T>G (p.Cys332Gly) | |
| 3 | g.189868620T= | CA1428495762 | TP63 | c.1033T= (p.Cys345=) c.751T= (p.Cys251=) c.496T= (p.Cys166=) n.857T= c.982T= (p.Cys328=) c.1030T= (p.Cys344=) c.1027T= (p.Cys343=) c.994T= (p.Cys332=) | |
| 3 | g.189868621G>A | CA355755172 | TP63 | c.1034G>A (p.Cys345Tyr) c.752G>A (p.Cys251Tyr) c.497G>A (p.Cys166Tyr) n.858G>A c.983G>A (p.Cys328Tyr) c.1031G>A (p.Cys344Tyr) c.1028G>A (p.Cys343Tyr) c.995G>A (p.Cys332Tyr) | |
| 3 | g.189868621G>C | CA355755173 | TP63 | c.1034G>C (p.Cys345Ser) c.752G>C (p.Cys251Ser) c.497G>C (p.Cys166Ser) n.858G>C c.983G>C (p.Cys328Ser) c.1031G>C (p.Cys344Ser) c.1028G>C (p.Cys343Ser) c.995G>C (p.Cys332Ser) | dbSNP |
| 3 | g.189868621G>T | CA355755174 | TP63 | c.1034G>T (p.Cys345Phe) c.752G>T (p.Cys251Phe) c.497G>T (p.Cys166Phe) n.858G>T c.983G>T (p.Cys328Phe) c.1031G>T (p.Cys344Phe) c.1028G>T (p.Cys343Phe) c.995G>T (p.Cys332Phe) | ClinVar |
| 3 | g.189868622T>A | CA355755175 | TP63 | c.1035T>A (p.Cys345Ter) c.753T>A (p.Cys251Ter) c.498T>A (p.Cys166Ter) n.859T>A c.984T>A (p.Cys328Ter) c.1032T>A (p.Cys344Ter) c.1029T>A (p.Cys343Ter) c.996T>A (p.Cys332Ter) | dbSNP |
| 3 | g.189868622T>C | CA437413464 | TP63 | c.1035T>C (p.Cys345=) c.753T>C (p.Cys251=) c.498T>C (p.Cys166=) n.859T>C c.984T>C (p.Cys328=) c.1032T>C (p.Cys344=) c.1029T>C (p.Cys343=) c.996T>C (p.Cys332=) | |
| 3 | g.189868622T>G | CA355755176 | TP63 | c.1035T>G (p.Cys345Trp) c.753T>G (p.Cys251Trp) c.498T>G (p.Cys166Trp) n.859T>G c.984T>G (p.Cys328Trp) c.1032T>G (p.Cys344Trp) c.1029T>G (p.Cys343Trp) c.996T>G (p.Cys332Trp) | dbSNP |
| 3 | g.189868623G>A | CA355755177 | TP63 | c.1036G>A (p.Ala346Thr) c.754G>A (p.Ala252Thr) c.499G>A (p.Ala167Thr) n.860G>A c.985G>A (p.Ala329Thr) c.1033G>A (p.Ala345Thr) c.1030G>A (p.Ala344Thr) c.997G>A (p.Ala333Thr) | dbSNP |
| 3 | g.189868623G>C | CA355755178 | TP63 | c.1036G>C (p.Ala346Pro) c.754G>C (p.Ala252Pro) c.499G>C (p.Ala167Pro) n.860G>C c.985G>C (p.Ala329Pro) c.1033G>C (p.Ala345Pro) c.1030G>C (p.Ala344Pro) c.997G>C (p.Ala333Pro) | |
| 3 | g.189868623G= | CA1428495771 | TP63 | c.1036G= (p.Ala346=) c.754G= (p.Ala252=) c.499G= (p.Ala167=) n.860G= c.985G= (p.Ala329=) c.1033G= (p.Ala345=) c.1030G= (p.Ala344=) c.997G= (p.Ala333=) | |
| 3 | g.189868623G>T | CA2752329 | TP63 | c.1036G>T (p.Ala346Ser) c.754G>T (p.Ala252Ser) c.499G>T (p.Ala167Ser) n.860G>T c.985G>T (p.Ala329Ser) c.1033G>T (p.Ala345Ser) c.1030G>T (p.Ala344Ser) c.997G>T (p.Ala333Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189868624C>A | CA355755179 | TP63 | c.1037C>A (p.Ala346Asp) c.755C>A (p.Ala252Asp) c.500C>A (p.Ala167Asp) n.861C>A c.986C>A (p.Ala329Asp) c.1034C>A (p.Ala345Asp) c.1031C>A (p.Ala344Asp) c.998C>A (p.Ala333Asp) | |
| 3 | g.189868624C= | CA1428495781 | TP63 | c.1037C= (p.Ala346=) c.755C= (p.Ala252=) c.500C= (p.Ala167=) n.861C= c.986C= (p.Ala329=) c.1034C= (p.Ala345=) c.1031C= (p.Ala344=) c.998C= (p.Ala333=) | |
| 3 | g.189868624C>G | CA204448 | TP63 | c.1037C>G (p.Ala346Gly) c.755C>G (p.Ala252Gly) c.500C>G (p.Ala167Gly) n.861C>G c.986C>G (p.Ala329Gly) c.1034C>G (p.Ala345Gly) c.1031C>G (p.Ala344Gly) c.998C>G (p.Ala333Gly) | ClinVar dbSNP |
| 3 | g.189868624C>T | CA355755180 | TP63 | c.1037C>T (p.Ala346Val) c.755C>T (p.Ala252Val) c.500C>T (p.Ala167Val) n.861C>T c.986C>T (p.Ala329Val) c.1034C>T (p.Ala345Val) c.1031C>T (p.Ala344Val) c.998C>T (p.Ala333Val) | dbSNP |
| 3 | g.189868625T>A | CA437413474 | TP63 | c.1038T>A (p.Ala346=) c.756T>A (p.Ala252=) c.501T>A (p.Ala167=) n.862T>A c.987T>A (p.Ala329=) c.1035T>A (p.Ala345=) c.1032T>A (p.Ala344=) c.999T>A (p.Ala333=) | |
| 3 | g.189868625T>C | CA437413475 | TP63 | c.1038T>C (p.Ala346=) c.756T>C (p.Ala252=) c.501T>C (p.Ala167=) n.862T>C c.987T>C (p.Ala329=) c.1035T>C (p.Ala345=) c.1032T>C (p.Ala344=) c.999T>C (p.Ala333=) | gnomAD v4 |
| 3 | g.189868625T>G | CA437413477 | TP63 | c.1038T>G (p.Ala346=) c.756T>G (p.Ala252=) c.501T>G (p.Ala167=) n.862T>G c.987T>G (p.Ala329=) c.1035T>G (p.Ala345=) c.1032T>G (p.Ala344=) c.999T>G (p.Ala333=) | |
| 3 | g.189868626T>A | CA355755181 | TP63 | c.1039T>A (p.Cys347Ser) c.757T>A (p.Cys253Ser) c.502T>A (p.Cys168Ser) n.863T>A c.988T>A (p.Cys330Ser) c.1036T>A (p.Cys346Ser) c.1033T>A (p.Cys345Ser) c.1000T>A (p.Cys334Ser) | |
| 3 | g.189868626T>C | CA355755182 | TP63 | c.1039T>C (p.Cys347Arg) c.757T>C (p.Cys253Arg) c.502T>C (p.Cys168Arg) n.863T>C c.988T>C (p.Cys330Arg) c.1036T>C (p.Cys346Arg) c.1033T>C (p.Cys345Arg) c.1000T>C (p.Cys334Arg) | ClinVar |
| 3 | g.189868626T>G | CA355755183 | TP63 | c.1039T>G (p.Cys347Gly) c.757T>G (p.Cys253Gly) c.502T>G (p.Cys168Gly) n.863T>G c.988T>G (p.Cys330Gly) c.1036T>G (p.Cys346Gly) c.1033T>G (p.Cys345Gly) c.1000T>G (p.Cys334Gly) | |
| 3 | g.189868627G>A | CA355755184 | TP63 | c.1040G>A (p.Cys347Tyr) c.758G>A (p.Cys253Tyr) c.503G>A (p.Cys168Tyr) n.864G>A c.989G>A (p.Cys330Tyr) c.1037G>A (p.Cys346Tyr) c.1034G>A (p.Cys345Tyr) c.1001G>A (p.Cys334Tyr) | dbSNP |
| 3 | g.189868627G>C | CA355755185 | TP63 | c.1040G>C (p.Cys347Ser) c.758G>C (p.Cys253Ser) c.503G>C (p.Cys168Ser) n.864G>C c.989G>C (p.Cys330Ser) c.1037G>C (p.Cys346Ser) c.1034G>C (p.Cys345Ser) c.1001G>C (p.Cys334Ser) | dbSNP |
| 3 | g.189868627G= | CA1428495787 | TP63 | c.1040G= (p.Cys347=) c.758G= (p.Cys253=) c.503G= (p.Cys168=) n.864G= c.989G= (p.Cys330=) c.1037G= (p.Cys346=) c.1034G= (p.Cys345=) c.1001G= (p.Cys334=) | |
| 3 | g.189868627G>T | CA16617858 | TP63 | c.1040G>T (p.Cys347Phe) c.758G>T (p.Cys253Phe) c.503G>T (p.Cys168Phe) n.864G>T c.989G>T (p.Cys330Phe) c.1037G>T (p.Cys346Phe) c.1034G>T (p.Cys345Phe) c.1001G>T (p.Cys334Phe) | ClinVar dbSNP |
| 3 | g.189868628C>A | CA355755186 | TP63 | c.1041C>A (p.Cys347Ter) c.759C>A (p.Cys253Ter) c.504C>A (p.Cys168Ter) n.865C>A c.990C>A (p.Cys330Ter) c.1038C>A (p.Cys346Ter) c.1035C>A (p.Cys345Ter) c.1002C>A (p.Cys334Ter) | dbSNP |
| 3 | g.189868628C>G | CA355755187 | TP63 | c.1041C>G (p.Cys347Trp) c.759C>G (p.Cys253Trp) c.504C>G (p.Cys168Trp) n.865C>G c.990C>G (p.Cys330Trp) c.1038C>G (p.Cys346Trp) c.1035C>G (p.Cys345Trp) c.1002C>G (p.Cys334Trp) | dbSNP |
| 3 | g.189868628C>T | CA437413487 | TP63 | c.1041C>T (p.Cys347=) c.759C>T (p.Cys253=) c.504C>T (p.Cys168=) n.865C>T c.990C>T (p.Cys330=) c.1038C>T (p.Cys346=) c.1035C>T (p.Cys345=) c.1002C>T (p.Cys334=) | dbSNP |
| 3 | g.189868629C>A | CA355755188 | TP63 | c.1042C>A (p.Pro348Thr) c.760C>A (p.Pro254Thr) c.505C>A (p.Pro169Thr) n.866C>A c.991C>A (p.Pro331Thr) c.1039C>A (p.Pro347Thr) c.1036C>A (p.Pro346Thr) c.1003C>A (p.Pro335Thr) | |
| 3 | g.189868629C= | CA1428495797 | TP63 | c.1042C= (p.Pro348=) c.760C= (p.Pro254=) c.505C= (p.Pro169=) n.866C= c.991C= (p.Pro331=) c.1039C= (p.Pro347=) c.1036C= (p.Pro346=) c.1003C= (p.Pro335=) |