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.189808464_189808465del | CA2759857931 | TP63 | c.517_518del (p.Gly173ProfsTer24) c.235_236del (p.Gly79ProfsTer24) c.235_236del (p.Gly79ProfsTer?) c.42+18622_42+18623del (n.42+18622_42+18623del) n.341_342del c.466_467del (p.Gly156ProfsTer24) c.514_515del (p.Gly172ProfsTer24) c.511_512del (p.Gly171ProfsTer24) c.478_479del (p.Gly160ProfsTer24) | |
| 3 | g.189808465G>A | CA343283 | TP63 | c.518G>A (p.Gly173Asp) c.236G>A (p.Gly79Asp) c.42+18623G>A (n.42+18623G>A) n.342G>A c.467G>A (p.Gly156Asp) c.515G>A (p.Gly172Asp) c.512G>A (p.Gly171Asp) c.479G>A (p.Gly160Asp) | ClinVar dbSNP |
| 3 | g.189808465G>C | CA355750728 | TP63 | c.518G>C (p.Gly173Ala) c.236G>C (p.Gly79Ala) c.42+18623G>C (n.42+18623G>C) n.342G>C c.467G>C (p.Gly156Ala) c.515G>C (p.Gly172Ala) c.512G>C (p.Gly171Ala) c.479G>C (p.Gly160Ala) | dbSNP |
| 3 | g.189808465G= | CA1428507526 | TP63 | c.518G= (p.Gly173=) c.236G= (p.Gly79=) c.42+18623G= (n.42+18623G=) n.342G= c.467G= (p.Gly156=) c.515G= (p.Gly172=) c.512G= (p.Gly171=) c.479G= (p.Gly160=) | |
| 3 | g.189808465G>T | CA355750729 | TP63 | c.518G>T (p.Gly173Val) c.236G>T (p.Gly79Val) c.42+18623G>T (n.42+18623G>T) n.342G>T c.467G>T (p.Gly156Val) c.515G>T (p.Gly172Val) c.512G>T (p.Gly171Val) c.479G>T (p.Gly160Val) | ClinVar dbSNP |
| 3 | g.189808466C>A | CA437636947 | TP63 | c.519C>A (p.Gly173=) c.237C>A (p.Gly79=) c.42+18624C>A (n.42+18624C>A) n.343C>A c.468C>A (p.Gly156=) c.516C>A (p.Gly172=) c.513C>A (p.Gly171=) c.480C>A (p.Gly160=) | dbSNP |
| 3 | g.189808466C= | CA1428507532 | TP63 | c.519C= (p.Gly173=) c.237C= (p.Gly79=) c.42+18624C= (n.42+18624C=) n.343C= c.468C= (p.Gly156=) c.516C= (p.Gly172=) c.513C= (p.Gly171=) c.480C= (p.Gly160=) | |
| 3 | g.189808466C>G | CA89711686 | TP63 | c.519C>G (p.Gly173=) c.237C>G (p.Gly79=) c.42+18624C>G (n.42+18624C>G) n.343C>G c.468C>G (p.Gly156=) c.516C>G (p.Gly172=) c.513C>G (p.Gly171=) c.480C>G (p.Gly160=) | dbSNP gnomAD v4 |
| 3 | g.189808466C>T | CA437636948 | TP63 | c.519C>T (p.Gly173=) c.237C>T (p.Gly79=) c.42+18624C>T (n.42+18624C>T) n.343C>T c.468C>T (p.Gly156=) c.516C>T (p.Gly172=) c.513C>T (p.Gly171=) c.480C>T (p.Gly160=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808467C>A | CA355750730 | TP63 | c.520C>A (p.Pro174Thr) c.238C>A (p.Pro80Thr) c.42+18625C>A (n.42+18625C>A) n.344C>A c.469C>A (p.Pro157Thr) c.517C>A (p.Pro173Thr) c.514C>A (p.Pro172Thr) c.481C>A (p.Pro161Thr) | |
| 3 | g.189808467C>G | CA355750731 | TP63 | c.520C>G (p.Pro174Ala) c.238C>G (p.Pro80Ala) c.42+18625C>G (n.42+18625C>G) n.344C>G c.469C>G (p.Pro157Ala) c.517C>G (p.Pro173Ala) c.514C>G (p.Pro172Ala) c.481C>G (p.Pro161Ala) | |
| 3 | g.189808467C>T | CA355750732 | TP63 | c.520C>T (p.Pro174Ser) c.238C>T (p.Pro80Ser) c.42+18625C>T (n.42+18625C>T) n.344C>T c.469C>T (p.Pro157Ser) c.517C>T (p.Pro173Ser) c.514C>T (p.Pro172Ser) c.481C>T (p.Pro161Ser) | dbSNP gnomAD v4 |
| 3 | g.189808468C>A | CA355750733 | TP63 | c.521C>A (p.Pro174Gln) c.239C>A (p.Pro80Gln) c.42+18626C>A (n.42+18626C>A) n.345C>A c.470C>A (p.Pro157Gln) c.518C>A (p.Pro173Gln) c.515C>A (p.Pro172Gln) c.482C>A (p.Pro161Gln) | dbSNP gnomAD v4 COSMIC |
| 3 | g.189808468C= | CA1428507652 | TP63 | c.521C= (p.Pro174=) c.239C= (p.Pro80=) c.42+18626C= (n.42+18626C=) n.345C= c.470C= (p.Pro157=) c.518C= (p.Pro173=) c.515C= (p.Pro172=) c.482C= (p.Pro161=) | |
| 3 | g.189808468C>G | CA355750734 | TP63 | c.521C>G (p.Pro174Arg) c.239C>G (p.Pro80Arg) c.42+18626C>G (n.42+18626C>G) n.345C>G c.470C>G (p.Pro157Arg) c.518C>G (p.Pro173Arg) c.515C>G (p.Pro172Arg) c.482C>G (p.Pro161Arg) | dbSNP |
| 3 | g.189808468C>T | CA89711690 | TP63 | c.521C>T (p.Pro174Leu) c.239C>T (p.Pro80Leu) c.42+18626C>T (n.42+18626C>T) n.345C>T c.470C>T (p.Pro157Leu) c.518C>T (p.Pro173Leu) c.515C>T (p.Pro172Leu) c.482C>T (p.Pro161Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808468_189808469insA | CA2759857932 | TP63 | c.521_522insA (p.His175AlafsTer23) c.239_240insA (p.His81AlafsTer23) c.239_240insA (p.His81AlafsTer?) c.42+18626_42+18627insA (n.42+18626_42+18627insA) n.345_346insA c.470_471insA (p.His158AlafsTer23) c.518_519insA (p.His174AlafsTer23) c.515_516insA (p.His173AlafsTer23) c.482_483insA (p.His162AlafsTer23) | |
| 3 | g.189808469G>A | CA2752158 | TP63 | c.522G>A (p.Pro174=) c.240G>A (p.Pro80=) c.42+18627G>A (n.42+18627G>A) n.346G>A c.471G>A (p.Pro157=) c.519G>A (p.Pro173=) c.516G>A (p.Pro172=) c.483G>A (p.Pro161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.189808469G>C | CA437636952 | TP63 | c.522G>C (p.Pro174=) c.240G>C (p.Pro80=) c.42+18627G>C (n.42+18627G>C) n.346G>C c.471G>C (p.Pro157=) c.519G>C (p.Pro173=) c.516G>C (p.Pro172=) c.483G>C (p.Pro161=) | dbSNP |
| 3 | g.189808469G= | CA1428507659 | TP63 | c.522G= (p.Pro174=) c.240G= (p.Pro80=) c.42+18627G= (n.42+18627G=) n.346G= c.471G= (p.Pro157=) c.519G= (p.Pro173=) c.516G= (p.Pro172=) c.483G= (p.Pro161=) | |
| 3 | g.189808469G>T | CA437636953 | TP63 | c.522G>T (p.Pro174=) c.240G>T (p.Pro80=) c.42+18627G>T (n.42+18627G>T) n.346G>T c.471G>T (p.Pro157=) c.519G>T (p.Pro173=) c.516G>T (p.Pro172=) c.483G>T (p.Pro161=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 3 | g.189808470C>A | CA355750735 | TP63 | c.523C>A (p.His175Asn) c.241C>A (p.His81Asn) c.42+18628C>A (n.42+18628C>A) n.347C>A c.472C>A (p.His158Asn) c.520C>A (p.His174Asn) c.517C>A (p.His173Asn) c.484C>A (p.His162Asn) | dbSNP |
| 3 | g.189808470C>G | CA355750736 | TP63 | c.523C>G (p.His175Asp) c.241C>G (p.His81Asp) c.42+18628C>G (n.42+18628C>G) n.347C>G c.472C>G (p.His158Asp) c.520C>G (p.His174Asp) c.517C>G (p.His173Asp) c.484C>G (p.His162Asp) | dbSNP |
| 3 | g.189808470C>T | CA355750737 | TP63 | c.523C>T (p.His175Tyr) c.241C>T (p.His81Tyr) c.42+18628C>T (n.42+18628C>T) n.347C>T c.472C>T (p.His158Tyr) c.520C>T (p.His174Tyr) c.517C>T (p.His173Tyr) c.484C>T (p.His162Tyr) | |
| 3 | g.189808471A>C | CA355750738 | TP63 | c.524A>C (p.His175Pro) c.242A>C (p.His81Pro) c.42+18629A>C (n.42+18629A>C) n.348A>C c.473A>C (p.His158Pro) c.521A>C (p.His174Pro) c.518A>C (p.His173Pro) c.485A>C (p.His162Pro) | dbSNP |
| 3 | g.189808471A>G | CA355750739 | TP63 | c.524A>G (p.His175Arg) c.242A>G (p.His81Arg) c.42+18629A>G (n.42+18629A>G) n.348A>G c.473A>G (p.His158Arg) c.521A>G (p.His174Arg) c.518A>G (p.His173Arg) c.485A>G (p.His162Arg) | dbSNP |
| 3 | g.189808471A>T | CA355750740 | TP63 | c.524A>T (p.His175Leu) c.242A>T (p.His81Leu) c.42+18629A>T (n.42+18629A>T) n.348A>T c.473A>T (p.His158Leu) c.521A>T (p.His174Leu) c.518A>T (p.His173Leu) c.485A>T (p.His162Leu) | dbSNP |
| 3 | g.189808472C>A | CA355750741 | TP63 | c.525C>A (p.His175Gln) c.243C>A (p.His81Gln) c.42+18630C>A (n.42+18630C>A) n.349C>A c.474C>A (p.His158Gln) c.522C>A (p.His174Gln) c.519C>A (p.His173Gln) c.486C>A (p.His162Gln) | dbSNP |
| 3 | g.189808472C= | CA1428507663 | TP63 | c.525C= (p.His175=) c.243C= (p.His81=) c.42+18630C= (n.42+18630C=) n.349C= c.474C= (p.His158=) c.522C= (p.His174=) c.519C= (p.His173=) c.486C= (p.His162=) | |
| 3 | g.189808472C>G | CA355750742 | TP63 | c.525C>G (p.His175Gln) c.243C>G (p.His81Gln) c.42+18630C>G (n.42+18630C>G) n.349C>G c.474C>G (p.His158Gln) c.522C>G (p.His174Gln) c.519C>G (p.His173Gln) c.486C>G (p.His162Gln) | |
| 3 | g.189808472C>T | CA437636954 | TP63 | c.525C>T (p.His175=) c.243C>T (p.His81=) c.42+18630C>T (n.42+18630C>T) n.349C>T c.474C>T (p.His158=) c.522C>T (p.His174=) c.519C>T (p.His173=) c.486C>T (p.His162=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189808473A>C | CA355750743 | TP63 | c.526A>C (p.Ser176Arg) c.244A>C (p.Ser82Arg) c.42+18631A>C (n.42+18631A>C) n.350A>C c.475A>C (p.Ser159Arg) c.523A>C (p.Ser175Arg) c.520A>C (p.Ser174Arg) c.487A>C (p.Ser163Arg) | |
| 3 | g.189808473A>G | CA355750744 | TP63 | c.526A>G (p.Ser176Gly) c.244A>G (p.Ser82Gly) c.42+18631A>G (n.42+18631A>G) n.350A>G c.475A>G (p.Ser159Gly) c.523A>G (p.Ser175Gly) c.520A>G (p.Ser174Gly) c.487A>G (p.Ser163Gly) | |
| 3 | g.189808473A>T | CA355750745 | TP63 | c.526A>T (p.Ser176Cys) c.244A>T (p.Ser82Cys) c.42+18631A>T (n.42+18631A>T) n.350A>T c.475A>T (p.Ser159Cys) c.523A>T (p.Ser175Cys) c.520A>T (p.Ser174Cys) c.487A>T (p.Ser163Cys) | |
| 3 | g.189808474G>A | CA355750746 | TP63 | c.527G>A (p.Ser176Asn) c.245G>A (p.Ser82Asn) c.42+18632G>A (n.42+18632G>A) n.351G>A c.476G>A (p.Ser159Asn) c.524G>A (p.Ser175Asn) c.521G>A (p.Ser174Asn) c.488G>A (p.Ser163Asn) | dbSNP |
| 3 | g.189808474G>C | CA355750747 | TP63 | c.527G>C (p.Ser176Thr) c.245G>C (p.Ser82Thr) c.42+18632G>C (n.42+18632G>C) n.351G>C c.476G>C (p.Ser159Thr) c.524G>C (p.Ser175Thr) c.521G>C (p.Ser174Thr) c.488G>C (p.Ser163Thr) | dbSNP |
| 3 | g.189808474G>T | CA355750748 | TP63 | c.527G>T (p.Ser176Ile) c.245G>T (p.Ser82Ile) c.42+18632G>T (n.42+18632G>T) n.351G>T c.476G>T (p.Ser159Ile) c.524G>T (p.Ser175Ile) c.521G>T (p.Ser174Ile) c.488G>T (p.Ser163Ile) | |
| 3 | g.189808475T>A | CA355750749 | TP63 | c.528T>A (p.Ser176Arg) c.246T>A (p.Ser82Arg) c.42+18633T>A (n.42+18633T>A) n.352T>A c.477T>A (p.Ser159Arg) c.525T>A (p.Ser175Arg) c.522T>A (p.Ser174Arg) c.489T>A (p.Ser163Arg) | |
| 3 | g.189808475T>C | CA437636958 | TP63 | c.528T>C (p.Ser176=) c.246T>C (p.Ser82=) c.42+18633T>C (n.42+18633T>C) n.352T>C c.477T>C (p.Ser159=) c.525T>C (p.Ser175=) c.522T>C (p.Ser174=) c.489T>C (p.Ser163=) | |
| 3 | g.189808475T>G | CA355750750 | TP63 | c.528T>G (p.Ser176Arg) c.246T>G (p.Ser82Arg) c.42+18633T>G (n.42+18633T>G) n.352T>G c.477T>G (p.Ser159Arg) c.525T>G (p.Ser175Arg) c.522T>G (p.Ser174Arg) c.489T>G (p.Ser163Arg) | |
| 3 | g.189808476T>A | CA355750751 | TP63 | c.529T>A (p.Phe177Ile) c.247T>A (p.Phe83Ile) c.42+18634T>A (n.42+18634T>A) n.353T>A c.478T>A (p.Phe160Ile) c.526T>A (p.Phe176Ile) c.523T>A (p.Phe175Ile) c.490T>A (p.Phe164Ile) | |
| 3 | g.189808476T>C | CA355750752 | TP63 | c.529T>C (p.Phe177Leu) c.247T>C (p.Phe83Leu) c.42+18634T>C (n.42+18634T>C) n.353T>C c.478T>C (p.Phe160Leu) c.526T>C (p.Phe176Leu) c.523T>C (p.Phe175Leu) c.490T>C (p.Phe164Leu) | dbSNP |
| 3 | g.189808476T>G | CA2752159 | TP63 | c.529T>G (p.Phe177Val) c.247T>G (p.Phe83Val) c.42+18634T>G (n.42+18634T>G) n.353T>G c.478T>G (p.Phe160Val) c.526T>G (p.Phe176Val) c.523T>G (p.Phe175Val) c.490T>G (p.Phe164Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189808476T= | CA1428507667 | TP63 | c.529T= (p.Phe177=) c.247T= (p.Phe83=) c.42+18634T= (n.42+18634T=) n.353T= c.478T= (p.Phe160=) c.526T= (p.Phe176=) c.523T= (p.Phe175=) c.490T= (p.Phe164=) | |
| 3 | g.189808477T>A | CA355750753 | TP63 | c.530T>A (p.Phe177Tyr) c.248T>A (p.Phe83Tyr) c.42+18635T>A (n.42+18635T>A) n.354T>A c.479T>A (p.Phe160Tyr) c.527T>A (p.Phe176Tyr) c.524T>A (p.Phe175Tyr) c.491T>A (p.Phe164Tyr) | |
| 3 | g.189808477T>C | CA355750754 | TP63 | c.530T>C (p.Phe177Ser) c.248T>C (p.Phe83Ser) c.42+18635T>C (n.42+18635T>C) n.354T>C c.479T>C (p.Phe160Ser) c.527T>C (p.Phe176Ser) c.524T>C (p.Phe175Ser) c.491T>C (p.Phe164Ser) | ClinVar |
| 3 | g.189808477T>G | CA355750755 | TP63 | c.530T>G (p.Phe177Cys) c.248T>G (p.Phe83Cys) c.42+18635T>G (n.42+18635T>G) n.354T>G c.479T>G (p.Phe160Cys) c.527T>G (p.Phe176Cys) c.524T>G (p.Phe175Cys) c.491T>G (p.Phe164Cys) | |
| 3 | g.189808478C>A | CA355750756 | TP63 | c.531C>A (p.Phe177Leu) c.249C>A (p.Phe83Leu) c.42+18636C>A (n.42+18636C>A) n.355C>A c.480C>A (p.Phe160Leu) c.528C>A (p.Phe176Leu) c.525C>A (p.Phe175Leu) c.492C>A (p.Phe164Leu) | dbSNP |
| 3 | g.189808478C= | CA1428507673 | TP63 | c.531C= (p.Phe177=) c.249C= (p.Phe83=) c.42+18636C= (n.42+18636C=) n.355C= c.480C= (p.Phe160=) c.528C= (p.Phe176=) c.525C= (p.Phe175=) c.492C= (p.Phe164=) | |
| 3 | g.189808478C>G | CA355750757 | TP63 | c.531C>G (p.Phe177Leu) c.249C>G (p.Phe83Leu) c.42+18636C>G (n.42+18636C>G) n.355C>G c.480C>G (p.Phe160Leu) c.528C>G (p.Phe176Leu) c.525C>G (p.Phe175Leu) c.492C>G (p.Phe164Leu) | dbSNP gnomAD v4 |