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.1105725_1105727del | CA2576545100 | GPX4 | c.503_505del (p.Ser168del) c.311_313del (p.Ser104del) c.386_388del (p.Ser129del) c.8_10del (p.Ser3del) c.392_394del (p.Ser131del) c.125_127del (p.Ser42del) c.272_274del (p.Ser91del) n.331_333del c.389_391del (p.Ser130del) c.500_502del (p.Ser167del) | |
| 19 | g.1105724A= | CA2317520107 | GPX4 | c.502A= (p.Ser168=) c.310A= (p.Ser104=) c.385A= (p.Ser129=) c.7A= (p.Ser3=) c.391A= (p.Ser131=) c.124A= (p.Ser42=) c.271A= (p.Ser91=) n.330A= c.388A= (p.Ser130=) c.499A= (p.Ser167=) | |
| 19 | g.1105724A>C | CA402937524 | GPX4 | c.502A>C (p.Ser168Arg) c.310A>C (p.Ser104Arg) c.385A>C (p.Ser129Arg) c.7A>C (p.Ser3Arg) c.391A>C (p.Ser131Arg) c.124A>C (p.Ser42Arg) c.271A>C (p.Ser91Arg) n.330A>C c.388A>C (p.Ser130Arg) c.499A>C (p.Ser167Arg) | |
| 19 | g.1105724A>G | CA9037343 | GPX4 | c.502A>G (p.Ser168Gly) c.310A>G (p.Ser104Gly) c.385A>G (p.Ser129Gly) c.7A>G (p.Ser3Gly) c.391A>G (p.Ser131Gly) c.124A>G (p.Ser42Gly) c.271A>G (p.Ser91Gly) n.330A>G c.388A>G (p.Ser130Gly) c.499A>G (p.Ser167Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1105724A>T | CA402937525 | GPX4 | c.502A>T (p.Ser168Cys) c.310A>T (p.Ser104Cys) c.385A>T (p.Ser129Cys) c.7A>T (p.Ser3Cys) c.391A>T (p.Ser131Cys) c.124A>T (p.Ser42Cys) c.271A>T (p.Ser91Cys) n.330A>T c.388A>T (p.Ser130Cys) c.499A>T (p.Ser167Cys) | |
| 19 | g.1105725G>A | CA402937526 | GPX4 | c.503G>A (p.Ser168Asn) c.311G>A (p.Ser104Asn) c.386G>A (p.Ser129Asn) c.8G>A (p.Ser3Asn) c.392G>A (p.Ser131Asn) c.125G>A (p.Ser42Asn) c.272G>A (p.Ser91Asn) n.331G>A c.389G>A (p.Ser130Asn) c.500G>A (p.Ser167Asn) | |
| 19 | g.1105725G>C | CA402937527 | GPX4 | c.503G>C (p.Ser168Thr) c.311G>C (p.Ser104Thr) c.386G>C (p.Ser129Thr) c.8G>C (p.Ser3Thr) c.392G>C (p.Ser131Thr) c.125G>C (p.Ser42Thr) c.272G>C (p.Ser91Thr) n.331G>C c.389G>C (p.Ser130Thr) c.500G>C (p.Ser167Thr) | |
| 19 | g.1105725G>T | CA402937528 | GPX4 | c.503G>T (p.Ser168Ile) c.311G>T (p.Ser104Ile) c.386G>T (p.Ser129Ile) c.8G>T (p.Ser3Ile) c.392G>T (p.Ser131Ile) c.125G>T (p.Ser42Ile) c.272G>T (p.Ser91Ile) n.331G>T c.389G>T (p.Ser130Ile) c.500G>T (p.Ser167Ile) | |
| 19 | g.1105726C>A | CA402937529 | GPX4 | c.504C>A (p.Ser168Arg) c.312C>A (p.Ser104Arg) c.387C>A (p.Ser129Arg) c.9C>A (p.Ser3Arg) c.393C>A (p.Ser131Arg) c.126C>A (p.Ser42Arg) c.273C>A (p.Ser91Arg) n.332C>A c.390C>A (p.Ser130Arg) c.501C>A (p.Ser167Arg) | |
| 19 | g.1105726C>G | CA402937530 | GPX4 | c.504C>G (p.Ser168Arg) c.312C>G (p.Ser104Arg) c.387C>G (p.Ser129Arg) c.9C>G (p.Ser3Arg) c.393C>G (p.Ser131Arg) c.126C>G (p.Ser42Arg) c.273C>G (p.Ser91Arg) n.332C>G c.390C>G (p.Ser130Arg) c.501C>G (p.Ser167Arg) | gnomAD v4 |
| 19 | g.1105726C>T | CA504694598 | GPX4 | c.504C>T (p.Ser168=) c.312C>T (p.Ser104=) c.387C>T (p.Ser129=) c.9C>T (p.Ser3=) c.393C>T (p.Ser131=) c.126C>T (p.Ser42=) c.273C>T (p.Ser91=) n.332C>T c.390C>T (p.Ser130=) c.501C>T (p.Ser167=) | gnomAD v4 |
| 19 | g.1105727A>C | CA402937531 | GPX4 | c.505A>C (p.Lys169Gln) c.313A>C (p.Lys105Gln) c.388A>C (p.Lys130Gln) c.10A>C (p.Lys4Gln) c.394A>C (p.Lys132Gln) c.127A>C (p.Lys43Gln) c.274A>C (p.Lys92Gln) n.333A>C c.391A>C (p.Lys131Gln) c.502A>C (p.Lys168Gln) | |
| 19 | g.1105727A>G | CA402937532 | GPX4 | c.505A>G (p.Lys169Glu) c.313A>G (p.Lys105Glu) c.388A>G (p.Lys130Glu) c.10A>G (p.Lys4Glu) c.394A>G (p.Lys132Glu) c.127A>G (p.Lys43Glu) c.274A>G (p.Lys92Glu) n.333A>G c.391A>G (p.Lys131Glu) c.502A>G (p.Lys168Glu) | |
| 19 | g.1105727A>T | CA402937533 | GPX4 | c.505A>T (p.Lys169Ter) c.313A>T (p.Lys105Ter) c.388A>T (p.Lys130Ter) c.10A>T (p.Lys4Ter) c.394A>T (p.Lys132Ter) c.127A>T (p.Lys43Ter) c.274A>T (p.Lys92Ter) n.333A>T c.391A>T (p.Lys131Ter) c.502A>T (p.Lys168Ter) | |
| 19 | g.1105728A>C | CA402937534 | GPX4 | c.506A>C (p.Lys169Thr) c.314A>C (p.Lys105Thr) c.389A>C (p.Lys130Thr) c.11A>C (p.Lys4Thr) c.395A>C (p.Lys132Thr) c.128A>C (p.Lys43Thr) c.275A>C (p.Lys92Thr) n.334A>C c.392A>C (p.Lys131Thr) c.503A>C (p.Lys168Thr) | |
| 19 | g.1105728A>G | CA402937535 | GPX4 | c.506A>G (p.Lys169Arg) c.314A>G (p.Lys105Arg) c.389A>G (p.Lys130Arg) c.11A>G (p.Lys4Arg) c.395A>G (p.Lys132Arg) c.128A>G (p.Lys43Arg) c.275A>G (p.Lys92Arg) n.334A>G c.392A>G (p.Lys131Arg) c.503A>G (p.Lys168Arg) | |
| 19 | g.1105728A>T | CA402937536 | GPX4 | c.506A>T (p.Lys169Met) c.314A>T (p.Lys105Met) c.389A>T (p.Lys130Met) c.11A>T (p.Lys4Met) c.395A>T (p.Lys132Met) c.128A>T (p.Lys43Met) c.275A>T (p.Lys92Met) n.334A>T c.392A>T (p.Lys131Met) c.503A>T (p.Lys168Met) | |
| 19 | g.1105729G>A | CA504694599 | GPX4 | c.507G>A (p.Lys169=) c.315G>A (p.Lys105=) c.390G>A (p.Lys130=) c.12G>A (p.Lys4=) c.396G>A (p.Lys132=) c.129G>A (p.Lys43=) c.276G>A (p.Lys92=) n.335G>A c.393G>A (p.Lys131=) c.504G>A (p.Lys168=) | |
| 19 | g.1105729G>C | CA303993932 | GPX4 | c.507G>C (p.Lys169Asn) c.315G>C (p.Lys105Asn) c.390G>C (p.Lys130Asn) c.12G>C (p.Lys4Asn) c.396G>C (p.Lys132Asn) c.129G>C (p.Lys43Asn) c.276G>C (p.Lys92Asn) n.335G>C c.393G>C (p.Lys131Asn) c.504G>C (p.Lys168Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1105729G= | CA2317520108 | GPX4 | c.507G= (p.Lys169=) c.315G= (p.Lys105=) c.390G= (p.Lys130=) c.12G= (p.Lys4=) c.396G= (p.Lys132=) c.129G= (p.Lys43=) c.276G= (p.Lys92=) n.335G= c.393G= (p.Lys131=) c.504G= (p.Lys168=) | |
| 19 | g.1105729G>T | CA402937537 | GPX4 | c.507G>T (p.Lys169Asn) c.315G>T (p.Lys105Asn) c.390G>T (p.Lys130Asn) c.12G>T (p.Lys4Asn) c.396G>T (p.Lys132Asn) c.129G>T (p.Lys43Asn) c.276G>T (p.Lys92Asn) n.335G>T c.393G>T (p.Lys131Asn) c.504G>T (p.Lys168Asn) | |
| 19 | g.1105730A>C | CA402937538 | GPX4 | c.508A>C (p.Ile170Leu) c.316A>C (p.Ile106Leu) c.391A>C (p.Ile131Leu) c.13A>C (p.Ile5Leu) c.397A>C (p.Ile133Leu) c.130A>C (p.Ile44Leu) c.277A>C (p.Ile93Leu) n.336A>C c.394A>C (p.Ile132Leu) c.505A>C (p.Ile169Leu) | |
| 19 | g.1105730A>G | CA402937539 | GPX4 | c.508A>G (p.Ile170Val) c.316A>G (p.Ile106Val) c.391A>G (p.Ile131Val) c.13A>G (p.Ile5Val) c.397A>G (p.Ile133Val) c.130A>G (p.Ile44Val) c.277A>G (p.Ile93Val) n.336A>G c.394A>G (p.Ile132Val) c.505A>G (p.Ile169Val) | |
| 19 | g.1105730A>T | CA402937540 | GPX4 | c.508A>T (p.Ile170Phe) c.316A>T (p.Ile106Phe) c.391A>T (p.Ile131Phe) c.13A>T (p.Ile5Phe) c.397A>T (p.Ile133Phe) c.130A>T (p.Ile44Phe) c.277A>T (p.Ile93Phe) n.336A>T c.394A>T (p.Ile132Phe) c.505A>T (p.Ile169Phe) | gnomAD v4 |
| 19 | g.1105731T>A | CA402937541 | GPX4 | c.509T>A (p.Ile170Asn) c.317T>A (p.Ile106Asn) c.392T>A (p.Ile131Asn) c.14T>A (p.Ile5Asn) c.398T>A (p.Ile133Asn) c.131T>A (p.Ile44Asn) c.278T>A (p.Ile93Asn) n.337T>A c.395T>A (p.Ile132Asn) c.506T>A (p.Ile169Asn) | |
| 19 | g.1105731T>C | CA9037344 | GPX4 | c.509T>C (p.Ile170Thr) c.317T>C (p.Ile106Thr) c.392T>C (p.Ile131Thr) c.14T>C (p.Ile5Thr) c.398T>C (p.Ile133Thr) c.131T>C (p.Ile44Thr) c.278T>C (p.Ile93Thr) n.337T>C c.395T>C (p.Ile132Thr) c.506T>C (p.Ile169Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1105731T>G | CA402937542 | GPX4 | c.509T>G (p.Ile170Ser) c.317T>G (p.Ile106Ser) c.392T>G (p.Ile131Ser) c.14T>G (p.Ile5Ser) c.398T>G (p.Ile133Ser) c.131T>G (p.Ile44Ser) c.278T>G (p.Ile93Ser) n.337T>G c.395T>G (p.Ile132Ser) c.506T>G (p.Ile169Ser) | |
| 19 | g.1105731T= | CA2317520109 | GPX4 | c.509T= (p.Ile170=) c.317T= (p.Ile106=) c.392T= (p.Ile131=) c.14T= (p.Ile5=) c.398T= (p.Ile133=) c.131T= (p.Ile44=) c.278T= (p.Ile93=) n.337T= c.395T= (p.Ile132=) c.506T= (p.Ile169=) | |
| 19 | g.1105732C>A | CA504694601 | GPX4 | c.510C>A (p.Ile170=) c.318C>A (p.Ile106=) c.393C>A (p.Ile131=) c.15C>A (p.Ile5=) c.399C>A (p.Ile133=) c.132C>A (p.Ile44=) c.279C>A (p.Ile93=) n.338C>A c.396C>A (p.Ile132=) c.507C>A (p.Ile169=) | |
| 19 | g.1105732C= | CA2317520110 | GPX4 | c.510C= (p.Ile170=) c.318C= (p.Ile106=) c.393C= (p.Ile131=) c.15C= (p.Ile5=) c.399C= (p.Ile133=) c.132C= (p.Ile44=) c.279C= (p.Ile93=) n.338C= c.396C= (p.Ile132=) c.507C= (p.Ile169=) | |
| 19 | g.1105732C>G | CA402937543 | GPX4 | c.510C>G (p.Ile170Met) c.318C>G (p.Ile106Met) c.393C>G (p.Ile131Met) c.15C>G (p.Ile5Met) c.399C>G (p.Ile133Met) c.132C>G (p.Ile44Met) c.279C>G (p.Ile93Met) n.338C>G c.396C>G (p.Ile132Met) c.507C>G (p.Ile169Met) | gnomAD v4 |
| 19 | g.1105732C>T | CA9037345 | GPX4 | c.510C>T (p.Ile170=) c.318C>T (p.Ile106=) c.393C>T (p.Ile131=) c.15C>T (p.Ile5=) c.399C>T (p.Ile133=) c.132C>T (p.Ile44=) c.279C>T (p.Ile93=) n.338C>T c.396C>T (p.Ile132=) c.507C>T (p.Ile169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1105733T>A | CA402937544 | GPX4 | c.511T>A (p.Cys171Ser) c.319T>A (p.Cys107Ser) c.394T>A (p.Cys132Ser) c.16T>A (p.Cys6Ser) c.400T>A (p.Cys134Ser) c.133T>A (p.Cys45Ser) c.280T>A (p.Cys94Ser) n.339T>A c.397T>A (p.Cys133Ser) c.508T>A (p.Cys170Ser) | |
| 19 | g.1105733T>C | CA402937545 | GPX4 | c.511T>C (p.Cys171Arg) c.319T>C (p.Cys107Arg) c.394T>C (p.Cys132Arg) c.16T>C (p.Cys6Arg) c.400T>C (p.Cys134Arg) c.133T>C (p.Cys45Arg) c.280T>C (p.Cys94Arg) n.339T>C c.397T>C (p.Cys133Arg) c.508T>C (p.Cys170Arg) | |
| 19 | g.1105733T>G | CA402937546 | GPX4 | c.511T>G (p.Cys171Gly) c.319T>G (p.Cys107Gly) c.394T>G (p.Cys132Gly) c.16T>G (p.Cys6Gly) c.400T>G (p.Cys134Gly) c.133T>G (p.Cys45Gly) c.280T>G (p.Cys94Gly) n.339T>G c.397T>G (p.Cys133Gly) c.508T>G (p.Cys170Gly) | |
| 19 | g.1105734G>A | CA402937549 | GPX4 | c.512G>A (p.Cys171Tyr) c.320G>A (p.Cys107Tyr) c.395G>A (p.Cys132Tyr) c.17G>A (p.Cys6Tyr) c.401G>A (p.Cys134Tyr) c.134G>A (p.Cys45Tyr) c.281G>A (p.Cys94Tyr) n.340G>A c.398G>A (p.Cys133Tyr) c.509G>A (p.Cys170Tyr) | |
| 19 | g.1105734G>C | CA402937548 | GPX4 | c.512G>C (p.Cys171Ser) c.320G>C (p.Cys107Ser) c.395G>C (p.Cys132Ser) c.17G>C (p.Cys6Ser) c.401G>C (p.Cys134Ser) c.134G>C (p.Cys45Ser) c.281G>C (p.Cys94Ser) n.340G>C c.398G>C (p.Cys133Ser) c.509G>C (p.Cys170Ser) | |
| 19 | g.1105734G>T | CA402937547 | GPX4 | c.512G>T (p.Cys171Phe) c.320G>T (p.Cys107Phe) c.395G>T (p.Cys132Phe) c.17G>T (p.Cys6Phe) c.401G>T (p.Cys134Phe) c.134G>T (p.Cys45Phe) c.281G>T (p.Cys94Phe) n.340G>T c.398G>T (p.Cys133Phe) c.509G>T (p.Cys170Phe) | |
| 19 | g.1105734_1105740delinsGCGTGAA | CA2317520111 | GPX4 | c.512_518delinsGCGTGAA (p.Cys171=) c.320_326delinsGCGTGAA (p.Cys107=) c.395_401delinsGCGTGAA (p.Cys132=) c.17_23delinsGCGTGAA (p.Cys6=) c.401_407delinsGCGTGAA (p.Cys134=) c.134_140delinsGCGTGAA (p.Cys45=) c.281_287delinsGCGTGAA (p.Cys94=) n.340_346delinsGCGTGAA c.398_404delinsGCGTGAA (p.Cys133=) c.509_515delinsGCGTGAA (p.Cys170=) | |
| 19 | g.1105735C>A | CA402937550 | GPX4 | c.513C>A (p.Cys171Ter) c.321C>A (p.Cys107Ter) c.396C>A (p.Cys132Ter) c.18C>A (p.Cys6Ter) c.402C>A (p.Cys134Ter) c.135C>A (p.Cys45Ter) c.282C>A (p.Cys94Ter) n.341C>A c.399C>A (p.Cys133Ter) c.510C>A (p.Cys170Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1105735C= | CA2317520112 | GPX4 | c.513C= (p.Cys171=) c.321C= (p.Cys107=) c.396C= (p.Cys132=) c.18C= (p.Cys6=) c.402C= (p.Cys134=) c.135C= (p.Cys45=) c.282C= (p.Cys94=) n.341C= c.399C= (p.Cys133=) c.510C= (p.Cys170=) | |
| 19 | g.1105735C>G | CA402937551 | GPX4 | c.513C>G (p.Cys171Trp) c.321C>G (p.Cys107Trp) c.396C>G (p.Cys132Trp) c.18C>G (p.Cys6Trp) c.402C>G (p.Cys134Trp) c.135C>G (p.Cys45Trp) c.282C>G (p.Cys94Trp) n.341C>G c.399C>G (p.Cys133Trp) c.510C>G (p.Cys170Trp) | |
| 19 | g.1105735C>T | CA9037346 | GPX4 | c.513C>T (p.Cys171=) c.321C>T (p.Cys107=) c.396C>T (p.Cys132=) c.18C>T (p.Cys6=) c.402C>T (p.Cys134=) c.135C>T (p.Cys45=) c.282C>T (p.Cys94=) n.341C>T c.399C>T (p.Cys133=) c.510C>T (p.Cys170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.1105737_1105742del | CA631018784 | GPX4 | c.515_520del (p.Val172_Asn173del) c.323_328del (p.Val108_Asn109del) c.398_403del (p.Val133_Asn134del) c.20_25del (p.Val7_Asn8del) c.404_409del (p.Val135_Asn136del) c.137_142del (p.Val46_Asn47del) c.284_289del (p.Val95_Asn96del) n.343_348del c.401_406del (p.Val134_Asn135del) c.512_517del (p.Val171_Asn172del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1105736G>A | CA402937552 | GPX4 | c.514G>A (p.Val172Met) c.322G>A (p.Val108Met) c.397G>A (p.Val133Met) c.19G>A (p.Val7Met) c.403G>A (p.Val135Met) c.136G>A (p.Val46Met) c.283G>A (p.Val95Met) n.342G>A c.400G>A (p.Val134Met) c.511G>A (p.Val171Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1105736G>C | CA402937553 | GPX4 | c.514G>C (p.Val172Leu) c.322G>C (p.Val108Leu) c.397G>C (p.Val133Leu) c.19G>C (p.Val7Leu) c.403G>C (p.Val135Leu) c.136G>C (p.Val46Leu) c.283G>C (p.Val95Leu) n.342G>C c.400G>C (p.Val134Leu) c.511G>C (p.Val171Leu) | gnomAD v4 |
| 19 | g.1105736G= | CA2317520113 | GPX4 | c.514G= (p.Val172=) c.322G= (p.Val108=) c.397G= (p.Val133=) c.19G= (p.Val7=) c.403G= (p.Val135=) c.136G= (p.Val46=) c.283G= (p.Val95=) n.342G= c.400G= (p.Val134=) c.511G= (p.Val171=) | |
| 19 | g.1105736G>T | CA402937554 | GPX4 | c.514G>T (p.Val172Leu) c.322G>T (p.Val108Leu) c.397G>T (p.Val133Leu) c.19G>T (p.Val7Leu) c.403G>T (p.Val135Leu) c.136G>T (p.Val46Leu) c.283G>T (p.Val95Leu) n.342G>T c.400G>T (p.Val134Leu) c.511G>T (p.Val171Leu) | |
| 19 | g.1105737T>A | CA402937555 | GPX4 | c.515T>A (p.Val172Glu) c.323T>A (p.Val108Glu) c.398T>A (p.Val133Glu) c.20T>A (p.Val7Glu) c.404T>A (p.Val135Glu) c.137T>A (p.Val46Glu) c.284T>A (p.Val95Glu) n.343T>A c.401T>A (p.Val134Glu) c.512T>A (p.Val171Glu) | |
| 19 | g.1105737T>C | CA402937556 | GPX4 | c.515T>C (p.Val172Ala) c.323T>C (p.Val108Ala) c.398T>C (p.Val133Ala) c.20T>C (p.Val7Ala) c.404T>C (p.Val135Ala) c.137T>C (p.Val46Ala) c.284T>C (p.Val95Ala) n.343T>C c.401T>C (p.Val134Ala) c.512T>C (p.Val171Ala) |