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.1105717T>A | CA402937508 | GPX4 | c.495T>A (p.Asp165Glu) c.303T>A (p.Asp101Glu) c.378T>A (p.Asp126Glu) c.-1T>A (n.-1T>A) c.384T>A (p.Asp128Glu) c.117T>A (p.Asp39Glu) c.264T>A (p.Asp88Glu) n.323T>A c.381T>A (p.Asp127Glu) c.492T>A (p.Asp164Glu) | |
| 19 | g.1105717T>C | CA9037340 | GPX4 | c.495T>C (p.Asp165=) c.303T>C (p.Asp101=) c.378T>C (p.Asp126=) c.-1T>C (n.-1T>C) c.384T>C (p.Asp128=) c.117T>C (p.Asp39=) c.264T>C (p.Asp88=) n.323T>C c.381T>C (p.Asp127=) c.492T>C (p.Asp164=) | dbSNP ExAC gnomAD v2 |
| 19 | g.1105717T>G | CA402937507 | GPX4 | c.495T>G (p.Asp165Glu) c.303T>G (p.Asp101Glu) c.378T>G (p.Asp126Glu) c.-1T>G (n.-1T>G) c.384T>G (p.Asp128Glu) c.117T>G (p.Asp39Glu) c.264T>G (p.Asp88Glu) n.323T>G c.381T>G (p.Asp127Glu) c.492T>G (p.Asp164Glu) | |
| 19 | g.1105717T= | CA2317520103 | GPX4 | c.495T= (p.Asp165=) c.303T= (p.Asp101=) c.378T= (p.Asp126=) c.-1T= (n.-1T=) c.384T= (p.Asp128=) c.117T= (p.Asp39=) c.264T= (p.Asp88=) n.323T= c.381T= (p.Asp127=) c.492T= (p.Asp164=) | |
| 19 | g.1105718A= | CA2317520104 | GPX4 | c.496A= (p.Met166=) c.304A= (p.Met102=) c.379A= (p.Met127=) c.1A= (p.Met1=) c.385A= (p.Met129=) c.118A= (p.Met40=) c.265A= (p.Met89=) n.324A= c.382A= (p.Met128=) c.493A= (p.Met165=) | |
| 19 | g.1105718A>C | CA402937509 | GPX4 | c.496A>C (p.Met166Leu) c.304A>C (p.Met102Leu) c.379A>C (p.Met127Leu) c.1A>C (p.Met1Leu) c.385A>C (p.Met129Leu) c.118A>C (p.Met40Leu) c.265A>C (p.Met89Leu) n.324A>C c.382A>C (p.Met128Leu) c.493A>C (p.Met165Leu) | |
| 19 | g.1105718A>G | CA9037341 | GPX4 | c.496A>G (p.Met166Val) c.304A>G (p.Met102Val) c.379A>G (p.Met127Val) c.1A>G (p.Met1Val) c.385A>G (p.Met129Val) c.118A>G (p.Met40Val) c.265A>G (p.Met89Val) n.324A>G c.382A>G (p.Met128Val) c.493A>G (p.Met165Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1105718A>T | CA9037342 | GPX4 | c.496A>T (p.Met166Leu) c.304A>T (p.Met102Leu) c.379A>T (p.Met127Leu) c.1A>T (p.Met1Leu) c.385A>T (p.Met129Leu) c.118A>T (p.Met40Leu) c.265A>T (p.Met89Leu) n.324A>T c.382A>T (p.Met128Leu) c.493A>T (p.Met165Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1105719T>A | CA402937510 | GPX4 | c.497T>A (p.Met166Lys) c.305T>A (p.Met102Lys) c.380T>A (p.Met127Lys) c.2T>A (p.Met1Lys) c.386T>A (p.Met129Lys) c.119T>A (p.Met40Lys) c.266T>A (p.Met89Lys) n.325T>A c.383T>A (p.Met128Lys) c.494T>A (p.Met165Lys) | gnomAD v4 |
| 19 | g.1105719T>C | CA402937511 | GPX4 | c.497T>C (p.Met166Thr) c.305T>C (p.Met102Thr) c.380T>C (p.Met127Thr) c.2T>C (p.Met1Thr) c.386T>C (p.Met129Thr) c.119T>C (p.Met40Thr) c.266T>C (p.Met89Thr) n.325T>C c.383T>C (p.Met128Thr) c.494T>C (p.Met165Thr) | dbSNP |
| 19 | g.1105719T>G | CA402937512 | GPX4 | c.497T>G (p.Met166Arg) c.305T>G (p.Met102Arg) c.380T>G (p.Met127Arg) c.2T>G (p.Met1Arg) c.386T>G (p.Met129Arg) c.119T>G (p.Met40Arg) c.266T>G (p.Met89Arg) n.325T>G c.383T>G (p.Met128Arg) c.494T>G (p.Met165Arg) | |
| 19 | g.1105719T= | CA2317520105 | GPX4 | c.497T= (p.Met166=) c.305T= (p.Met102=) c.380T= (p.Met127=) c.2T= (p.Met1=) c.386T= (p.Met129=) c.119T= (p.Met40=) c.266T= (p.Met89=) n.325T= c.383T= (p.Met128=) c.494T= (p.Met165=) | |
| 19 | g.1105720G>A | CA402937513 | GPX4 | c.498G>A (p.Met166Ile) c.306G>A (p.Met102Ile) c.381G>A (p.Met127Ile) c.3G>A (p.Met1Ile) c.387G>A (p.Met129Ile) c.120G>A (p.Met40Ile) c.267G>A (p.Met89Ile) n.326G>A c.384G>A (p.Met128Ile) c.495G>A (p.Met165Ile) | |
| 19 | g.1105720G>C | CA402937514 | GPX4 | c.498G>C (p.Met166Ile) c.306G>C (p.Met102Ile) c.381G>C (p.Met127Ile) c.3G>C (p.Met1Ile) c.387G>C (p.Met129Ile) c.120G>C (p.Met40Ile) c.267G>C (p.Met89Ile) n.326G>C c.384G>C (p.Met128Ile) c.495G>C (p.Met165Ile) | |
| 19 | g.1105720G>T | CA402937515 | GPX4 | c.498G>T (p.Met166Ile) c.306G>T (p.Met102Ile) c.381G>T (p.Met127Ile) c.3G>T (p.Met1Ile) c.387G>T (p.Met129Ile) c.120G>T (p.Met40Ile) c.267G>T (p.Met89Ile) n.326G>T c.384G>T (p.Met128Ile) c.495G>T (p.Met165Ile) | gnomAD v4 |
| 19 | g.1105721T>A | CA402937516 | GPX4 | c.499T>A (p.Phe167Ile) c.307T>A (p.Phe103Ile) c.382T>A (p.Phe128Ile) c.4T>A (p.Phe2Ile) c.388T>A (p.Phe130Ile) c.121T>A (p.Phe41Ile) c.268T>A (p.Phe90Ile) n.327T>A c.385T>A (p.Phe129Ile) c.496T>A (p.Phe166Ile) | |
| 19 | g.1105721T>C | CA402937517 | GPX4 | c.499T>C (p.Phe167Leu) c.307T>C (p.Phe103Leu) c.382T>C (p.Phe128Leu) c.4T>C (p.Phe2Leu) c.388T>C (p.Phe130Leu) c.121T>C (p.Phe41Leu) c.268T>C (p.Phe90Leu) n.327T>C c.385T>C (p.Phe129Leu) c.496T>C (p.Phe166Leu) | |
| 19 | g.1105721T>G | CA402937518 | GPX4 | c.499T>G (p.Phe167Val) c.307T>G (p.Phe103Val) c.382T>G (p.Phe128Val) c.4T>G (p.Phe2Val) c.388T>G (p.Phe130Val) c.121T>G (p.Phe41Val) c.268T>G (p.Phe90Val) n.327T>G c.385T>G (p.Phe129Val) c.496T>G (p.Phe166Val) | |
| 19 | g.1105722T>A | CA402937521 | GPX4 | c.500T>A (p.Phe167Tyr) c.308T>A (p.Phe103Tyr) c.383T>A (p.Phe128Tyr) c.5T>A (p.Phe2Tyr) c.389T>A (p.Phe130Tyr) c.122T>A (p.Phe41Tyr) c.269T>A (p.Phe90Tyr) n.328T>A c.386T>A (p.Phe129Tyr) c.497T>A (p.Phe166Tyr) | |
| 19 | g.1105722T>C | CA402937520 | GPX4 | c.500T>C (p.Phe167Ser) c.308T>C (p.Phe103Ser) c.383T>C (p.Phe128Ser) c.5T>C (p.Phe2Ser) c.389T>C (p.Phe130Ser) c.122T>C (p.Phe41Ser) c.269T>C (p.Phe90Ser) n.328T>C c.386T>C (p.Phe129Ser) c.497T>C (p.Phe166Ser) | |
| 19 | g.1105722T>G | CA402937519 | GPX4 | c.500T>G (p.Phe167Cys) c.308T>G (p.Phe103Cys) c.383T>G (p.Phe128Cys) c.5T>G (p.Phe2Cys) c.389T>G (p.Phe130Cys) c.122T>G (p.Phe41Cys) c.269T>G (p.Phe90Cys) n.328T>G c.386T>G (p.Phe129Cys) c.497T>G (p.Phe166Cys) | |
| 19 | g.1105723C>A | CA402937522 | GPX4 | c.501C>A (p.Phe167Leu) c.309C>A (p.Phe103Leu) c.384C>A (p.Phe128Leu) c.6C>A (p.Phe2Leu) c.390C>A (p.Phe130Leu) c.123C>A (p.Phe41Leu) c.270C>A (p.Phe90Leu) n.329C>A c.387C>A (p.Phe129Leu) c.498C>A (p.Phe166Leu) | gnomAD v4 |
| 19 | g.1105723C= | CA2317520106 | GPX4 | c.501C= (p.Phe167=) c.309C= (p.Phe103=) c.384C= (p.Phe128=) c.6C= (p.Phe2=) c.390C= (p.Phe130=) c.123C= (p.Phe41=) c.270C= (p.Phe90=) n.329C= c.387C= (p.Phe129=) c.498C= (p.Phe166=) | |
| 19 | g.1105723C>G | CA402937523 | GPX4 | c.501C>G (p.Phe167Leu) c.309C>G (p.Phe103Leu) c.384C>G (p.Phe128Leu) c.6C>G (p.Phe2Leu) c.390C>G (p.Phe130Leu) c.123C>G (p.Phe41Leu) c.270C>G (p.Phe90Leu) n.329C>G c.387C>G (p.Phe129Leu) c.498C>G (p.Phe166Leu) | |
| 19 | g.1105723C>T | CA504694595 | GPX4 | c.501C>T (p.Phe167=) c.309C>T (p.Phe103=) c.384C>T (p.Phe128=) c.6C>T (p.Phe2=) c.390C>T (p.Phe130=) c.123C>T (p.Phe41=) c.270C>T (p.Phe90=) n.329C>T c.387C>T (p.Phe129=) c.498C>T (p.Phe166=) | dbSNP gnomAD v2 gnomAD v4 |
| 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) |