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 |
|---|---|---|---|---|---|
| 1 | g.155294527C>A | CA1144175 | PKLR | c.920G>T (p.Gly307Val) c.827G>T (p.Gly276Val) c.1079G>T (p.Gly360Val) c.728G>T (p.Gly243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294527C= | CA1200112200 | PKLR | c.920G= (p.Gly307=) c.827G= (p.Gly276=) c.1079G= (p.Gly360=) c.728G= (p.Gly243=) | |
| 1 | g.155294527C>G | CA342753870 | PKLR | c.920G>C (p.Gly307Ala) c.827G>C (p.Gly276Ala) c.1079G>C (p.Gly360Ala) c.728G>C (p.Gly243Ala) | |
| 1 | g.155294527C>T | CA342753866 | PKLR | c.920G>A (p.Gly307Asp) c.827G>A (p.Gly276Asp) c.1079G>A (p.Gly360Asp) c.728G>A (p.Gly243Asp) | |
| 1 | g.155294528C>A | CA342753873 | PKLR | c.919G>T (p.Gly307Cys) c.826G>T (p.Gly276Cys) c.1078G>T (p.Gly360Cys) c.727G>T (p.Gly243Cys) | |
| 1 | g.155294528C= | CA1143965198 | PKLR | c.919G= (p.Gly307=) c.826G= (p.Gly276=) c.1078G= (p.Gly360=) c.727G= (p.Gly243=) | |
| 1 | g.155294528C>G | CA1144177 | PKLR | c.919G>C (p.Gly307Arg) c.826G>C (p.Gly276Arg) c.1078G>C (p.Gly360Arg) c.727G>C (p.Gly243Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294528C>T | CA1144176 | PKLR | c.919G>A (p.Gly307Ser) c.826G>A (p.Gly276Ser) c.1078G>A (p.Gly360Ser) c.727G>A (p.Gly243Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294529G>A | CA1144179 | PKLR | c.918C>T (p.His306=) c.825C>T (p.His275=) c.1077C>T (p.His359=) c.726C>T (p.His242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155294529G>C | CA342753878 | PKLR | c.918C>G (p.His306Gln) c.825C>G (p.His275Gln) c.1077C>G (p.His359Gln) c.726C>G (p.His242Gln) | gnomAD v4 |
| 1 | g.155294529G= | CA1141813668 | PKLR | c.918C= (p.His306=) c.825C= (p.His275=) c.1077C= (p.His359=) c.726C= (p.His242=) | |
| 1 | g.155294529G>T | CA1144178 | PKLR | c.918C>A (p.His306Gln) c.825C>A (p.His275Gln) c.1077C>A (p.His359Gln) c.726C>A (p.His242Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294530T>A | CA342753882 | PKLR | c.917A>T (p.His306Leu) c.824A>T (p.His275Leu) c.1076A>T (p.His359Leu) c.725A>T (p.His242Leu) | |
| 1 | g.155294530T>C | CA342753883 | PKLR | c.917A>G (p.His306Arg) c.824A>G (p.His275Arg) c.1076A>G (p.His359Arg) c.725A>G (p.His242Arg) | dbSNP |
| 1 | g.155294530T>G | CA342753885 | PKLR | c.917A>C (p.His306Pro) c.824A>C (p.His275Pro) c.1076A>C (p.His359Pro) c.725A>C (p.His242Pro) | |
| 1 | g.155294530T= | CA1200112201 | PKLR | c.917A= (p.His306=) c.824A= (p.His275=) c.1076A= (p.His359=) c.725A= (p.His242=) | |
| 1 | g.155294531G>A | CA342753888 | PKLR | c.916C>T (p.His306Tyr) c.823C>T (p.His275Tyr) c.1075C>T (p.His359Tyr) c.724C>T (p.His242Tyr) | |
| 1 | g.155294531G>C | CA342753889 | PKLR | c.916C>G (p.His306Asp) c.823C>G (p.His275Asp) c.1075C>G (p.His359Asp) c.724C>G (p.His242Asp) | |
| 1 | g.155294531G>T | CA342753891 | PKLR | c.916C>A (p.His306Asn) c.823C>A (p.His275Asn) c.1075C>A (p.His359Asn) c.724C>A (p.His242Asn) | |
| 1 | g.155294532_155294539del | CA2586967535 | PKLR | c.909_916del (p.Glu304ArgfsTer9) c.816_823del (p.Glu273ArgfsTer9) c.1068_1075del (p.Glu357ArgfsTer9) c.717_724del (p.Glu240ArgfsTer9) | |
| 1 | g.155294532T>A | CA421245531 | PKLR | c.915A>T (p.Gly305=) c.822A>T (p.Gly274=) c.1074A>T (p.Gly358=) c.723A>T (p.Gly241=) | gnomAD v4 |
| 1 | g.155294532T>C | CA421245532 | PKLR | c.915A>G (p.Gly305=) c.822A>G (p.Gly274=) c.1074A>G (p.Gly358=) c.723A>G (p.Gly241=) | |
| 1 | g.155294532T>G | CA421245533 | PKLR | c.915A>C (p.Gly305=) c.822A>C (p.Gly274=) c.1074A>C (p.Gly358=) c.723A>C (p.Gly241=) | |
| 1 | g.155294533C>A | CA342753894 | PKLR | c.914G>T (p.Gly305Val) c.821G>T (p.Gly274Val) c.1073G>T (p.Gly358Val) c.722G>T (p.Gly241Val) | |
| 1 | g.155294533C>G | CA342753895 | PKLR | c.914G>C (p.Gly305Ala) c.821G>C (p.Gly274Ala) c.1073G>C (p.Gly358Ala) c.722G>C (p.Gly241Ala) | dbSNP |
| 1 | g.155294533C>T | CA342753897 | PKLR | c.914G>A (p.Gly305Glu) c.821G>A (p.Gly274Glu) c.1073G>A (p.Gly358Glu) c.722G>A (p.Gly241Glu) | dbSNP COSMIC |
| 1 | g.155294534_155294558del | CA2648269318 | PKLR | c.890_914del (p.Val297AspfsTer16) c.797_821del (p.Val266AspfsTer16) c.1049_1073del (p.Val350AspfsTer16) c.698_722del (p.Val233AspfsTer16) | gnomAD v4 |
| 1 | g.155294534C>A | CA342753900 | PKLR | c.913G>T (p.Gly305Ter) c.820G>T (p.Gly274Ter) c.1072G>T (p.Gly358Ter) c.721G>T (p.Gly241Ter) | |
| 1 | g.155294534C>G | CA342753904 | PKLR | c.913G>C (p.Gly305Arg) c.820G>C (p.Gly274Arg) c.1072G>C (p.Gly358Arg) c.721G>C (p.Gly241Arg) | |
| 1 | g.155294534C>T | CA342753902 | PKLR | c.913G>A (p.Gly305Arg) c.820G>A (p.Gly274Arg) c.1072G>A (p.Gly358Arg) c.721G>A (p.Gly241Arg) | dbSNP |
| 1 | g.155294535T>A | CA342753906 | PKLR | c.912A>T (p.Glu304Asp) c.819A>T (p.Glu273Asp) c.1071A>T (p.Glu357Asp) c.720A>T (p.Glu240Asp) | |
| 1 | g.155294535T>C | CA421245534 | PKLR | c.912A>G (p.Glu304=) c.819A>G (p.Glu273=) c.1071A>G (p.Glu357=) c.720A>G (p.Glu240=) | |
| 1 | g.155294535T>G | CA342753908 | PKLR | c.912A>C (p.Glu304Asp) c.819A>C (p.Glu273Asp) c.1071A>C (p.Glu357Asp) c.720A>C (p.Glu240Asp) | COSMIC |
| 1 | g.155294536T>A | CA342753911 | PKLR | c.911A>T (p.Glu304Val) c.818A>T (p.Glu273Val) c.1070A>T (p.Glu357Val) c.719A>T (p.Glu240Val) | |
| 1 | g.155294536T>C | CA342753913 | PKLR | c.911A>G (p.Glu304Gly) c.818A>G (p.Glu273Gly) c.1070A>G (p.Glu357Gly) c.719A>G (p.Glu240Gly) | |
| 1 | g.155294536T>G | CA342753914 | PKLR | c.911A>C (p.Glu304Ala) c.818A>C (p.Glu273Ala) c.1070A>C (p.Glu357Ala) c.719A>C (p.Glu240Ala) | |
| 1 | g.155294537C>A | CA342753917 | PKLR | c.910G>T (p.Glu304Ter) c.817G>T (p.Glu273Ter) c.1069G>T (p.Glu357Ter) c.718G>T (p.Glu240Ter) | |
| 1 | g.155294537C>G | CA342753919 | PKLR | c.910G>C (p.Glu304Gln) c.817G>C (p.Glu273Gln) c.1069G>C (p.Glu357Gln) c.718G>C (p.Glu240Gln) | |
| 1 | g.155294537C>T | CA342753920 | PKLR | c.910G>A (p.Glu304Lys) c.817G>A (p.Glu273Lys) c.1069G>A (p.Glu357Lys) c.718G>A (p.Glu240Lys) | |
| 1 | g.155294538C>A | CA421245538 | PKLR | c.909G>T (p.Pro303=) c.816G>T (p.Pro272=) c.1068G>T (p.Pro356=) c.717G>T (p.Pro239=) | |
| 1 | g.155294538C= | CA1143443726 | PKLR | c.909G= (p.Pro303=) c.816G= (p.Pro272=) c.1068G= (p.Pro356=) c.717G= (p.Pro239=) | |
| 1 | g.155294538C>G | CA1144180 | PKLR | c.909G>C (p.Pro303=) c.816G>C (p.Pro272=) c.1068G>C (p.Pro356=) c.717G>C (p.Pro239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294538C>T | CA421245539 | PKLR | c.909G>A (p.Pro303=) c.816G>A (p.Pro272=) c.1068G>A (p.Pro356=) c.717G>A (p.Pro239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294539G>A | CA1144181 | PKLR | c.908C>T (p.Pro303Leu) c.815C>T (p.Pro272Leu) c.1067C>T (p.Pro356Leu) c.716C>T (p.Pro239Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155294539G>C | CA342753928 | PKLR | c.908C>G (p.Pro303Arg) c.815C>G (p.Pro272Arg) c.1067C>G (p.Pro356Arg) c.716C>G (p.Pro239Arg) | |
| 1 | g.155294539G= | CA1148396536 | PKLR | c.908C= (p.Pro303=) c.815C= (p.Pro272=) c.1067C= (p.Pro356=) c.716C= (p.Pro239=) | |
| 1 | g.155294539G>T | CA342753925 | PKLR | c.908C>A (p.Pro303Gln) c.815C>A (p.Pro272Gln) c.1067C>A (p.Pro356Gln) c.716C>A (p.Pro239Gln) | dbSNP |
| 1 | g.155294539_155294540del | CA2586967536 | PKLR | c.907_908del (p.Pro303GlyfsTer12) c.814_815del (p.Pro272GlyfsTer12) c.1066_1067del (p.Pro356GlyfsTer12) c.715_716del (p.Pro239GlyfsTer12) | |
| 1 | g.155294540G>A | CA342753930 | PKLR | c.907C>T (p.Pro303Ser) c.814C>T (p.Pro272Ser) c.1066C>T (p.Pro356Ser) c.715C>T (p.Pro239Ser) | dbSNP |
| 1 | g.155294540G>C | CA1144182 | PKLR | c.907C>G (p.Pro303Ala) c.814C>G (p.Pro272Ala) c.1066C>G (p.Pro356Ala) c.715C>G (p.Pro239Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |