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.46897927T>A | CA352494398 | PTH1R | c.386T>A (p.Val129Glu) n.406T>A c.293T>A (p.Val98Glu) c.425T>A (p.Val142Glu) c.407T>A (p.Val136Glu) | |
| 3 | g.46897927T>C | CA352494403 | PTH1R | c.386T>C (p.Val129Ala) n.406T>C c.293T>C (p.Val98Ala) c.425T>C (p.Val142Ala) c.407T>C (p.Val136Ala) | |
| 3 | g.46897927T>G | CA352494401 | PTH1R | c.386T>G (p.Val129Gly) n.406T>G c.293T>G (p.Val98Gly) c.425T>G (p.Val142Gly) c.407T>G (p.Val136Gly) | |
| 3 | g.46897928G>A | CA433469061 | PTH1R | c.387G>A (p.Val129=) n.407G>A c.294G>A (p.Val98=) c.426G>A (p.Val142=) c.408G>A (p.Val136=) | |
| 3 | g.46897928G>C | CA433469062 | PTH1R | c.387G>C (p.Val129=) n.407G>C c.294G>C (p.Val98=) c.426G>C (p.Val142=) c.408G>C (p.Val136=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46897928G= | CA1362309740 | PTH1R | c.387G= (p.Val129=) n.407G= c.294G= (p.Val98=) c.426G= (p.Val142=) c.408G= (p.Val136=) | |
| 3 | g.46897928G>T | CA433469063 | PTH1R | c.387G>T (p.Val129=) n.407G>T c.294G>T (p.Val98=) c.426G>T (p.Val142=) c.408G>T (p.Val136=) | |
| 3 | g.46897929C>A | CA352494407 | PTH1R | c.388C>A (p.Pro130Thr) n.408C>A c.295C>A (p.Pro99Thr) c.427C>A (p.Pro143Thr) c.409C>A (p.Pro137Thr) | |
| 3 | g.46897929C= | CA1362309743 | PTH1R | c.388C= (p.Pro130=) n.408C= c.295C= (p.Pro99=) c.427C= (p.Pro143=) c.409C= (p.Pro137=) | |
| 3 | g.46897929C>G | CA352494411 | PTH1R | c.388C>G (p.Pro130Ala) n.408C>G c.295C>G (p.Pro99Ala) c.427C>G (p.Pro143Ala) c.409C>G (p.Pro137Ala) | |
| 3 | g.46897929C>T | CA2359156 | PTH1R | c.388C>T (p.Pro130Ser) n.408C>T c.295C>T (p.Pro99Ser) c.427C>T (p.Pro143Ser) c.409C>T (p.Pro137Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46897930C>A | CA352494414 | PTH1R | c.389C>A (p.Pro130His) n.409C>A c.296C>A (p.Pro99His) c.428C>A (p.Pro143His) c.410C>A (p.Pro137His) | |
| 3 | g.46897930C= | CA1362309747 | PTH1R | c.389C= (p.Pro130=) n.409C= c.296C= (p.Pro99=) c.428C= (p.Pro143=) c.410C= (p.Pro137=) | |
| 3 | g.46897930C>G | CA352494416 | PTH1R | c.389C>G (p.Pro130Arg) n.409C>G c.296C>G (p.Pro99Arg) c.428C>G (p.Pro143Arg) c.410C>G (p.Pro137Arg) | |
| 3 | g.46897930C>T | CA2359157 | PTH1R | c.389C>T (p.Pro130Leu) n.409C>T c.296C>T (p.Pro99Leu) c.428C>T (p.Pro143Leu) c.410C>T (p.Pro137Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.46897931C>A | CA433469082 | PTH1R | c.390C>A (p.Pro130=) n.410C>A c.297C>A (p.Pro99=) c.429C>A (p.Pro143=) c.411C>A (p.Pro137=) | |
| 3 | g.46897931C>G | CA433469085 | PTH1R | c.390C>G (p.Pro130=) n.410C>G c.297C>G (p.Pro99=) c.429C>G (p.Pro143=) c.411C>G (p.Pro137=) | |
| 3 | g.46897931C>T | CA433469076 | PTH1R | c.390C>T (p.Pro130=) n.410C>T c.297C>T (p.Pro99=) c.429C>T (p.Pro143=) c.411C>T (p.Pro137=) | COSMIC |
| 3 | g.46897932T>A | CA352494421 | PTH1R | c.391T>A (p.Cys131Ser) n.411T>A c.298T>A (p.Cys100Ser) c.430T>A (p.Cys144Ser) c.412T>A (p.Cys138Ser) | |
| 3 | g.46897932T>C | CA352494424 | PTH1R | c.391T>C (p.Cys131Arg) n.411T>C c.298T>C (p.Cys100Arg) c.430T>C (p.Cys144Arg) c.412T>C (p.Cys138Arg) | |
| 3 | g.46897932T>G | CA352494427 | PTH1R | c.391T>G (p.Cys131Gly) n.411T>G c.298T>G (p.Cys100Gly) c.430T>G (p.Cys144Gly) c.412T>G (p.Cys138Gly) | |
| 3 | g.46897933G>A | CA352494449 | PTH1R | c.392G>A (p.Cys131Tyr) n.412G>A c.299G>A (p.Cys100Tyr) c.431G>A (p.Cys144Tyr) c.413G>A (p.Cys138Tyr) | |
| 3 | g.46897933G>C | CA352494431 | PTH1R | c.392G>C (p.Cys131Ser) n.412G>C c.299G>C (p.Cys100Ser) c.431G>C (p.Cys144Ser) c.413G>C (p.Cys138Ser) | |
| 3 | g.46897933G>T | CA352494447 | PTH1R | c.392G>T (p.Cys131Phe) n.412G>T c.299G>T (p.Cys100Phe) c.431G>T (p.Cys144Phe) c.413G>T (p.Cys138Phe) | |
| 3 | g.46897934T>A | CA352494452 | PTH1R | c.393T>A (p.Cys131Ter) n.413T>A c.300T>A (p.Cys100Ter) c.432T>A (p.Cys144Ter) c.414T>A (p.Cys138Ter) | |
| 3 | g.46897934T>C | CA433469122 | PTH1R | c.393T>C (p.Cys131=) n.413T>C c.300T>C (p.Cys100=) c.432T>C (p.Cys144=) c.414T>C (p.Cys138=) | |
| 3 | g.46897934T>G | CA352494453 | PTH1R | c.393T>G (p.Cys131Trp) n.413T>G c.300T>G (p.Cys100Trp) c.432T>G (p.Cys144Trp) c.414T>G (p.Cys138Trp) | |
| 3 | g.46897935C>A | CA352494456 | PTH1R | c.394C>A (p.Pro132Thr) n.414C>A c.301C>A (p.Pro101Thr) c.433C>A (p.Pro145Thr) c.415C>A (p.Pro139Thr) | |
| 3 | g.46897935C= | CA1362309752 | PTH1R | c.394C= (p.Pro132=) n.414C= c.301C= (p.Pro101=) c.433C= (p.Pro145=) c.415C= (p.Pro139=) | |
| 3 | g.46897935C>G | CA352494459 | PTH1R | c.394C>G (p.Pro132Ala) n.414C>G c.301C>G (p.Pro101Ala) c.433C>G (p.Pro145Ala) c.415C>G (p.Pro139Ala) | |
| 3 | g.46897935C>T | CA73768884 | PTH1R | c.394C>T (p.Pro132Ser) n.414C>T c.301C>T (p.Pro101Ser) c.433C>T (p.Pro145Ser) c.415C>T (p.Pro139Ser) | dbSNP |
| 3 | g.46897936C>A | CA352494468 | PTH1R | c.395C>A (p.Pro132Gln) n.415C>A c.302C>A (p.Pro101Gln) c.434C>A (p.Pro145Gln) c.416C>A (p.Pro139Gln) | |
| 3 | g.46897936C= | CA1362309760 | PTH1R | c.395C= (p.Pro132=) n.415C= c.302C= (p.Pro101=) c.434C= (p.Pro145=) c.416C= (p.Pro139=) | |
| 3 | g.46897936C>G | CA352494464 | PTH1R | c.395C>G (p.Pro132Arg) n.415C>G c.302C>G (p.Pro101Arg) c.434C>G (p.Pro145Arg) c.416C>G (p.Pro139Arg) | ClinVar dbSNP |
| 3 | g.46897936C>T | CA123425 | PTH1R | c.395C>T (p.Pro132Leu) n.415C>T c.302C>T (p.Pro101Leu) c.434C>T (p.Pro145Leu) c.416C>T (p.Pro139Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.46897937G>A | CA2359158 | PTH1R | c.396G>A (p.Pro132=) n.416G>A c.303G>A (p.Pro101=) c.435G>A (p.Pro145=) c.417G>A (p.Pro139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46897937G>C | CA433469157 | PTH1R | c.396G>C (p.Pro132=) n.416G>C c.303G>C (p.Pro101=) c.435G>C (p.Pro145=) c.417G>C (p.Pro139=) | |
| 3 | g.46897937G= | CA1362309766 | PTH1R | c.396G= (p.Pro132=) n.416G= c.303G= (p.Pro101=) c.435G= (p.Pro145=) c.417G= (p.Pro139=) | |
| 3 | g.46897937G>T | CA433469154 | PTH1R | c.396G>T (p.Pro132=) n.416G>T c.303G>T (p.Pro101=) c.435G>T (p.Pro145=) c.417G>T (p.Pro139=) | gnomAD v4 |
| 3 | g.46897938G>A | CA73768896 | PTH1R | c.397G>A (p.Asp133Asn) n.417G>A c.304G>A (p.Asp102Asn) c.436G>A (p.Asp146Asn) c.418G>A (p.Asp140Asn) | dbSNP gnomAD v4 |
| 3 | g.46897938G>C | CA352494475 | PTH1R | c.397G>C (p.Asp133His) n.417G>C c.304G>C (p.Asp102His) c.436G>C (p.Asp146His) c.418G>C (p.Asp140His) | |
| 3 | g.46897938G= | CA1362309771 | PTH1R | c.397G= (p.Asp133=) n.417G= c.304G= (p.Asp102=) c.436G= (p.Asp146=) c.418G= (p.Asp140=) | |
| 3 | g.46897938G>T | CA352494480 | PTH1R | c.397G>T (p.Asp133Tyr) n.417G>T c.304G>T (p.Asp102Tyr) c.436G>T (p.Asp146Tyr) c.418G>T (p.Asp140Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46897939A= | CA1362309776 | PTH1R | c.398A= (p.Asp133=) n.418A= c.305A= (p.Asp102=) c.437A= (p.Asp146=) c.419A= (p.Asp140=) | |
| 3 | g.46897939A>C | CA2359159 | PTH1R | c.398A>C (p.Asp133Ala) n.418A>C c.305A>C (p.Asp102Ala) c.437A>C (p.Asp146Ala) c.419A>C (p.Asp140Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46897939A>G | CA352494488 | PTH1R | c.398A>G (p.Asp133Gly) n.418A>G c.305A>G (p.Asp102Gly) c.437A>G (p.Asp146Gly) c.419A>G (p.Asp140Gly) | COSMIC |
| 3 | g.46897939A>T | CA73768901 | PTH1R | c.398A>T (p.Asp133Val) n.418A>T c.305A>T (p.Asp102Val) c.437A>T (p.Asp146Val) c.419A>T (p.Asp140Val) | dbSNP |
| 3 | g.46897940C>A | CA352494495 | PTH1R | c.399C>A (p.Asp133Glu) n.419C>A c.306C>A (p.Asp102Glu) c.438C>A (p.Asp146Glu) c.420C>A (p.Asp140Glu) | |
| 3 | g.46897940C>G | CA352494498 | PTH1R | c.399C>G (p.Asp133Glu) n.419C>G c.306C>G (p.Asp102Glu) c.438C>G (p.Asp146Glu) c.420C>G (p.Asp140Glu) | |
| 3 | g.46897940C>T | CA433469201 | PTH1R | c.399C>T (p.Asp133=) n.419C>T c.306C>T (p.Asp102=) c.438C>T (p.Asp146=) c.420C>T (p.Asp140=) |