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.46897913T>A | CA433468901 | PTH1R | c.372T>A (p.Gly124=) n.392T>A c.279T>A (p.Gly93=) c.411T>A (p.Gly137=) c.393T>A (p.Gly131=) | |
| 3 | g.46897913T>C | CA433468902 | PTH1R | c.372T>C (p.Gly124=) n.392T>C c.279T>C (p.Gly93=) c.411T>C (p.Gly137=) c.393T>C (p.Gly131=) | |
| 3 | g.46897913T>G | CA433468903 | PTH1R | c.372T>G (p.Gly124=) n.392T>G c.279T>G (p.Gly93=) c.411T>G (p.Gly137=) c.393T>G (p.Gly131=) | |
| 3 | g.46897914G>A | CA352494322 | PTH1R | c.373G>A (p.Glu125Lys) n.393G>A c.280G>A (p.Glu94Lys) c.412G>A (p.Glu138Lys) c.394G>A (p.Glu132Lys) | dbSNP gnomAD v2 |
| 3 | g.46897914G>C | CA352494324 | PTH1R | c.373G>C (p.Glu125Gln) n.393G>C c.280G>C (p.Glu94Gln) c.412G>C (p.Glu138Gln) c.394G>C (p.Glu132Gln) | COSMIC |
| 3 | g.46897914G= | CA1362309724 | PTH1R | c.373G= (p.Glu125=) n.393G= c.280G= (p.Glu94=) c.412G= (p.Glu138=) c.394G= (p.Glu132=) | |
| 3 | g.46897914G>T | CA352494326 | PTH1R | c.373G>T (p.Glu125Ter) n.393G>T c.280G>T (p.Glu94Ter) c.412G>T (p.Glu138Ter) c.394G>T (p.Glu132Ter) | |
| 3 | g.46897915A>C | CA352494330 | PTH1R | c.374A>C (p.Glu125Ala) n.394A>C c.281A>C (p.Glu94Ala) c.413A>C (p.Glu138Ala) c.395A>C (p.Glu132Ala) | gnomAD v4 |
| 3 | g.46897915A>G | CA352494332 | PTH1R | c.374A>G (p.Glu125Gly) n.394A>G c.281A>G (p.Glu94Gly) c.413A>G (p.Glu138Gly) c.395A>G (p.Glu132Gly) | |
| 3 | g.46897915A>T | CA352494335 | PTH1R | c.374A>T (p.Glu125Val) n.394A>T c.281A>T (p.Glu94Val) c.413A>T (p.Glu138Val) c.395A>T (p.Glu132Val) | |
| 3 | g.46897916G>A | CA2359155 | PTH1R | c.375G>A (p.Glu125=) n.395G>A c.282G>A (p.Glu94=) c.414G>A (p.Glu138=) c.396G>A (p.Glu132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46897916G>C | CA352494339 | PTH1R | c.375G>C (p.Glu125Asp) n.395G>C c.282G>C (p.Glu94Asp) c.414G>C (p.Glu138Asp) c.396G>C (p.Glu132Asp) | |
| 3 | g.46897916G= | CA1362309729 | PTH1R | c.375G= (p.Glu125=) n.395G= c.282G= (p.Glu94=) c.414G= (p.Glu138=) c.396G= (p.Glu132=) | |
| 3 | g.46897916G>T | CA352494342 | PTH1R | c.375G>T (p.Glu125Asp) n.395G>T c.282G>T (p.Glu94Asp) c.414G>T (p.Glu138Asp) c.396G>T (p.Glu132Asp) | |
| 3 | g.46897917G>A | CA352494345 | PTH1R | c.376G>A (p.Val126Met) n.396G>A c.283G>A (p.Val95Met) c.415G>A (p.Val139Met) c.397G>A (p.Val133Met) | gnomAD v4 |
| 3 | g.46897917G>C | CA352494347 | PTH1R | c.376G>C (p.Val126Leu) n.396G>C c.283G>C (p.Val95Leu) c.415G>C (p.Val139Leu) c.397G>C (p.Val133Leu) | gnomAD v4 |
| 3 | g.46897917G>T | CA352494350 | PTH1R | c.376G>T (p.Val126Leu) n.396G>T c.283G>T (p.Val95Leu) c.415G>T (p.Val139Leu) c.397G>T (p.Val133Leu) | gnomAD v4 |
| 3 | g.46897918T>A | CA352494356 | PTH1R | c.377T>A (p.Val126Glu) n.397T>A c.284T>A (p.Val95Glu) c.416T>A (p.Val139Glu) c.398T>A (p.Val133Glu) | |
| 3 | g.46897918T>C | CA352494354 | PTH1R | c.377T>C (p.Val126Ala) n.397T>C c.284T>C (p.Val95Ala) c.416T>C (p.Val139Ala) c.398T>C (p.Val133Ala) | |
| 3 | g.46897918T>G | CA352494353 | PTH1R | c.377T>G (p.Val126Gly) n.397T>G c.284T>G (p.Val95Gly) c.416T>G (p.Val139Gly) c.398T>G (p.Val133Gly) | |
| 3 | g.46897919G>A | CA433468953 | PTH1R | c.378G>A (p.Val126=) n.398G>A c.285G>A (p.Val95=) c.417G>A (p.Val139=) c.399G>A (p.Val133=) | |
| 3 | g.46897919G>C | CA433468958 | PTH1R | c.378G>C (p.Val126=) n.398G>C c.285G>C (p.Val95=) c.417G>C (p.Val139=) c.399G>C (p.Val133=) | |
| 3 | g.46897919G>T | CA433468960 | PTH1R | c.378G>T (p.Val126=) n.398G>T c.285G>T (p.Val95=) c.417G>T (p.Val139=) c.399G>T (p.Val133=) | |
| 3 | g.46897920G>A | CA352494360 | PTH1R | c.379G>A (p.Val127Met) n.399G>A c.286G>A (p.Val96Met) c.418G>A (p.Val140Met) c.400G>A (p.Val134Met) | ClinVar |
| 3 | g.46897920G>C | CA352494362 | PTH1R | c.379G>C (p.Val127Leu) n.399G>C c.286G>C (p.Val96Leu) c.418G>C (p.Val140Leu) c.400G>C (p.Val134Leu) | |
| 3 | g.46897920G>T | CA352494364 | PTH1R | c.379G>T (p.Val127Leu) n.399G>T c.286G>T (p.Val96Leu) c.418G>T (p.Val140Leu) c.400G>T (p.Val134Leu) | |
| 3 | g.46897921T>A | CA352494368 | PTH1R | c.380T>A (p.Val127Glu) n.400T>A c.287T>A (p.Val96Glu) c.419T>A (p.Val140Glu) c.401T>A (p.Val134Glu) | ClinVar |
| 3 | g.46897921T>C | CA352494369 | PTH1R | c.380T>C (p.Val127Ala) n.400T>C c.287T>C (p.Val96Ala) c.419T>C (p.Val140Ala) c.401T>C (p.Val134Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46897921T>G | CA352494372 | PTH1R | c.380T>G (p.Val127Gly) n.400T>G c.287T>G (p.Val96Gly) c.419T>G (p.Val140Gly) c.401T>G (p.Val134Gly) | |
| 3 | g.46897921T= | CA1362309733 | PTH1R | c.380T= (p.Val127=) n.400T= c.287T= (p.Val96=) c.419T= (p.Val140=) c.401T= (p.Val134=) | |
| 3 | g.46897922G>A | CA433469000 | PTH1R | c.381G>A (p.Val127=) n.401G>A c.288G>A (p.Val96=) c.420G>A (p.Val140=) c.402G>A (p.Val134=) | |
| 3 | g.46897922G>C | CA433469004 | PTH1R | c.381G>C (p.Val127=) n.401G>C c.288G>C (p.Val96=) c.420G>C (p.Val140=) c.402G>C (p.Val134=) | |
| 3 | g.46897922G>T | CA433469005 | PTH1R | c.381G>T (p.Val127=) n.401G>T c.288G>T (p.Val96=) c.420G>T (p.Val140=) c.402G>T (p.Val134=) | |
| 3 | g.46897923G>A | CA352494375 | PTH1R | c.382G>A (p.Ala128Thr) n.402G>A c.289G>A (p.Ala97Thr) c.421G>A (p.Ala141Thr) c.403G>A (p.Ala135Thr) | |
| 3 | g.46897923G>C | CA352494377 | PTH1R | c.382G>C (p.Ala128Pro) n.402G>C c.289G>C (p.Ala97Pro) c.421G>C (p.Ala141Pro) c.403G>C (p.Ala135Pro) | |
| 3 | g.46897923G>T | CA352494379 | PTH1R | c.382G>T (p.Ala128Ser) n.402G>T c.289G>T (p.Ala97Ser) c.421G>T (p.Ala141Ser) c.403G>T (p.Ala135Ser) | |
| 3 | g.46897924C>A | CA352494383 | PTH1R | c.383C>A (p.Ala128Asp) n.403C>A c.290C>A (p.Ala97Asp) c.422C>A (p.Ala141Asp) c.404C>A (p.Ala135Asp) | |
| 3 | g.46897924C= | CA1362309737 | PTH1R | c.383C= (p.Ala128=) n.403C= c.290C= (p.Ala97=) c.422C= (p.Ala141=) c.404C= (p.Ala135=) | |
| 3 | g.46897924C>G | CA352494386 | PTH1R | c.383C>G (p.Ala128Gly) n.403C>G c.290C>G (p.Ala97Gly) c.422C>G (p.Ala141Gly) c.404C>G (p.Ala135Gly) | |
| 3 | g.46897924C>T | CA73768867 | PTH1R | c.383C>T (p.Ala128Val) n.403C>T c.290C>T (p.Ala97Val) c.422C>T (p.Ala141Val) c.404C>T (p.Ala135Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.46897925T>A | CA433469033 | PTH1R | c.384T>A (p.Ala128=) n.404T>A c.291T>A (p.Ala97=) c.423T>A (p.Ala141=) c.405T>A (p.Ala135=) | |
| 3 | g.46897925T>C | CA433469038 | PTH1R | c.384T>C (p.Ala128=) n.404T>C c.291T>C (p.Ala97=) c.423T>C (p.Ala141=) c.405T>C (p.Ala135=) | |
| 3 | g.46897925T>G | CA433469042 | PTH1R | c.384T>G (p.Ala128=) n.404T>G c.291T>G (p.Ala97=) c.423T>G (p.Ala141=) c.405T>G (p.Ala135=) | |
| 3 | g.46897926G>A | CA352494391 | PTH1R | c.385G>A (p.Val129Met) n.405G>A c.292G>A (p.Val98Met) c.424G>A (p.Val142Met) c.406G>A (p.Val136Met) | |
| 3 | g.46897926G>C | CA352494395 | PTH1R | c.385G>C (p.Val129Leu) n.405G>C c.292G>C (p.Val98Leu) c.424G>C (p.Val142Leu) c.406G>C (p.Val136Leu) | |
| 3 | g.46897926G>T | CA352494393 | PTH1R | c.385G>T (p.Val129Leu) n.405G>T c.292G>T (p.Val98Leu) c.424G>T (p.Val142Leu) c.406G>T (p.Val136Leu) | |
| 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=) |