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.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=) | |
| 3 | g.46897941T>A | CA352494505 | PTH1R | c.400T>A (p.Tyr134Asn) n.420T>A c.307T>A (p.Tyr103Asn) c.439T>A (p.Tyr147Asn) c.421T>A (p.Tyr141Asn) | |
| 3 | g.46897941T>C | CA352494509 | PTH1R | c.400T>C (p.Tyr134His) n.420T>C c.307T>C (p.Tyr103His) c.439T>C (p.Tyr147His) c.421T>C (p.Tyr141His) | gnomAD v4 |
| 3 | g.46897941T>G | CA2359160 | PTH1R | c.400T>G (p.Tyr134Asp) n.420T>G c.307T>G (p.Tyr103Asp) c.439T>G (p.Tyr147Asp) c.421T>G (p.Tyr141Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46897941T= | CA1362309780 | PTH1R | c.400T= (p.Tyr134=) n.420T= c.307T= (p.Tyr103=) c.439T= (p.Tyr147=) c.421T= (p.Tyr141=) | |
| 3 | g.46897942A= | CA1362309789 | PTH1R | c.401A= (p.Tyr134=) n.421A= c.308A= (p.Tyr103=) c.440A= (p.Tyr147=) c.422A= (p.Tyr141=) | |
| 3 | g.46897942A>C | CA352494568 | PTH1R | c.401A>C (p.Tyr134Ser) n.421A>C c.308A>C (p.Tyr103Ser) c.440A>C (p.Tyr147Ser) c.422A>C (p.Tyr141Ser) | ClinVar dbSNP |
| 3 | g.46897942A>G | CA352494516 | PTH1R | c.401A>G (p.Tyr134Cys) n.421A>G c.308A>G (p.Tyr103Cys) c.440A>G (p.Tyr147Cys) c.422A>G (p.Tyr141Cys) | |
| 3 | g.46897942A>T | CA352494519 | PTH1R | c.401A>T (p.Tyr134Phe) n.421A>T c.308A>T (p.Tyr103Phe) c.440A>T (p.Tyr147Phe) c.422A>T (p.Tyr141Phe) | gnomAD v4 |
| 3 | g.46897943C>A | CA352494573 | PTH1R | c.402C>A (p.Tyr134Ter) n.422C>A c.309C>A (p.Tyr103Ter) c.441C>A (p.Tyr147Ter) c.423C>A (p.Tyr141Ter) | |
| 3 | g.46897943C>G | CA352494575 | PTH1R | c.402C>G (p.Tyr134Ter) n.422C>G c.309C>G (p.Tyr103Ter) c.441C>G (p.Tyr147Ter) c.423C>G (p.Tyr141Ter) | dbSNP |
| 3 | g.46897943C>T | CA433469249 | PTH1R | c.402C>T (p.Tyr134=) n.422C>T c.309C>T (p.Tyr103=) c.441C>T (p.Tyr147=) c.423C>T (p.Tyr141=) | |
| 3 | g.46897944A>C | CA352494579 | PTH1R | c.403A>C (p.Ile135Leu) n.423A>C c.310A>C (p.Ile104Leu) c.442A>C (p.Ile148Leu) c.424A>C (p.Ile142Leu) | |
| 3 | g.46897944A>G | CA352494581 | PTH1R | c.403A>G (p.Ile135Val) n.423A>G c.310A>G (p.Ile104Val) c.442A>G (p.Ile148Val) c.424A>G (p.Ile142Val) | |
| 3 | g.46897944A>T | CA352494584 | PTH1R | c.403A>T (p.Ile135Phe) n.423A>T c.310A>T (p.Ile104Phe) c.442A>T (p.Ile148Phe) c.424A>T (p.Ile142Phe) | |
| 3 | g.46897945T>A | CA2359161 | PTH1R | c.404T>A (p.Ile135Asn) n.424T>A c.311T>A (p.Ile104Asn) c.443T>A (p.Ile148Asn) c.425T>A (p.Ile142Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46897945T>C | CA352494592 | PTH1R | c.404T>C (p.Ile135Thr) n.424T>C c.311T>C (p.Ile104Thr) c.443T>C (p.Ile148Thr) c.425T>C (p.Ile142Thr) | |
| 3 | g.46897945T>G | CA352494596 | PTH1R | c.404T>G (p.Ile135Ser) n.424T>G c.311T>G (p.Ile104Ser) c.443T>G (p.Ile148Ser) c.425T>G (p.Ile142Ser) | |
| 3 | g.46897945T= | CA1362309793 | PTH1R | c.404T= (p.Ile135=) n.424T= c.311T= (p.Ile104=) c.443T= (p.Ile148=) c.425T= (p.Ile142=) | |
| 3 | g.46897946T>A | CA433469291 | PTH1R | c.405T>A (p.Ile135=) n.425T>A c.312T>A (p.Ile104=) c.444T>A (p.Ile148=) c.426T>A (p.Ile142=) | |
| 3 | g.46897946T>C | CA433469297 | PTH1R | c.405T>C (p.Ile135=) n.425T>C c.312T>C (p.Ile104=) c.444T>C (p.Ile148=) c.426T>C (p.Ile142=) | |
| 3 | g.46897946T>G | CA352494606 | PTH1R | c.405T>G (p.Ile135Met) n.425T>G c.312T>G (p.Ile104Met) c.444T>G (p.Ile148Met) c.426T>G (p.Ile142Met) | |
| 3 | g.46897947T>A | CA352494610 | PTH1R | c.406T>A (p.Tyr136Asn) n.426T>A c.313T>A (p.Tyr105Asn) c.445T>A (p.Tyr149Asn) c.427T>A (p.Tyr143Asn) | gnomAD v4 |
| 3 | g.46897947T>C | CA352494611 | PTH1R | c.406T>C (p.Tyr136His) n.426T>C c.313T>C (p.Tyr105His) c.445T>C (p.Tyr149His) c.427T>C (p.Tyr143His) | |
| 3 | g.46897947T>G | CA352494612 | PTH1R | c.406T>G (p.Tyr136Asp) n.426T>G c.313T>G (p.Tyr105Asp) c.445T>G (p.Tyr149Asp) c.427T>G (p.Tyr143Asp) |