WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564133_21564143delinsAG | CA2586964027 | ALPL | c.565_575delinsAG (p.Asp189_Met192delinsArg) n.625_635delinsAG c.334_344delinsAG (p.Asp112_Met115delinsArg) c.400_410delinsAG (p.Asp134_Met137delinsArg) c.409_419delinsAG (p.Asp137_Met140delinsArg) | |
| 1 | g.21564142_21564143del | CA2643930483 | ALPL | c.574_575del (p.Met192AlafsTer3) n.634_635del c.343_344del (p.Met115AlafsTer3) c.409_410del (p.Met137AlafsTer3) c.418_419del (p.Met140AlafsTer3) | gnomAD v4 |
| 1 | g.21564143T>A | CA338878114 | ALPL | c.575T>A (p.Met192Lys) n.635T>A c.344T>A (p.Met115Lys) c.410T>A (p.Met137Lys) c.419T>A (p.Met140Lys) | |
| 1 | g.21564143T>C | CA666534 | ALPL | c.575T>C (p.Met192Thr) n.635T>C c.344T>C (p.Met115Thr) c.410T>C (p.Met137Thr) c.419T>C (p.Met140Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21564143T>G | CA338878116 | ALPL | c.575T>G (p.Met192Arg) n.635T>G c.344T>G (p.Met115Arg) c.410T>G (p.Met137Arg) c.419T>G (p.Met140Arg) | |
| 1 | g.21564143T= | CA1158014478 | ALPL | c.575T= (p.Met192=) n.635T= c.344T= (p.Met115=) c.410T= (p.Met137=) c.419T= (p.Met140=) | |
| 1 | g.21564144G>A | CA338878120 | ALPL | c.576G>A (p.Met192Ile) n.636G>A c.345G>A (p.Met115Ile) c.411G>A (p.Met137Ile) c.420G>A (p.Met140Ile) | gnomAD v4 |
| 1 | g.21564144G>C | CA338878126 | ALPL | c.576G>C (p.Met192Ile) n.636G>C c.345G>C (p.Met115Ile) c.411G>C (p.Met137Ile) c.420G>C (p.Met140Ile) | |
| 1 | g.21564144G>T | CA338878119 | ALPL | c.576G>T (p.Met192Ile) n.636G>T c.345G>T (p.Met115Ile) c.411G>T (p.Met137Ile) c.420G>T (p.Met140Ile) | |
| 1 | g.21564144_21564145delinsGC | CA1158014479 | ALPL | c.576_577delinsGC (p.Met192=) n.636_637delinsGC c.345_346delinsGC (p.Met115=) c.411_412delinsGC (p.Met137=) c.420_421delinsGC (p.Met140=) | |
| 1 | g.21564145C>A | CA338878134 | ALPL | c.577C>A (p.Pro193Thr) n.637C>A c.346C>A (p.Pro116Thr) c.412C>A (p.Pro138Thr) c.421C>A (p.Pro141Thr) | |
| 1 | g.21564145C= | CA1158014480 | ALPL | c.577C= (p.Pro193=) n.637C= c.346C= (p.Pro116=) c.412C= (p.Pro138=) c.421C= (p.Pro141=) | |
| 1 | g.21564145C>G | CA338878129 | ALPL | c.577C>G (p.Pro193Ala) n.637C>G c.346C>G (p.Pro116Ala) c.412C>G (p.Pro138Ala) c.421C>G (p.Pro141Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21564145C>T | CA338878132 | ALPL | c.577C>T (p.Pro193Ser) n.637C>T c.346C>T (p.Pro116Ser) c.412C>T (p.Pro138Ser) c.421C>T (p.Pro141Ser) | |
| 1 | g.21564149dup | CA521900001 | ALPL | c.581dup (p.Glu195Ter) n.641dup c.350dup (p.Glu118Ter) c.416dup (p.Glu140Ter) c.425dup (p.Glu143Ter) | gnomAD v2 |
| 1 | g.21564149del | CA666535 | ALPL | c.581del (p.Pro194LeufsTer4) n.641del c.350del (p.Pro117LeufsTer4) c.416del (p.Pro139LeufsTer4) c.425del (p.Pro142LeufsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564146C>A | CA338878137 | ALPL | c.578C>A (p.Pro193His) n.638C>A c.347C>A (p.Pro116His) c.413C>A (p.Pro138His) c.422C>A (p.Pro141His) | gnomAD v4 |
| 1 | g.21564146C>G | CA338878139 | ALPL | c.578C>G (p.Pro193Arg) n.638C>G c.347C>G (p.Pro116Arg) c.413C>G (p.Pro138Arg) c.422C>G (p.Pro141Arg) | |
| 1 | g.21564146C>T | CA338878141 | ALPL | c.578C>T (p.Pro193Leu) n.638C>T c.347C>T (p.Pro116Leu) c.413C>T (p.Pro138Leu) c.422C>T (p.Pro141Leu) | |
| 1 | g.21564147C>A | CA416528073 | ALPL | c.579C>A (p.Pro193=) n.639C>A c.348C>A (p.Pro116=) c.414C>A (p.Pro138=) c.423C>A (p.Pro141=) | |
| 1 | g.21564147C>G | CA416528077 | ALPL | c.579C>G (p.Pro193=) n.639C>G c.348C>G (p.Pro116=) c.414C>G (p.Pro138=) c.423C>G (p.Pro141=) | |
| 1 | g.21564147C>T | CA416528080 | ALPL | c.579C>T (p.Pro193=) n.639C>T c.348C>T (p.Pro116=) c.414C>T (p.Pro138=) c.423C>T (p.Pro141=) | |
| 1 | g.21564148C>A | CA338878143 | ALPL | c.580C>A (p.Pro194Thr) n.640C>A c.349C>A (p.Pro117Thr) c.415C>A (p.Pro139Thr) c.424C>A (p.Pro142Thr) | |
| 1 | g.21564148C>G | CA338878144 | ALPL | c.580C>G (p.Pro194Ala) n.640C>G c.349C>G (p.Pro117Ala) c.415C>G (p.Pro139Ala) c.424C>G (p.Pro142Ala) | |
| 1 | g.21564148C>T | CA338878146 | ALPL | c.580C>T (p.Pro194Ser) n.640C>T c.349C>T (p.Pro117Ser) c.415C>T (p.Pro139Ser) c.424C>T (p.Pro142Ser) | |
| 1 | g.21564149C>A | CA338878147 | ALPL | c.581C>A (p.Pro194His) n.641C>A c.350C>A (p.Pro117His) c.416C>A (p.Pro139His) c.425C>A (p.Pro142His) | |
| 1 | g.21564149C= | CA1158014481 | ALPL | c.581C= (p.Pro194=) n.641C= c.350C= (p.Pro117=) c.416C= (p.Pro139=) c.425C= (p.Pro142=) | |
| 1 | g.21564149C>G | CA338878148 | ALPL | c.581C>G (p.Pro194Arg) n.641C>G c.350C>G (p.Pro117Arg) c.416C>G (p.Pro139Arg) c.425C>G (p.Pro142Arg) | dbSNP |
| 1 | g.21564149C>T | CA338878149 | ALPL | c.581C>T (p.Pro194Leu) n.641C>T c.350C>T (p.Pro117Leu) c.416C>T (p.Pro139Leu) c.425C>T (p.Pro142Leu) | gnomAD v4 |
| 1 | g.21564149_21564150del | CA2574253027 | ALPL | c.581_582del (p.Pro194ArgfsTer8) n.641_642del c.350_351del (p.Pro117ArgfsTer8) c.416_417del (p.Pro139ArgfsTer8) c.425_426del (p.Pro142ArgfsTer8) | ClinVar |
| 1 | g.21564150T>A | CA416528096 | ALPL | c.582T>A (p.Pro194=) n.642T>A c.351T>A (p.Pro117=) c.417T>A (p.Pro139=) c.426T>A (p.Pro142=) | |
| 1 | g.21564150T>C | CA666536 | ALPL | c.582T>C (p.Pro194=) n.642T>C c.351T>C (p.Pro117=) c.417T>C (p.Pro139=) c.426T>C (p.Pro142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564150T>G | CA416528093 | ALPL | c.582T>G (p.Pro194=) n.642T>G c.351T>G (p.Pro117=) c.417T>G (p.Pro139=) c.426T>G (p.Pro142=) | |
| 1 | g.21564150T= | CA1141245013 | ALPL | c.582T= (p.Pro194=) n.642T= c.351T= (p.Pro117=) c.417T= (p.Pro139=) c.426T= (p.Pro142=) | |
| 1 | g.21564151G>A | CA338878150 | ALPL | c.583G>A (p.Glu195Lys) n.643G>A c.352G>A (p.Glu118Lys) c.418G>A (p.Glu140Lys) c.427G>A (p.Glu143Lys) | |
| 1 | g.21564151G>C | CA338878152 | ALPL | c.583G>C (p.Glu195Gln) n.643G>C c.352G>C (p.Glu118Gln) c.418G>C (p.Glu140Gln) c.427G>C (p.Glu143Gln) | |
| 1 | g.21564151G>T | CA338878151 | ALPL | c.583G>T (p.Glu195Ter) n.643G>T c.352G>T (p.Glu118Ter) c.418G>T (p.Glu140Ter) c.427G>T (p.Glu143Ter) | |
| 1 | g.21564152A= | CA1158014482 | ALPL | c.584A= (p.Glu195=) n.644A= c.353A= (p.Glu118=) c.419A= (p.Glu140=) c.428A= (p.Glu143=) | |
| 1 | g.21564152A>C | CA338878156 | ALPL | c.584A>C (p.Glu195Ala) n.644A>C c.353A>C (p.Glu118Ala) c.419A>C (p.Glu140Ala) c.428A>C (p.Glu143Ala) | dbSNP |
| 1 | g.21564152A>G | CA338878158 | ALPL | c.584A>G (p.Glu195Gly) n.644A>G c.353A>G (p.Glu118Gly) c.419A>G (p.Glu140Gly) c.428A>G (p.Glu143Gly) | |
| 1 | g.21564152A>T | CA338878160 | ALPL | c.584A>T (p.Glu195Val) n.644A>T c.353A>T (p.Glu118Val) c.419A>T (p.Glu140Val) c.428A>T (p.Glu143Val) | |
| 1 | g.21564153G>A | CA416528119 | ALPL | c.585G>A (p.Glu195=) n.645G>A c.354G>A (p.Glu118=) c.420G>A (p.Glu140=) c.429G>A (p.Glu143=) | gnomAD v4 |
| 1 | g.21564153G>C | CA338878162 | ALPL | c.585G>C (p.Glu195Asp) n.645G>C c.354G>C (p.Glu118Asp) c.420G>C (p.Glu140Asp) c.429G>C (p.Glu143Asp) | |
| 1 | g.21564153G>T | CA338878163 | ALPL | c.585G>T (p.Glu195Asp) n.645G>T c.354G>T (p.Glu118Asp) c.420G>T (p.Glu140Asp) c.429G>T (p.Glu143Asp) | |
| 1 | g.21564154G>A | CA16603568 | ALPL | c.586G>A (p.Ala196Thr) n.646G>A c.355G>A (p.Ala119Thr) c.421G>A (p.Ala141Thr) c.430G>A (p.Ala144Thr) | ClinVar dbSNP |
| 1 | g.21564154G>C | CA338878168 | ALPL | c.586G>C (p.Ala196Pro) n.646G>C c.355G>C (p.Ala119Pro) c.421G>C (p.Ala141Pro) c.430G>C (p.Ala144Pro) | |
| 1 | g.21564154G= | CA1158014483 | ALPL | c.586G= (p.Ala196=) n.646G= c.355G= (p.Ala119=) c.421G= (p.Ala141=) c.430G= (p.Ala144=) | |
| 1 | g.21564154G>T | CA338878172 | ALPL | c.586G>T (p.Ala196Ser) n.646G>T c.355G>T (p.Ala119Ser) c.421G>T (p.Ala141Ser) c.430G>T (p.Ala144Ser) | |
| 1 | g.21564155C>A | CA338878174 | ALPL | c.587C>A (p.Ala196Asp) n.647C>A c.356C>A (p.Ala119Asp) c.422C>A (p.Ala141Asp) c.431C>A (p.Ala144Asp) | |
| 1 | g.21564155C= | CA1158014484 | ALPL | c.587C= (p.Ala196=) n.647C= c.356C= (p.Ala119=) c.422C= (p.Ala141=) c.431C= (p.Ala144=) |