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.114678001_114678002del | CA525418509 | AMPD1 | c.1121_1122del (p.Lys374IlefsTer2) c.1133_1134del (p.Lys378IlefsTer2) c.916_917del (n.916_917del) n.798_799del c.1220_1221del (p.Lys407IlefsTer2) c.1232_1233del (p.Lys411IlefsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114678002T>A | CA341749144 | AMPD1 | c.1120A>T (p.Lys374Ter) c.1132A>T (p.Lys378Ter) c.915A>T (n.915A>T) n.797A>T c.1219A>T (p.Lys407Ter) c.1231A>T (p.Lys411Ter) | |
| 1 | g.114678002T>C | CA341749145 | AMPD1 | c.1120A>G (p.Lys374Glu) c.1132A>G (p.Lys378Glu) c.915A>G (n.915A>G) n.797A>G c.1219A>G (p.Lys407Glu) c.1231A>G (p.Lys411Glu) | |
| 1 | g.114678002T>G | CA29055391 | AMPD1 | c.1120A>C (p.Lys374Gln) c.1132A>C (p.Lys378Gln) c.915A>C (n.915A>C) n.797A>C c.1219A>C (p.Lys407Gln) c.1231A>C (p.Lys411Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114678002T= | CA1147283936 | AMPD1 | c.1120A= (p.Lys374=) c.1132A= (p.Lys378=) c.915A= (n.915A=) n.797A= c.1219A= (p.Lys407=) c.1231A= (p.Lys411=) | |
| 1 | g.114678003G>A | CA419883123 | AMPD1 | c.1119C>T (p.Asp373=) c.1131C>T (p.Asp377=) c.914C>T (n.914C>T) n.796C>T c.1218C>T (p.Asp406=) c.1230C>T (p.Asp410=) | gnomAD v4 |
| 1 | g.114678003G>C | CA341749146 | AMPD1 | c.1119C>G (p.Asp373Glu) c.1131C>G (p.Asp377Glu) c.914C>G (n.914C>G) n.796C>G c.1218C>G (p.Asp406Glu) c.1230C>G (p.Asp410Glu) | |
| 1 | g.114678003G>T | CA341749147 | AMPD1 | c.1119C>A (p.Asp373Glu) c.1131C>A (p.Asp377Glu) c.914C>A (n.914C>A) n.796C>A c.1218C>A (p.Asp406Glu) c.1230C>A (p.Asp410Glu) | |
| 1 | g.114678004T>A | CA341749148 | AMPD1 | c.1118A>T (p.Asp373Val) c.1130A>T (p.Asp377Val) c.913A>T (n.913A>T) n.795A>T c.1217A>T (p.Asp406Val) c.1229A>T (p.Asp410Val) | |
| 1 | g.114678004T>C | CA1020208 | AMPD1 | c.1118A>G (p.Asp373Gly) c.1130A>G (p.Asp377Gly) c.913A>G (n.913A>G) n.795A>G c.1217A>G (p.Asp406Gly) c.1229A>G (p.Asp410Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.114678004T>G | CA341749149 | AMPD1 | c.1118A>C (p.Asp373Ala) c.1130A>C (p.Asp377Ala) c.913A>C (n.913A>C) n.795A>C c.1217A>C (p.Asp406Ala) c.1229A>C (p.Asp410Ala) | |
| 1 | g.114678004T= | CA1149060783 | AMPD1 | c.1118A= (p.Asp373=) c.1130A= (p.Asp377=) c.913A= (n.913A=) n.795A= c.1217A= (p.Asp406=) c.1229A= (p.Asp410=) | |
| 1 | g.114678005del | CA2696723539 | AMPD1 | c.1117del (p.Asp373ThrfsTer6) c.1129del (p.Asp377ThrfsTer6) c.912del (n.912del) n.794del c.1216del (p.Asp406ThrfsTer6) c.1228del (p.Asp410ThrfsTer6) | dbSNP |
| 1 | g.114678005C>A | CA341749150 | AMPD1 | c.1117G>T (p.Asp373Tyr) c.1129G>T (p.Asp377Tyr) c.912G>T (n.912G>T) n.794G>T c.1216G>T (p.Asp406Tyr) c.1228G>T (p.Asp410Tyr) | |
| 1 | g.114678005C>G | CA341749151 | AMPD1 | c.1117G>C (p.Asp373His) c.1129G>C (p.Asp377His) c.912G>C (n.912G>C) n.794G>C c.1216G>C (p.Asp406His) c.1228G>C (p.Asp410His) | |
| 1 | g.114678005C>T | CA341749152 | AMPD1 | c.1117G>A (p.Asp373Asn) c.1129G>A (p.Asp377Asn) c.912G>A (n.912G>A) n.794G>A c.1216G>A (p.Asp406Asn) c.1228G>A (p.Asp410Asn) | |
| 1 | g.114678006A>C | CA341749153 | AMPD1 | c.1116T>G (p.Asn372Lys) c.1128T>G (p.Asn376Lys) c.911T>G (n.911T>G) n.793T>G c.1215T>G (p.Asn405Lys) c.1227T>G (p.Asn409Lys) | |
| 1 | g.114678006A>G | CA419883124 | AMPD1 | c.1116T>C (p.Asn372=) c.1128T>C (p.Asn376=) c.911T>C (n.911T>C) n.793T>C c.1215T>C (p.Asn405=) c.1227T>C (p.Asn409=) | COSMIC COSMIC |
| 1 | g.114678006A>T | CA341749154 | AMPD1 | c.1116T>A (p.Asn372Lys) c.1128T>A (p.Asn376Lys) c.911T>A (n.911T>A) n.793T>A c.1215T>A (p.Asn405Lys) c.1227T>A (p.Asn409Lys) | |
| 1 | g.114678007T>A | CA341749156 | AMPD1 | c.1115A>T (p.Asn372Ile) c.1127A>T (p.Asn376Ile) c.910A>T (n.910A>T) n.792A>T c.1214A>T (p.Asn405Ile) c.1226A>T (p.Asn409Ile) | |
| 1 | g.114678007T>C | CA341749157 | AMPD1 | c.1115A>G (p.Asn372Ser) c.1127A>G (p.Asn376Ser) c.910A>G (n.910A>G) n.792A>G c.1214A>G (p.Asn405Ser) c.1226A>G (p.Asn409Ser) | |
| 1 | g.114678007T>G | CA341749155 | AMPD1 | c.1115A>C (p.Asn372Thr) c.1127A>C (p.Asn376Thr) c.910A>C (n.910A>C) n.792A>C c.1214A>C (p.Asn405Thr) c.1226A>C (p.Asn409Thr) | |
| 1 | g.114678008T>A | CA341749158 | AMPD1 | c.1114A>T (p.Asn372Tyr) c.1126A>T (p.Asn376Tyr) c.909A>T (n.909A>T) n.791A>T c.1213A>T (p.Asn405Tyr) c.1225A>T (p.Asn409Tyr) | |
| 1 | g.114678008T>C | CA341749159 | AMPD1 | c.1114A>G (p.Asn372Asp) c.1126A>G (p.Asn376Asp) c.909A>G (n.909A>G) n.791A>G c.1213A>G (p.Asn405Asp) c.1225A>G (p.Asn409Asp) | dbSNP gnomAD v4 |
| 1 | g.114678008T>G | CA341749160 | AMPD1 | c.1114A>C (p.Asn372His) c.1126A>C (p.Asn376His) c.909A>C (n.909A>C) n.791A>C c.1213A>C (p.Asn405His) c.1225A>C (p.Asn409His) | |
| 1 | g.114678008T= | CA1190276625 | AMPD1 | c.1114A= (p.Asn372=) c.1126A= (p.Asn376=) c.909A= (n.909A=) n.791A= c.1213A= (p.Asn405=) c.1225A= (p.Asn409=) | |
| 1 | g.114678009G>A | CA419883125 | AMPD1 | c.1113C>T (p.Phe371=) c.1125C>T (p.Phe375=) c.908C>T (n.908C>T) n.790C>T c.1212C>T (p.Phe404=) c.1224C>T (p.Phe408=) | |
| 1 | g.114678009G>C | CA341749161 | AMPD1 | c.1113C>G (p.Phe371Leu) c.1125C>G (p.Phe375Leu) c.908C>G (n.908C>G) n.790C>G c.1212C>G (p.Phe404Leu) c.1224C>G (p.Phe408Leu) | ClinVar gnomAD v4 |
| 1 | g.114678009G>T | CA341749162 | AMPD1 | c.1113C>A (p.Phe371Leu) c.1125C>A (p.Phe375Leu) c.908C>A (n.908C>A) n.790C>A c.1212C>A (p.Phe404Leu) c.1224C>A (p.Phe408Leu) | |
| 1 | g.114678010A>C | CA341749165 | AMPD1 | c.1112T>G (p.Phe371Cys) c.1124T>G (p.Phe375Cys) c.907T>G (n.907T>G) n.789T>G c.1211T>G (p.Phe404Cys) c.1223T>G (p.Phe408Cys) | |
| 1 | g.114678010A>G | CA341749164 | AMPD1 | c.1112T>C (p.Phe371Ser) c.1124T>C (p.Phe375Ser) c.907T>C (n.907T>C) n.789T>C c.1211T>C (p.Phe404Ser) c.1223T>C (p.Phe408Ser) | |
| 1 | g.114678010A>T | CA341749163 | AMPD1 | c.1112T>A (p.Phe371Tyr) c.1124T>A (p.Phe375Tyr) c.907T>A (n.907T>A) n.789T>A c.1211T>A (p.Phe404Tyr) c.1223T>A (p.Phe408Tyr) | |
| 1 | g.114678011A= | CA1190276626 | AMPD1 | c.1111T= (p.Phe371=) c.1123T= (p.Phe375=) c.906T= (n.906T=) n.788T= c.1210T= (p.Phe404=) c.1222T= (p.Phe408=) | |
| 1 | g.114678011A>C | CA341749166 | AMPD1 | c.1111T>G (p.Phe371Val) c.1123T>G (p.Phe375Val) c.906T>G (n.906T>G) n.788T>G c.1210T>G (p.Phe404Val) c.1222T>G (p.Phe408Val) | |
| 1 | g.114678011A>G | CA341749167 | AMPD1 | c.1111T>C (p.Phe371Leu) c.1123T>C (p.Phe375Leu) c.906T>C (n.906T>C) n.788T>C c.1210T>C (p.Phe404Leu) c.1222T>C (p.Phe408Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114678011A>T | CA341749168 | AMPD1 | c.1111T>A (p.Phe371Ile) c.1123T>A (p.Phe375Ile) c.906T>A (n.906T>A) n.788T>A c.1210T>A (p.Phe404Ile) c.1222T>A (p.Phe408Ile) | |
| 1 | g.114678012C>A | CA341749169 | AMPD1 | c.1110G>T (p.Lys370Asn) c.1122G>T (p.Lys374Asn) c.905G>T (n.905G>T) n.787G>T c.1209G>T (p.Lys403Asn) c.1221G>T (p.Lys407Asn) | |
| 1 | g.114678012C= | CA1141652543 | AMPD1 | c.1110G= (p.Lys370=) c.1122G= (p.Lys374=) c.905G= (n.905G=) n.787G= c.1209G= (p.Lys403=) c.1221G= (p.Lys407=) | |
| 1 | g.114678012C>G | CA341749170 | AMPD1 | c.1110G>C (p.Lys370Asn) c.1122G>C (p.Lys374Asn) c.905G>C (n.905G>C) n.787G>C c.1209G>C (p.Lys403Asn) c.1221G>C (p.Lys407Asn) | |
| 1 | g.114678012C>T | CA203695 | AMPD1 | c.1110G>A (p.Lys370=) c.1122G>A (p.Lys374=) c.905G>A (n.905G>A) n.787G>A c.1209G>A (p.Lys403=) c.1221G>A (p.Lys407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114678013T>A | CA341749171 | AMPD1 | c.1109A>T (p.Lys370Met) c.1121A>T (p.Lys374Met) c.904A>T (n.904A>T) n.786A>T c.1208A>T (p.Lys403Met) c.1220A>T (p.Lys407Met) | gnomAD v4 |
| 1 | g.114678013T>C | CA341749173 | AMPD1 | c.1109A>G (p.Lys370Arg) c.1121A>G (p.Lys374Arg) c.904A>G (n.904A>G) n.786A>G c.1208A>G (p.Lys403Arg) c.1220A>G (p.Lys407Arg) | |
| 1 | g.114678013T>G | CA341749172 | AMPD1 | c.1109A>C (p.Lys370Thr) c.1121A>C (p.Lys374Thr) c.904A>C (n.904A>C) n.786A>C c.1208A>C (p.Lys403Thr) c.1220A>C (p.Lys407Thr) | COSMIC COSMIC |
| 1 | g.114678014T>A | CA341749174 | AMPD1 | c.1108A>T (p.Lys370Ter) c.1120A>T (p.Lys374Ter) c.903A>T (n.903A>T) n.785A>T c.1207A>T (p.Lys403Ter) c.1219A>T (p.Lys407Ter) | |
| 1 | g.114678014T>C | CA341749175 | AMPD1 | c.1108A>G (p.Lys370Glu) c.1120A>G (p.Lys374Glu) c.903A>G (n.903A>G) n.785A>G c.1207A>G (p.Lys403Glu) c.1219A>G (p.Lys407Glu) | |
| 1 | g.114678014T>G | CA341749176 | AMPD1 | c.1108A>C (p.Lys370Gln) c.1120A>C (p.Lys374Gln) c.903A>C (n.903A>C) n.785A>C c.1207A>C (p.Lys403Gln) c.1219A>C (p.Lys407Gln) | |
| 1 | g.114678015A>C | CA341749177 | AMPD1 | c.1107T>G (p.Asp369Glu) c.1119T>G (p.Asp373Glu) c.902T>G (n.902T>G) n.784T>G c.1206T>G (p.Asp402Glu) c.1218T>G (p.Asp406Glu) | |
| 1 | g.114678015A>G | CA419883126 | AMPD1 | c.1107T>C (p.Asp369=) c.1119T>C (p.Asp373=) c.902T>C (n.902T>C) n.784T>C c.1206T>C (p.Asp402=) c.1218T>C (p.Asp406=) | gnomAD v4 |
| 1 | g.114678015A>T | CA341749178 | AMPD1 | c.1107T>A (p.Asp369Glu) c.1119T>A (p.Asp373Glu) c.902T>A (n.902T>A) n.784T>A c.1206T>A (p.Asp402Glu) c.1218T>A (p.Asp406Glu) | |
| 1 | g.114678016T>A | CA341749179 | AMPD1 | c.1106A>T (p.Asp369Val) c.1118A>T (p.Asp373Val) c.901A>T (n.901A>T) n.783A>T c.1205A>T (p.Asp402Val) c.1217A>T (p.Asp406Val) |