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 |
|---|---|---|---|---|---|
| 12 | g.101768116T>A | CA481320523 | GNPTAB | c.1329A>T (p.Pro443=) c.1248A>T (p.Pro416=) c.1113A>T (p.Pro371=) c.102A>T (p.Pro34=) | |
| 12 | g.101768116T>C | CA242461281 | GNPTAB | c.1329A>G (p.Pro443=) c.1248A>G (p.Pro416=) c.1113A>G (p.Pro371=) c.102A>G (p.Pro34=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101768116T>G | CA481320524 | GNPTAB | c.1329A>C (p.Pro443=) c.1248A>C (p.Pro416=) c.1113A>C (p.Pro371=) c.102A>C (p.Pro34=) | |
| 12 | g.101768116T= | CA2058956989 | GNPTAB | c.1329A= (p.Pro443=) c.1248A= (p.Pro416=) c.1113A= (p.Pro371=) c.102A= (p.Pro34=) | |
| 12 | g.101768117G>A | CA386301991 | GNPTAB | c.1328C>T (p.Pro443Leu) c.1247C>T (p.Pro416Leu) c.1112C>T (p.Pro371Leu) c.101C>T (p.Pro34Leu) | gnomAD v4 |
| 12 | g.101768117G>C | CA386301992 | GNPTAB | c.1328C>G (p.Pro443Arg) c.1247C>G (p.Pro416Arg) c.1112C>G (p.Pro371Arg) c.101C>G (p.Pro34Arg) | |
| 12 | g.101768117G>T | CA386301993 | GNPTAB | c.1328C>A (p.Pro443Gln) c.1247C>A (p.Pro416Gln) c.1112C>A (p.Pro371Gln) c.101C>A (p.Pro34Gln) | |
| 12 | g.101768118G>A | CA386301994 | GNPTAB | c.1327C>T (p.Pro443Ser) c.1246C>T (p.Pro416Ser) c.1111C>T (p.Pro371Ser) c.100C>T (p.Pro34Ser) | |
| 12 | g.101768118G>C | CA386301995 | GNPTAB | c.1327C>G (p.Pro443Ala) c.1246C>G (p.Pro416Ala) c.1111C>G (p.Pro371Ala) c.100C>G (p.Pro34Ala) | |
| 12 | g.101768118G>T | CA386301996 | GNPTAB | c.1327C>A (p.Pro443Thr) c.1246C>A (p.Pro416Thr) c.1111C>A (p.Pro371Thr) c.100C>A (p.Pro34Thr) | |
| 12 | g.101768119G>A | CA481320530 | GNPTAB | c.1326C>T (p.Cys442=) c.1245C>T (p.Cys415=) c.1110C>T (p.Cys370=) c.99C>T (p.Cys33=) | |
| 12 | g.101768119G>C | CA386301997 | GNPTAB | c.1326C>G (p.Cys442Trp) c.1245C>G (p.Cys415Trp) c.1110C>G (p.Cys370Trp) c.99C>G (p.Cys33Trp) | |
| 12 | g.101768119G>T | CA386301998 | GNPTAB | c.1326C>A (p.Cys442Ter) c.1245C>A (p.Cys415Ter) c.1110C>A (p.Cys370Ter) c.99C>A (p.Cys33Ter) | |
| 12 | g.101768120C>A | CA386301999 | GNPTAB | c.1325G>T (p.Cys442Phe) c.1244G>T (p.Cys415Phe) c.1109G>T (p.Cys370Phe) c.98G>T (p.Cys33Phe) | |
| 12 | g.101768120C= | CA2058956990 | GNPTAB | c.1325G= (p.Cys442=) c.1244G= (p.Cys415=) c.1109G= (p.Cys370=) c.98G= (p.Cys33=) | |
| 12 | g.101768120C>G | CA386302000 | GNPTAB | c.1325G>C (p.Cys442Ser) c.1244G>C (p.Cys415Ser) c.1109G>C (p.Cys370Ser) c.98G>C (p.Cys33Ser) | |
| 12 | g.101768120C>T | CA343343 | GNPTAB | c.1325G>A (p.Cys442Tyr) c.1244G>A (p.Cys415Tyr) c.1109G>A (p.Cys370Tyr) c.98G>A (p.Cys33Tyr) | ClinVar dbSNP |
| 12 | g.101768121A>C | CA386302001 | GNPTAB | c.1324T>G (p.Cys442Gly) c.1243T>G (p.Cys415Gly) c.1108T>G (p.Cys370Gly) c.97T>G (p.Cys33Gly) | |
| 12 | g.101768121A>G | CA386302002 | GNPTAB | c.1324T>C (p.Cys442Arg) c.1243T>C (p.Cys415Arg) c.1108T>C (p.Cys370Arg) c.97T>C (p.Cys33Arg) | |
| 12 | g.101768121A>T | CA386302003 | GNPTAB | c.1324T>A (p.Cys442Ser) c.1243T>A (p.Cys415Ser) c.1108T>A (p.Cys370Ser) c.97T>A (p.Cys33Ser) | |
| 12 | g.101768122G>A | CA481320534 | GNPTAB | c.1323C>T (p.Gly441=) c.1242C>T (p.Gly414=) c.1107C>T (p.Gly369=) c.96C>T (p.Gly32=) | |
| 12 | g.101768122G>C | CA481320535 | GNPTAB | c.1323C>G (p.Gly441=) c.1242C>G (p.Gly414=) c.1107C>G (p.Gly369=) c.96C>G (p.Gly32=) | |
| 12 | g.101768122G>T | CA481320536 | GNPTAB | c.1323C>A (p.Gly441=) c.1242C>A (p.Gly414=) c.1107C>A (p.Gly369=) c.96C>A (p.Gly32=) | |
| 12 | g.101768123C>A | CA386302004 | GNPTAB | c.1322G>T (p.Gly441Val) c.1241G>T (p.Gly414Val) c.1106G>T (p.Gly369Val) c.95G>T (p.Gly32Val) | gnomAD v4 |
| 12 | g.101768123C>G | CA386302005 | GNPTAB | c.1322G>C (p.Gly441Ala) c.1241G>C (p.Gly414Ala) c.1106G>C (p.Gly369Ala) c.95G>C (p.Gly32Ala) | |
| 12 | g.101768123C>T | CA386302006 | GNPTAB | c.1322G>A (p.Gly441Asp) c.1241G>A (p.Gly414Asp) c.1106G>A (p.Gly369Asp) c.95G>A (p.Gly32Asp) | |
| 12 | g.101768124C>A | CA386302007 | GNPTAB | c.1321G>T (p.Gly441Cys) c.1240G>T (p.Gly414Cys) c.1105G>T (p.Gly369Cys) c.94G>T (p.Gly32Cys) | |
| 12 | g.101768124C>G | CA386302008 | GNPTAB | c.1321G>C (p.Gly441Arg) c.1240G>C (p.Gly414Arg) c.1105G>C (p.Gly369Arg) c.94G>C (p.Gly32Arg) | |
| 12 | g.101768124C>T | CA386302009 | GNPTAB | c.1321G>A (p.Gly441Ser) c.1240G>A (p.Gly414Ser) c.1105G>A (p.Gly369Ser) c.94G>A (p.Gly32Ser) | |
| 12 | g.101768125C>A | CA386302011 | GNPTAB | c.1320G>T (p.Glu440Asp) c.1239G>T (p.Glu413Asp) c.1104G>T (p.Glu368Asp) c.93G>T (p.Glu31Asp) | |
| 12 | g.101768125C>G | CA386302010 | GNPTAB | c.1320G>C (p.Glu440Asp) c.1239G>C (p.Glu413Asp) c.1104G>C (p.Glu368Asp) c.93G>C (p.Glu31Asp) | |
| 12 | g.101768125C>T | CA481320545 | GNPTAB | c.1320G>A (p.Glu440=) c.1239G>A (p.Glu413=) c.1104G>A (p.Glu368=) c.93G>A (p.Glu31=) | |
| 12 | g.101768126T>A | CA386302012 | GNPTAB | c.1319A>T (p.Glu440Val) c.1238A>T (p.Glu413Val) c.1103A>T (p.Glu368Val) c.92A>T (p.Glu31Val) | |
| 12 | g.101768126T>C | CA386302013 | GNPTAB | c.1319A>G (p.Glu440Gly) c.1238A>G (p.Glu413Gly) c.1103A>G (p.Glu368Gly) c.92A>G (p.Glu31Gly) | |
| 12 | g.101768126T>G | CA386302015 | GNPTAB | c.1319A>C (p.Glu440Ala) c.1238A>C (p.Glu413Ala) c.1103A>C (p.Glu368Ala) c.92A>C (p.Glu31Ala) | |
| 12 | g.101768127C>A | CA386302016 | GNPTAB | c.1318G>T (p.Glu440Ter) c.1237G>T (p.Glu413Ter) c.1102G>T (p.Glu368Ter) c.91G>T (p.Glu31Ter) | |
| 12 | g.101768127C= | CA2058956991 | GNPTAB | c.1318G= (p.Glu440=) c.1237G= (p.Glu413=) c.1102G= (p.Glu368=) c.91G= (p.Glu31=) | |
| 12 | g.101768127C>G | CA386302017 | GNPTAB | c.1318G>C (p.Glu440Gln) c.1237G>C (p.Glu413Gln) c.1102G>C (p.Glu368Gln) c.91G>C (p.Glu31Gln) | |
| 12 | g.101768127C>T | CA386302018 | GNPTAB | c.1318G>A (p.Glu440Lys) c.1237G>A (p.Glu413Lys) c.1102G>A (p.Glu368Lys) c.91G>A (p.Glu31Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.101768128G>A | CA6746652 | GNPTAB | c.1317C>T (p.Ala439=) c.1236C>T (p.Ala412=) c.1101C>T (p.Ala367=) c.90C>T (p.Ala30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768128G>C | CA481320550 | GNPTAB | c.1317C>G (p.Ala439=) c.1236C>G (p.Ala412=) c.1101C>G (p.Ala367=) c.90C>G (p.Ala30=) | |
| 12 | g.101768128G= | CA2058956992 | GNPTAB | c.1317C= (p.Ala439=) c.1236C= (p.Ala412=) c.1101C= (p.Ala367=) c.90C= (p.Ala30=) | |
| 12 | g.101768128G>T | CA481320548 | GNPTAB | c.1317C>A (p.Ala439=) c.1236C>A (p.Ala412=) c.1101C>A (p.Ala367=) c.90C>A (p.Ala30=) | |
| 12 | g.101768129G>A | CA386302019 | GNPTAB | c.1316C>T (p.Ala439Val) c.1235C>T (p.Ala412Val) c.1100C>T (p.Ala367Val) c.89C>T (p.Ala30Val) | |
| 12 | g.101768129G>C | CA386302020 | GNPTAB | c.1316C>G (p.Ala439Gly) c.1235C>G (p.Ala412Gly) c.1100C>G (p.Ala367Gly) c.89C>G (p.Ala30Gly) | |
| 12 | g.101768129G>T | CA386302021 | GNPTAB | c.1316C>A (p.Ala439Asp) c.1235C>A (p.Ala412Asp) c.1100C>A (p.Ala367Asp) c.89C>A (p.Ala30Asp) | |
| 12 | g.101768130C>A | CA386302023 | GNPTAB | c.1315G>T (p.Ala439Ser) c.1234G>T (p.Ala412Ser) c.1099G>T (p.Ala367Ser) c.88G>T (p.Ala30Ser) | |
| 12 | g.101768130C>G | CA386302024 | GNPTAB | c.1315G>C (p.Ala439Pro) c.1234G>C (p.Ala412Pro) c.1099G>C (p.Ala367Pro) c.88G>C (p.Ala30Pro) | |
| 12 | g.101768130C>T | CA386302025 | GNPTAB | c.1315G>A (p.Ala439Thr) c.1234G>A (p.Ala412Thr) c.1099G>A (p.Ala367Thr) c.88G>A (p.Ala30Thr) | gnomAD v4 |
| 12 | g.101768132_101768133del | CA2620450466 | GNPTAB | c.1314_1315del (p.Ala439ArgfsTer9) c.1233_1234del (p.Ala412ArgfsTer9) c.1098_1099del (p.Ala367ArgfsTer9) c.87_88del (p.Ala30ArgfsTer9) | gnomAD v4 |