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 |
|---|---|---|---|---|---|
| 10 | g.129766806T>A | CA378712958 | MGMT | c.526T>A (p.Cys176Ser) c.433T>A (p.Cys145Ser) c.256T>A (p.Cys86Ser) c.442T>A (p.Cys148Ser) | |
| 10 | g.129766806T>C | CA378712960 | MGMT | c.526T>C (p.Cys176Arg) c.433T>C (p.Cys145Arg) c.256T>C (p.Cys86Arg) c.442T>C (p.Cys148Arg) | |
| 10 | g.129766806T>G | CA378712959 | MGMT | c.526T>G (p.Cys176Gly) c.433T>G (p.Cys145Gly) c.256T>G (p.Cys86Gly) c.442T>G (p.Cys148Gly) | |
| 10 | g.129766807G>A | CA378712961 | MGMT | c.527G>A (p.Cys176Tyr) c.434G>A (p.Cys145Tyr) c.257G>A (p.Cys86Tyr) c.443G>A (p.Cys148Tyr) | |
| 10 | g.129766807G>C | CA378712962 | MGMT | c.527G>C (p.Cys176Ser) c.434G>C (p.Cys145Ser) c.257G>C (p.Cys86Ser) c.443G>C (p.Cys148Ser) | |
| 10 | g.129766807G>T | CA378712963 | MGMT | c.527G>T (p.Cys176Phe) c.434G>T (p.Cys145Phe) c.257G>T (p.Cys86Phe) c.443G>T (p.Cys148Phe) | |
| 10 | g.129766808C>A | CA378712964 | MGMT | c.528C>A (p.Cys176Ter) c.435C>A (p.Cys145Ter) c.258C>A (p.Cys86Ter) c.444C>A (p.Cys148Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.129766808C= | CA1944921598 | MGMT | c.528C= (p.Cys176=) c.435C= (p.Cys145=) c.258C= (p.Cys86=) c.444C= (p.Cys148=) | |
| 10 | g.129766808C>G | CA378712965 | MGMT | c.528C>G (p.Cys176Trp) c.435C>G (p.Cys145Trp) c.258C>G (p.Cys86Trp) c.444C>G (p.Cys148Trp) | |
| 10 | g.129766808C>T | CA471816457 | MGMT | c.528C>T (p.Cys176=) c.435C>T (p.Cys145=) c.258C>T (p.Cys86=) c.444C>T (p.Cys148=) | |
| 10 | g.129766809C>A | CA378712966 | MGMT | c.529C>A (p.His177Asn) c.436C>A (p.His146Asn) c.259C>A (p.His87Asn) c.445C>A (p.His149Asn) | |
| 10 | g.129766809C= | CA1944921599 | MGMT | c.529C= (p.His177=) c.436C= (p.His146=) c.259C= (p.His87=) c.445C= (p.His149=) | |
| 10 | g.129766809C>G | CA378712967 | MGMT | c.529C>G (p.His177Asp) c.436C>G (p.His146Asp) c.259C>G (p.His87Asp) c.445C>G (p.His149Asp) | COSMIC |
| 10 | g.129766809C>T | CA378712968 | MGMT | c.529C>T (p.His177Tyr) c.436C>T (p.His146Tyr) c.259C>T (p.His87Tyr) c.445C>T (p.His149Tyr) | dbSNP gnomAD v4 |
| 10 | g.129766810A>C | CA378712969 | MGMT | c.530A>C (p.His177Pro) c.437A>C (p.His146Pro) c.260A>C (p.His87Pro) c.446A>C (p.His149Pro) | |
| 10 | g.129766810A>G | CA378712971 | MGMT | c.530A>G (p.His177Arg) c.437A>G (p.His146Arg) c.260A>G (p.His87Arg) c.446A>G (p.His149Arg) | |
| 10 | g.129766810A>T | CA378712970 | MGMT | c.530A>T (p.His177Leu) c.437A>T (p.His146Leu) c.260A>T (p.His87Leu) c.446A>T (p.His149Leu) | |
| 10 | g.129766811C>A | CA378712972 | MGMT | c.531C>A (p.His177Gln) c.438C>A (p.His146Gln) c.261C>A (p.His87Gln) c.447C>A (p.His149Gln) | |
| 10 | g.129766811C>G | CA378712973 | MGMT | c.531C>G (p.His177Gln) c.438C>G (p.His146Gln) c.261C>G (p.His87Gln) c.447C>G (p.His149Gln) | |
| 10 | g.129766811C>T | CA471816458 | MGMT | c.531C>T (p.His177=) c.438C>T (p.His146=) c.261C>T (p.His87=) c.447C>T (p.His149=) | |
| 10 | g.129766812A>C | CA471816459 | MGMT | c.532A>C (p.Arg178=) c.439A>C (p.Arg147=) c.262A>C (p.Arg88=) c.448A>C (p.Arg150=) | |
| 10 | g.129766812A>G | CA378712974 | MGMT | c.532A>G (p.Arg178Gly) c.439A>G (p.Arg147Gly) c.262A>G (p.Arg88Gly) c.448A>G (p.Arg150Gly) | gnomAD v4 |
| 10 | g.129766812A>T | CA378712975 | MGMT | c.532A>T (p.Arg178Ter) c.439A>T (p.Arg147Ter) c.262A>T (p.Arg88Ter) c.448A>T (p.Arg150Ter) | |
| 10 | g.129766813G>A | CA378712976 | MGMT | c.533G>A (p.Arg178Lys) c.440G>A (p.Arg147Lys) c.263G>A (p.Arg88Lys) c.449G>A (p.Arg150Lys) | |
| 10 | g.129766813G>C | CA378712978 | MGMT | c.533G>C (p.Arg178Thr) c.440G>C (p.Arg147Thr) c.263G>C (p.Arg88Thr) c.449G>C (p.Arg150Thr) | gnomAD v4 |
| 10 | g.129766813G>T | CA378712977 | MGMT | c.533G>T (p.Arg178Ile) c.440G>T (p.Arg147Ile) c.263G>T (p.Arg88Ile) c.449G>T (p.Arg150Ile) | gnomAD v4 |
| 10 | g.129766814A>C | CA378712979 | MGMT | c.534A>C (p.Arg178Ser) c.441A>C (p.Arg147Ser) c.264A>C (p.Arg88Ser) c.450A>C (p.Arg150Ser) | |
| 10 | g.129766814A>G | CA471816461 | MGMT | c.534A>G (p.Arg178=) c.441A>G (p.Arg147=) c.264A>G (p.Arg88=) c.450A>G (p.Arg150=) | |
| 10 | g.129766814A>T | CA378712980 | MGMT | c.534A>T (p.Arg178Ser) c.441A>T (p.Arg147Ser) c.264A>T (p.Arg88Ser) c.450A>T (p.Arg150Ser) | |
| 10 | g.129766815G>A | CA5748127 | MGMT | c.535G>A (p.Val179Met) c.442G>A (p.Val148Met) c.265G>A (p.Val89Met) c.451G>A (p.Val151Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.129766815G>C | CA378712981 | MGMT | c.535G>C (p.Val179Leu) c.442G>C (p.Val148Leu) c.265G>C (p.Val89Leu) c.451G>C (p.Val151Leu) | |
| 10 | g.129766815G= | CA1944921600 | MGMT | c.535G= (p.Val179=) c.442G= (p.Val148=) c.265G= (p.Val89=) c.451G= (p.Val151=) | |
| 10 | g.129766815G>T | CA378712982 | MGMT | c.535G>T (p.Val179Leu) c.442G>T (p.Val148Leu) c.265G>T (p.Val89Leu) c.451G>T (p.Val151Leu) | gnomAD v4 |
| 10 | g.129766816_129766817dup | CA2574707796 | MGMT | c.536_537dup (p.Val180TrpfsTer17) c.443_444dup (p.Val149TrpfsTer17) c.266_267dup (p.Val90TrpfsTer17) c.452_453dup (p.Val152TrpfsTer17) | |
| 10 | g.129766816T>A | CA378712983 | MGMT | c.536T>A (p.Val179Glu) c.443T>A (p.Val148Glu) c.266T>A (p.Val89Glu) c.452T>A (p.Val151Glu) | |
| 10 | g.129766816T>C | CA378712984 | MGMT | c.536T>C (p.Val179Ala) c.443T>C (p.Val148Ala) c.266T>C (p.Val89Ala) c.452T>C (p.Val151Ala) | gnomAD v4 |
| 10 | g.129766816T>G | CA378712985 | MGMT | c.536T>G (p.Val179Gly) c.443T>G (p.Val148Gly) c.266T>G (p.Val89Gly) c.452T>G (p.Val151Gly) | |
| 10 | g.129766817G>A | CA471816463 | MGMT | c.537G>A (p.Val179=) c.444G>A (p.Val148=) c.267G>A (p.Val89=) c.453G>A (p.Val151=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.129766817G>C | CA471816464 | MGMT | c.537G>C (p.Val179=) c.444G>C (p.Val148=) c.267G>C (p.Val89=) c.453G>C (p.Val151=) | dbSNP |
| 10 | g.129766817G= | CA1944921601 | MGMT | c.537G= (p.Val179=) c.444G= (p.Val148=) c.267G= (p.Val89=) c.453G= (p.Val151=) | |
| 10 | g.129766817G>T | CA471816466 | MGMT | c.537G>T (p.Val179=) c.444G>T (p.Val148=) c.267G>T (p.Val89=) c.453G>T (p.Val151=) | gnomAD v4 COSMIC COSMIC |
| 10 | g.129766818G>A | CA378712986 | MGMT | c.538G>A (p.Val180Ile) c.445G>A (p.Val149Ile) c.268G>A (p.Val90Ile) c.454G>A (p.Val152Ile) | |
| 10 | g.129766818G>C | CA378712987 | MGMT | c.538G>C (p.Val180Leu) c.445G>C (p.Val149Leu) c.268G>C (p.Val90Leu) c.454G>C (p.Val152Leu) | |
| 10 | g.129766818G>T | CA378712988 | MGMT | c.538G>T (p.Val180Phe) c.445G>T (p.Val149Phe) c.268G>T (p.Val90Phe) c.454G>T (p.Val152Phe) | gnomAD v4 COSMIC COSMIC |
| 10 | g.129766819T>A | CA378712991 | MGMT | c.539T>A (p.Val180Asp) c.446T>A (p.Val149Asp) c.269T>A (p.Val90Asp) c.455T>A (p.Val152Asp) | |
| 10 | g.129766819T>C | CA378712989 | MGMT | c.539T>C (p.Val180Ala) c.446T>C (p.Val149Ala) c.269T>C (p.Val90Ala) c.455T>C (p.Val152Ala) | |
| 10 | g.129766819T>G | CA378712990 | MGMT | c.539T>G (p.Val180Gly) c.446T>G (p.Val149Gly) c.269T>G (p.Val90Gly) c.455T>G (p.Val152Gly) | |
| 10 | g.129766820C>A | CA471816469 | MGMT | c.540C>A (p.Val180=) c.447C>A (p.Val149=) c.270C>A (p.Val90=) c.456C>A (p.Val152=) | |
| 10 | g.129766820C>G | CA471816470 | MGMT | c.540C>G (p.Val180=) c.447C>G (p.Val149=) c.270C>G (p.Val90=) c.456C>G (p.Val152=) | |
| 10 | g.129766820C>T | CA471816471 | MGMT | c.540C>T (p.Val180=) c.447C>T (p.Val149=) c.270C>T (p.Val90=) c.456C>T (p.Val152=) |