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 |
|---|---|---|---|---|---|
| 11 | g.113412655G>A | CA228625632 | DRD2 | c.1039C>T (p.Pro347Ser) c.952C>T (p.Pro318Ser) c.1045C>T (p.Pro349Ser) c.1036C>T (p.Pro346Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412655G>C | CA382649838 | DRD2 | c.1039C>G (p.Pro347Ala) c.952C>G (p.Pro318Ala) c.1045C>G (p.Pro349Ala) c.1036C>G (p.Pro346Ala) | |
| 11 | g.113412655G= | CA2001167960 | DRD2 | c.1039C= (p.Pro347=) c.952C= (p.Pro318=) c.1045C= (p.Pro349=) c.1036C= (p.Pro346=) | |
| 11 | g.113412655G>T | CA382649840 | DRD2 | c.1039C>A (p.Pro347Thr) c.952C>A (p.Pro318Thr) c.1045C>A (p.Pro349Thr) c.1036C>A (p.Pro346Thr) | |
| 11 | g.113412656C>A | CA382649841 | DRD2 | c.1038G>T (p.Met346Ile) c.951G>T (p.Met317Ile) c.1044G>T (p.Met348Ile) c.1035G>T (p.Met345Ile) | |
| 11 | g.113412656C>G | CA382649843 | DRD2 | c.1038G>C (p.Met346Ile) c.951G>C (p.Met317Ile) c.1044G>C (p.Met348Ile) c.1035G>C (p.Met345Ile) | |
| 11 | g.113412656C>T | CA382649845 | DRD2 | c.1038G>A (p.Met346Ile) c.951G>A (p.Met317Ile) c.1044G>A (p.Met348Ile) c.1035G>A (p.Met345Ile) | |
| 11 | g.113412657A= | CA2001167961 | DRD2 | c.1037T= (p.Met346=) c.950T= (p.Met317=) c.1043T= (p.Met348=) c.1034T= (p.Met345=) | |
| 11 | g.113412657A>C | CA382649847 | DRD2 | c.1037T>G (p.Met346Arg) c.950T>G (p.Met317Arg) c.1043T>G (p.Met348Arg) c.1034T>G (p.Met345Arg) | |
| 11 | g.113412657A>G | CA382649849 | DRD2 | c.1037T>C (p.Met346Thr) c.950T>C (p.Met317Thr) c.1043T>C (p.Met348Thr) c.1034T>C (p.Met345Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412657A>T | CA382649851 | DRD2 | c.1037T>A (p.Met346Lys) c.950T>A (p.Met317Lys) c.1043T>A (p.Met348Lys) c.1034T>A (p.Met345Lys) | |
| 11 | g.113412658T>A | CA382649853 | DRD2 | c.1036A>T (p.Met346Leu) c.949A>T (p.Met317Leu) c.1042A>T (p.Met348Leu) c.1033A>T (p.Met345Leu) | |
| 11 | g.113412658T>C | CA382649856 | DRD2 | c.1036A>G (p.Met346Val) c.949A>G (p.Met317Val) c.1042A>G (p.Met348Val) c.1033A>G (p.Met345Val) | |
| 11 | g.113412658T>G | CA382649857 | DRD2 | c.1036A>C (p.Met346Leu) c.949A>C (p.Met317Leu) c.1042A>C (p.Met348Leu) c.1033A>C (p.Met345Leu) | |
| 11 | g.113412659G>A | CA477043090 | DRD2 | c.1035C>T (p.Thr345=) c.948C>T (p.Thr316=) c.1041C>T (p.Thr347=) c.1032C>T (p.Thr344=) | |
| 11 | g.113412659G>C | CA477043089 | DRD2 | c.1035C>G (p.Thr345=) c.948C>G (p.Thr316=) c.1041C>G (p.Thr347=) c.1032C>G (p.Thr344=) | |
| 11 | g.113412659G>T | CA477043088 | DRD2 | c.1035C>A (p.Thr345=) c.948C>A (p.Thr316=) c.1041C>A (p.Thr347=) c.1032C>A (p.Thr344=) | |
| 11 | g.113412660G>A | CA382649860 | DRD2 | c.1034C>T (p.Thr345Ile) c.947C>T (p.Thr316Ile) c.1040C>T (p.Thr347Ile) c.1031C>T (p.Thr344Ile) | |
| 11 | g.113412660G>C | CA382649858 | DRD2 | c.1034C>G (p.Thr345Ser) c.947C>G (p.Thr316Ser) c.1040C>G (p.Thr347Ser) c.1031C>G (p.Thr344Ser) | |
| 11 | g.113412660G>T | CA382649859 | DRD2 | c.1034C>A (p.Thr345Asn) c.947C>A (p.Thr316Asn) c.1040C>A (p.Thr347Asn) c.1031C>A (p.Thr344Asn) | dbSNP COSMIC COSMIC |
| 11 | g.113412661T>A | CA382649862 | DRD2 | c.1033A>T (p.Thr345Ser) c.946A>T (p.Thr316Ser) c.1039A>T (p.Thr347Ser) c.1030A>T (p.Thr344Ser) | |
| 11 | g.113412661T>C | CA382649864 | DRD2 | c.1033A>G (p.Thr345Ala) c.946A>G (p.Thr316Ala) c.1039A>G (p.Thr347Ala) c.1030A>G (p.Thr344Ala) | |
| 11 | g.113412661T>G | CA382649865 | DRD2 | c.1033A>C (p.Thr345Pro) c.946A>C (p.Thr316Pro) c.1039A>C (p.Thr347Pro) c.1030A>C (p.Thr344Pro) | |
| 11 | g.113412662C>A | CA382649867 | DRD2 | c.1032G>T (p.Gln344His) c.945G>T (p.Gln315His) c.1038G>T (p.Gln346His) c.1029G>T (p.Gln343His) | |
| 11 | g.113412662C>G | CA382649869 | DRD2 | c.1032G>C (p.Gln344His) c.945G>C (p.Gln315His) c.1038G>C (p.Gln346His) c.1029G>C (p.Gln343His) | |
| 11 | g.113412662C>T | CA477043091 | DRD2 | c.1032G>A (p.Gln344=) c.945G>A (p.Gln315=) c.1038G>A (p.Gln346=) c.1029G>A (p.Gln343=) | COSMIC COSMIC |
| 11 | g.113412663T>A | CA382649870 | DRD2 | c.1031A>T (p.Gln344Leu) c.944A>T (p.Gln315Leu) c.1037A>T (p.Gln346Leu) c.1028A>T (p.Gln343Leu) | |
| 11 | g.113412663T>C | CA382649872 | DRD2 | c.1031A>G (p.Gln344Arg) c.944A>G (p.Gln315Arg) c.1037A>G (p.Gln346Arg) c.1028A>G (p.Gln343Arg) | |
| 11 | g.113412663T>G | CA382649874 | DRD2 | c.1031A>C (p.Gln344Pro) c.944A>C (p.Gln315Pro) c.1037A>C (p.Gln346Pro) c.1028A>C (p.Gln343Pro) | |
| 11 | g.113412664G>A | CA382649876 | DRD2 | c.1030C>T (p.Gln344Ter) c.943C>T (p.Gln315Ter) c.1036C>T (p.Gln346Ter) c.1027C>T (p.Gln343Ter) | |
| 11 | g.113412664G>C | CA382649878 | DRD2 | c.1030C>G (p.Gln344Glu) c.943C>G (p.Gln315Glu) c.1036C>G (p.Gln346Glu) c.1027C>G (p.Gln343Glu) | |
| 11 | g.113412664G>T | CA382649880 | DRD2 | c.1030C>A (p.Gln344Lys) c.943C>A (p.Gln315Lys) c.1036C>A (p.Gln346Lys) c.1027C>A (p.Gln343Lys) | COSMIC COSMIC |
| 11 | g.113412665G>A | CA477043092 | DRD2 | c.1029C>T (p.Ile343=) c.942C>T (p.Ile314=) c.1035C>T (p.Ile345=) c.1026C>T (p.Ile342=) | |
| 11 | g.113412665G>C | CA382649882 | DRD2 | c.1029C>G (p.Ile343Met) c.942C>G (p.Ile314Met) c.1035C>G (p.Ile345Met) c.1026C>G (p.Ile342Met) | dbSNP |
| 11 | g.113412665G= | CA2001167962 | DRD2 | c.1029C= (p.Ile343=) c.942C= (p.Ile314=) c.1035C= (p.Ile345=) c.1026C= (p.Ile342=) | |
| 11 | g.113412665G>T | CA477043093 | DRD2 | c.1029C>A (p.Ile343=) c.942C>A (p.Ile314=) c.1035C>A (p.Ile345=) c.1026C>A (p.Ile342=) | |
| 11 | g.113412666A>C | CA382649887 | DRD2 | c.1028T>G (p.Ile343Ser) c.941T>G (p.Ile314Ser) c.1034T>G (p.Ile345Ser) c.1025T>G (p.Ile342Ser) | |
| 11 | g.113412666A>G | CA382649884 | DRD2 | c.1028T>C (p.Ile343Thr) c.941T>C (p.Ile314Thr) c.1034T>C (p.Ile345Thr) c.1025T>C (p.Ile342Thr) | gnomAD v4 |
| 11 | g.113412666A>T | CA382649885 | DRD2 | c.1028T>A (p.Ile343Asn) c.941T>A (p.Ile314Asn) c.1034T>A (p.Ile345Asn) c.1025T>A (p.Ile342Asn) | |
| 11 | g.113412667T>A | CA382649889 | DRD2 | c.1027A>T (p.Ile343Phe) c.940A>T (p.Ile314Phe) c.1033A>T (p.Ile345Phe) c.1024A>T (p.Ile342Phe) | |
| 11 | g.113412667T>C | CA382649891 | DRD2 | c.1027A>G (p.Ile343Val) c.940A>G (p.Ile314Val) c.1033A>G (p.Ile345Val) c.1024A>G (p.Ile342Val) | |
| 11 | g.113412667T>G | CA382649892 | DRD2 | c.1027A>C (p.Ile343Leu) c.940A>C (p.Ile314Leu) c.1033A>C (p.Ile345Leu) c.1024A>C (p.Ile342Leu) | |
| 11 | g.113412668C>A | CA382649894 | DRD2 | c.1026G>T (p.Glu342Asp) c.939G>T (p.Glu313Asp) c.1032G>T (p.Glu344Asp) c.1023G>T (p.Glu341Asp) | |
| 11 | g.113412668C>G | CA382649896 | DRD2 | c.1026G>C (p.Glu342Asp) c.939G>C (p.Glu313Asp) c.1032G>C (p.Glu344Asp) c.1023G>C (p.Glu341Asp) | |
| 11 | g.113412668C>T | CA477043094 | DRD2 | c.1026G>A (p.Glu342=) c.939G>A (p.Glu313=) c.1032G>A (p.Glu344=) c.1023G>A (p.Glu341=) | gnomAD v4 |
| 11 | g.113412669T>A | CA382649898 | DRD2 | c.1025A>T (p.Glu342Val) c.938A>T (p.Glu313Val) c.1031A>T (p.Glu344Val) c.1022A>T (p.Glu341Val) | |
| 11 | g.113412669T>C | CA382649900 | DRD2 | c.1025A>G (p.Glu342Gly) c.938A>G (p.Glu313Gly) c.1031A>G (p.Glu344Gly) c.1022A>G (p.Glu341Gly) | |
| 11 | g.113412669T>G | CA382649902 | DRD2 | c.1025A>C (p.Glu342Ala) c.938A>C (p.Glu313Ala) c.1031A>C (p.Glu344Ala) c.1022A>C (p.Glu341Ala) | |
| 11 | g.113412670C>A | CA382649904 | DRD2 | c.1024G>T (p.Glu342Ter) c.937G>T (p.Glu313Ter) c.1030G>T (p.Glu344Ter) c.1021G>T (p.Glu341Ter) | |
| 11 | g.113412670C>G | CA382649906 | DRD2 | c.1024G>C (p.Glu342Gln) c.937G>C (p.Glu313Gln) c.1030G>C (p.Glu344Gln) c.1021G>C (p.Glu341Gln) | gnomAD v4 |