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 |
|---|---|---|---|---|---|
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.15837T>A | CA913174980 | MT-CYB | c.1091T>A (p.Ile364Asn) | |
| MT | m.15837T>C | CA913174978 | MT-CYB | c.1091T>C (p.Ile364Thr) | dbSNP |
| MT | m.15837T>G | CA913174979 | MT-CYB | c.1091T>G (p.Ile364Ser) | |
| MT | m.15837T= | CA2573329894 | MT-CYB | c.1091T= (p.Ile364=) | |
| MT | m.15838C>A | CA913174981 | MT-CYB | c.1092C>A (p.Ile364=) | |
| MT | m.15838C= | CA2499569246 | MT-CYB | c.1092C= (p.Ile364=) | |
| MT | m.15838C>G | CA913174982 | MT-CYB | c.1092C>G (p.Ile364Met) | |
| MT | m.15838C>T | CA913174983 | MT-CYB | c.1092C>T (p.Ile364=) | dbSNP |
| MT | m.15839C>A | CA913174986 | MT-CYB | c.1093C>A (p.Leu365Ile) | |
| MT | m.15839C= | CA2573329898 | MT-CYB | c.1093C= (p.Leu365=) | |
| MT | m.15839C>G | CA913174985 | MT-CYB | c.1093C>G (p.Leu365Val) | |
| MT | m.15839C>T | CA913174984 | MT-CYB | c.1093C>T (p.Leu365=) | |
| MT | m.15840T>A | CA913174989 | MT-CYB | c.1094T>A (p.Leu365Gln) | |
| MT | m.15840T>C | CA913174988 | MT-CYB | c.1094T>C (p.Leu365Pro) | |
| MT | m.15840T>G | CA913174987 | MT-CYB | c.1094T>G (p.Leu365Arg) | |
| MT | m.15840T= | CA2573329899 | MT-CYB | c.1094T= (p.Leu365=) | |
| MT | m.15841A= | CA2499569247 | MT-CYB | c.1095A= (p.Leu365=) | |
| MT | m.15841A>C | CA913174992 | MT-CYB | c.1095A>C (p.Leu365=) | |
| MT | m.15841A>G | CA913174991 | MT-CYB | c.1095A>G (p.Leu365=) | dbSNP |
| MT | m.15841A>T | CA913174990 | MT-CYB | c.1095A>T (p.Leu365=) | |
| MT | m.15842A= | CA2573329901 | MT-CYB | c.1096A= (p.Ile366=) | |
| MT | m.15842A>C | CA913174995 | MT-CYB | c.1096A>C (p.Ile366Leu) | |
| MT | m.15842A>G | CA913174994 | MT-CYB | c.1096A>G (p.Ile366Val) | |
| MT | m.15842A>T | CA913174993 | MT-CYB | c.1096A>T (p.Ile366Leu) | |
| MT | m.15843T>A | CA913174997 | MT-CYB | c.1097T>A (p.Ile366Lys) | |
| MT | m.15843T>C | CA913174996 | MT-CYB | c.1097T>C (p.Ile366Thr) | ClinVar dbSNP |
| MT | m.15843T>G | CA913174998 | MT-CYB | c.1097T>G (p.Ile366Arg) | |
| MT | m.15843T= | CA2499569248 | MT-CYB | c.1097T= (p.Ile366=) | |
| MT | m.15844A= | CA2499569249 | MT-CYB | c.1098A= (p.Ile366=) | |
| MT | m.15844A>C | CA913174999 | MT-CYB | c.1098A>C (p.Ile366=) | |
| MT | m.15844A>G | CA913175001 | MT-CYB | c.1098A>G (p.Ile366Met) | dbSNP |
| MT | m.15844A>T | CA913175000 | MT-CYB | c.1098A>T (p.Ile366=) | |
| MT | m.15845C>A | CA913175002 | MT-CYB | c.1099C>A (p.Pro367Thr) | |
| MT | m.15845C= | CA2573329904 | MT-CYB | c.1099C= (p.Pro367=) | |
| MT | m.15845C>G | CA913175003 | MT-CYB | c.1099C>G (p.Pro367Ala) | |
| MT | m.15845C>T | CA913175004 | MT-CYB | c.1099C>T (p.Pro367Ser) | |
| MT | m.15846C>A | CA913175005 | MT-CYB | c.1100C>A (p.Pro367Gln) | |
| MT | m.15846C= | CA2573329905 | MT-CYB | c.1100C= (p.Pro367=) | |
| MT | m.15846C>G | CA913175007 | MT-CYB | c.1100C>G (p.Pro367Arg) | |
| MT | m.15846C>T | CA913175006 | MT-CYB | c.1100C>T (p.Pro367Leu) | |
| MT | m.15847A= | CA2573329907 | MT-CYB | c.1101A= (p.Pro367=) | |
| MT | m.15847A>C | CA913175010 | MT-CYB | c.1101A>C (p.Pro367=) | |
| MT | m.15847A>G | CA913175009 | MT-CYB | c.1101A>G (p.Pro367=) | |
| MT | m.15847A>T | CA913175008 | MT-CYB | c.1101A>T (p.Pro367=) | |
| MT | m.15848A= | CA2499569250 | MT-CYB | c.1102A= (p.Thr368=) | |
| MT | m.15848A>C | CA913175011 | MT-CYB | c.1102A>C (p.Thr368Pro) | |
| MT | m.15848A>G | CA16603354 | MT-CYB | c.1102A>G (p.Thr368Ala) | ClinVar dbSNP |
| MT | m.15848A>T | CA913175012 | MT-CYB | c.1102A>T (p.Thr368Ser) | |
| MT | m.15849C>A | CA913175014 | MT-CYB | c.1103C>A (p.Thr368Asn) |