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 |
|---|---|---|---|---|---|
| 6 | g.25812822T>A | CA645552928 | SLC17A1 | c.897+9A>T (n.897+9A>T) c.*148+9A>T (n.*148+9A>T) c.735+273A>T (n.735+273A>T) c.810+9A>T (n.810+9A>T) c.684+9A>T (n.684+9A>T) c.1047+9A>T (n.1047+9A>T) c.960+9A>T (n.960+9A>T) c.885+273A>T (n.885+273A>T) c.963+9A>T (n.963+9A>T) | COSMIC |
| 6 | g.25812824T>C | CA3662577 | SLC17A1 | c.897+7A>G (n.897+7A>G) c.*148+7A>G (n.*148+7A>G) c.735+271A>G (n.735+271A>G) c.810+7A>G (n.810+7A>G) c.684+7A>G (n.684+7A>G) c.1047+7A>G (n.1047+7A>G) c.960+7A>G (n.960+7A>G) c.885+271A>G (n.885+271A>G) c.963+7A>G (n.963+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812824T= | CA1616765593 | SLC17A1 | c.897+7A= (n.897+7A=) c.*148+7A= (n.*148+7A=) c.735+271A= (n.735+271A=) c.810+7A= (n.810+7A=) c.684+7A= (n.684+7A=) c.1047+7A= (n.1047+7A=) c.960+7A= (n.960+7A=) c.885+271A= (n.885+271A=) c.963+7A= (n.963+7A=) | |
| 6 | g.25812826C= | CA1616765595 | SLC17A1 | c.897+5G= (n.897+5G=) c.*148+5G= (n.*148+5G=) c.735+269G= (n.735+269G=) c.810+5G= (n.810+5G=) c.684+5G= (n.684+5G=) c.1047+5G= (n.1047+5G=) c.960+5G= (n.960+5G=) c.885+269G= (n.885+269G=) c.963+5G= (n.963+5G=) | |
| 6 | g.25812826C>T | CA1616765594 | SLC17A1 | c.897+5G>A (n.897+5G>A) c.*148+5G>A (n.*148+5G>A) c.735+269G>A (n.735+269G>A) c.810+5G>A (n.810+5G>A) c.684+5G>A (n.684+5G>A) c.1047+5G>A (n.1047+5G>A) c.960+5G>A (n.960+5G>A) c.885+269G>A (n.885+269G>A) c.963+5G>A (n.963+5G>A) | dbSNP gnomAD v4 |
| 6 | g.25812829A>C | CA363157721 | SLC17A1 | c.897+2T>G (n.897+2T>G) c.*148+2T>G (n.*148+2T>G) c.735+266T>G (n.735+266T>G) c.810+2T>G (n.810+2T>G) c.684+2T>G (n.684+2T>G) c.1047+2T>G (n.1047+2T>G) c.960+2T>G (n.960+2T>G) c.885+266T>G (n.885+266T>G) c.963+2T>G (n.963+2T>G) | |
| 6 | g.25812829A>G | CA363157723 | SLC17A1 | c.897+2T>C (n.897+2T>C) c.*148+2T>C (n.*148+2T>C) c.735+266T>C (n.735+266T>C) c.810+2T>C (n.810+2T>C) c.684+2T>C (n.684+2T>C) c.1047+2T>C (n.1047+2T>C) c.960+2T>C (n.960+2T>C) c.885+266T>C (n.885+266T>C) c.963+2T>C (n.963+2T>C) | gnomAD v4 |
| 6 | g.25812829A>T | CA363157724 | SLC17A1 | c.897+2T>A (n.897+2T>A) c.*148+2T>A (n.*148+2T>A) c.735+266T>A (n.735+266T>A) c.810+2T>A (n.810+2T>A) c.684+2T>A (n.684+2T>A) c.1047+2T>A (n.1047+2T>A) c.960+2T>A (n.960+2T>A) c.885+266T>A (n.885+266T>A) c.963+2T>A (n.963+2T>A) | |
| 6 | g.25812830C>A | CA363157725 | SLC17A1 | c.897+1G>T (n.897+1G>T) c.*148+1G>T (n.*148+1G>T) c.735+265G>T (n.735+265G>T) c.810+1G>T (n.810+1G>T) c.684+1G>T (n.684+1G>T) c.1047+1G>T (n.1047+1G>T) c.960+1G>T (n.960+1G>T) c.885+265G>T (n.885+265G>T) c.963+1G>T (n.963+1G>T) | |
| 6 | g.25812830C>G | CA363157726 | SLC17A1 | c.897+1G>C (n.897+1G>C) c.*148+1G>C (n.*148+1G>C) c.735+265G>C (n.735+265G>C) c.810+1G>C (n.810+1G>C) c.684+1G>C (n.684+1G>C) c.1047+1G>C (n.1047+1G>C) c.960+1G>C (n.960+1G>C) c.885+265G>C (n.885+265G>C) c.963+1G>C (n.963+1G>C) | |
| 6 | g.25812830C>T | CA363157727 | SLC17A1 | c.897+1G>A (n.897+1G>A) c.*148+1G>A (n.*148+1G>A) c.735+265G>A (n.735+265G>A) c.810+1G>A (n.810+1G>A) c.684+1G>A (n.684+1G>A) c.1047+1G>A (n.1047+1G>A) c.960+1G>A (n.960+1G>A) c.885+265G>A (n.885+265G>A) c.963+1G>A (n.963+1G>A) | |
| 6 | g.25812831C>A | CA363157728 | SLC17A1 | c.897G>T (p.Glu299Asp) c.*148G>T (n.*148G>T) c.735+264G>T (n.735+264G>T) c.810G>T (p.Glu270Asp) c.684G>T (p.Glu228Asp) c.1047G>T (p.Glu349Asp) c.960G>T (p.Glu320Asp) c.885+264G>T (n.885+264G>T) c.963G>T (p.Glu321Asp) | |
| 6 | g.25812831C= | CA1616765596 | SLC17A1 | c.897G= (p.Glu299=) c.*148G= (n.*148G=) c.735+264G= (n.735+264G=) c.810G= (p.Glu270=) c.684G= (p.Glu228=) c.1047G= (p.Glu349=) c.960G= (p.Glu320=) c.885+264G= (n.885+264G=) c.963G= (p.Glu321=) | |
| 6 | g.25812831C>G | CA363157730 | SLC17A1 | c.897G>C (p.Glu299Asp) c.*148G>C (n.*148G>C) c.735+264G>C (n.735+264G>C) c.810G>C (p.Glu270Asp) c.684G>C (p.Glu228Asp) c.1047G>C (p.Glu349Asp) c.960G>C (p.Glu320Asp) c.885+264G>C (n.885+264G>C) c.963G>C (p.Glu321Asp) | |
| 6 | g.25812831C>T | CA448980319 | SLC17A1 | c.897G>A (p.Glu299=) c.*148G>A (n.*148G>A) c.735+264G>A (n.735+264G>A) c.810G>A (p.Glu270=) c.684G>A (p.Glu228=) c.1047G>A (p.Glu349=) c.960G>A (p.Glu320=) c.885+264G>A (n.885+264G>A) c.963G>A (p.Glu321=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25812832T>A | CA363157732 | SLC17A1 | c.896A>T (p.Glu299Val) c.*147A>T (n.*147A>T) c.735+263A>T (n.735+263A>T) c.809A>T (p.Glu270Val) c.683A>T (p.Glu228Val) c.1046A>T (p.Glu349Val) c.959A>T (p.Glu320Val) c.885+263A>T (n.885+263A>T) c.962A>T (p.Glu321Val) | gnomAD v4 |
| 6 | g.25812832T>C | CA363157733 | SLC17A1 | c.896A>G (p.Glu299Gly) c.*147A>G (n.*147A>G) c.735+263A>G (n.735+263A>G) c.809A>G (p.Glu270Gly) c.683A>G (p.Glu228Gly) c.1046A>G (p.Glu349Gly) c.959A>G (p.Glu320Gly) c.885+263A>G (n.885+263A>G) c.962A>G (p.Glu321Gly) | |
| 6 | g.25812832T>G | CA363157734 | SLC17A1 | c.896A>C (p.Glu299Ala) c.*147A>C (n.*147A>C) c.735+263A>C (n.735+263A>C) c.809A>C (p.Glu270Ala) c.683A>C (p.Glu228Ala) c.1046A>C (p.Glu349Ala) c.959A>C (p.Glu320Ala) c.885+263A>C (n.885+263A>C) c.962A>C (p.Glu321Ala) | |
| 6 | g.25812833C>A | CA363157738 | SLC17A1 | c.895G>T (p.Glu299Ter) c.*146G>T (n.*146G>T) c.735+262G>T (n.735+262G>T) c.808G>T (p.Glu270Ter) c.682G>T (p.Glu228Ter) c.1045G>T (p.Glu349Ter) c.958G>T (p.Glu320Ter) c.885+262G>T (n.885+262G>T) c.961G>T (p.Glu321Ter) | |
| 6 | g.25812833C>G | CA363157737 | SLC17A1 | c.895G>C (p.Glu299Gln) c.*146G>C (n.*146G>C) c.735+262G>C (n.735+262G>C) c.808G>C (p.Glu270Gln) c.682G>C (p.Glu228Gln) c.1045G>C (p.Glu349Gln) c.958G>C (p.Glu320Gln) c.885+262G>C (n.885+262G>C) c.961G>C (p.Glu321Gln) | |
| 6 | g.25812833C>T | CA363157735 | SLC17A1 | c.895G>A (p.Glu299Lys) c.*146G>A (n.*146G>A) c.735+262G>A (n.735+262G>A) c.808G>A (p.Glu270Lys) c.682G>A (p.Glu228Lys) c.1045G>A (p.Glu349Lys) c.958G>A (p.Glu320Lys) c.885+262G>A (n.885+262G>A) c.961G>A (p.Glu321Lys) | |
| 6 | g.25812834T>A | CA363157740 | SLC17A1 | c.894A>T (p.Lys298Asn) c.*145A>T (n.*145A>T) c.735+261A>T (n.735+261A>T) c.807A>T (p.Lys269Asn) c.681A>T (p.Lys227Asn) c.1044A>T (p.Lys348Asn) c.957A>T (p.Lys319Asn) c.885+261A>T (n.885+261A>T) c.960A>T (p.Lys320Asn) | |
| 6 | g.25812834T>C | CA448980320 | SLC17A1 | c.894A>G (p.Lys298=) c.*145A>G (n.*145A>G) c.735+261A>G (n.735+261A>G) c.807A>G (p.Lys269=) c.681A>G (p.Lys227=) c.1044A>G (p.Lys348=) c.957A>G (p.Lys319=) c.885+261A>G (n.885+261A>G) c.960A>G (p.Lys320=) | |
| 6 | g.25812834T>G | CA3662578 | SLC17A1 | c.894A>C (p.Lys298Asn) c.*145A>C (n.*145A>C) c.735+261A>C (n.735+261A>C) c.807A>C (p.Lys269Asn) c.681A>C (p.Lys227Asn) c.1044A>C (p.Lys348Asn) c.957A>C (p.Lys319Asn) c.885+261A>C (n.885+261A>C) c.960A>C (p.Lys320Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25812834T= | CA1616765597 | SLC17A1 | c.894A= (p.Lys298=) c.*145A= (n.*145A=) c.735+261A= (n.735+261A=) c.807A= (p.Lys269=) c.681A= (p.Lys227=) c.1044A= (p.Lys348=) c.957A= (p.Lys319=) c.885+261A= (n.885+261A=) c.960A= (p.Lys320=) | |
| 6 | g.25812835T>A | CA363157744 | SLC17A1 | c.893A>T (p.Lys298Ile) c.*144A>T (n.*144A>T) c.735+260A>T (n.735+260A>T) c.806A>T (p.Lys269Ile) c.680A>T (p.Lys227Ile) c.1043A>T (p.Lys348Ile) c.956A>T (p.Lys319Ile) c.885+260A>T (n.885+260A>T) c.959A>T (p.Lys320Ile) | |
| 6 | g.25812835T>C | CA363157746 | SLC17A1 | c.893A>G (p.Lys298Arg) c.*144A>G (n.*144A>G) c.735+260A>G (n.735+260A>G) c.806A>G (p.Lys269Arg) c.680A>G (p.Lys227Arg) c.1043A>G (p.Lys348Arg) c.956A>G (p.Lys319Arg) c.885+260A>G (n.885+260A>G) c.959A>G (p.Lys320Arg) | |
| 6 | g.25812835T>G | CA363157748 | SLC17A1 | c.893A>C (p.Lys298Thr) c.*144A>C (n.*144A>C) c.735+260A>C (n.735+260A>C) c.806A>C (p.Lys269Thr) c.680A>C (p.Lys227Thr) c.1043A>C (p.Lys348Thr) c.956A>C (p.Lys319Thr) c.885+260A>C (n.885+260A>C) c.959A>C (p.Lys320Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25812835T= | CA1616765598 | SLC17A1 | c.893A= (p.Lys298=) c.*144A= (n.*144A=) c.735+260A= (n.735+260A=) c.806A= (p.Lys269=) c.680A= (p.Lys227=) c.1043A= (p.Lys348=) c.956A= (p.Lys319=) c.885+260A= (n.885+260A=) c.959A= (p.Lys320=) | |
| 6 | g.25812836T>A | CA363157750 | SLC17A1 | c.892A>T (p.Lys298Ter) c.*143A>T (n.*143A>T) c.735+259A>T (n.735+259A>T) c.805A>T (p.Lys269Ter) c.679A>T (p.Lys227Ter) c.1042A>T (p.Lys348Ter) c.955A>T (p.Lys319Ter) c.885+259A>T (n.885+259A>T) c.958A>T (p.Lys320Ter) | |
| 6 | g.25812836T>C | CA363157752 | SLC17A1 | c.892A>G (p.Lys298Glu) c.*143A>G (n.*143A>G) c.735+259A>G (n.735+259A>G) c.805A>G (p.Lys269Glu) c.679A>G (p.Lys227Glu) c.1042A>G (p.Lys348Glu) c.955A>G (p.Lys319Glu) c.885+259A>G (n.885+259A>G) c.958A>G (p.Lys320Glu) | gnomAD v4 |
| 6 | g.25812836T>G | CA363157754 | SLC17A1 | c.892A>C (p.Lys298Gln) c.*143A>C (n.*143A>C) c.735+259A>C (n.735+259A>C) c.805A>C (p.Lys269Gln) c.679A>C (p.Lys227Gln) c.1042A>C (p.Lys348Gln) c.955A>C (p.Lys319Gln) c.885+259A>C (n.885+259A>C) c.958A>C (p.Lys320Gln) | |
| 6 | g.25812837T>A | CA448980321 | SLC17A1 | c.891A>T (p.Ile297=) c.*142A>T (n.*142A>T) c.735+258A>T (n.735+258A>T) c.804A>T (p.Ile268=) c.678A>T (p.Ile226=) c.1041A>T (p.Ile347=) c.954A>T (p.Ile318=) c.885+258A>T (n.885+258A>T) c.957A>T (p.Ile319=) | |
| 6 | g.25812837T>C | CA363157756 | SLC17A1 | c.891A>G (p.Ile297Met) c.*142A>G (n.*142A>G) c.735+258A>G (n.735+258A>G) c.804A>G (p.Ile268Met) c.678A>G (p.Ile226Met) c.1041A>G (p.Ile347Met) c.954A>G (p.Ile318Met) c.885+258A>G (n.885+258A>G) c.957A>G (p.Ile319Met) | COSMIC |
| 6 | g.25812837T>G | CA448980322 | SLC17A1 | c.891A>C (p.Ile297=) c.*142A>C (n.*142A>C) c.735+258A>C (n.735+258A>C) c.804A>C (p.Ile268=) c.678A>C (p.Ile226=) c.1041A>C (p.Ile347=) c.954A>C (p.Ile318=) c.885+258A>C (n.885+258A>C) c.957A>C (p.Ile319=) | |
| 6 | g.25812838A>C | CA363157757 | SLC17A1 | c.890T>G (p.Ile297Arg) c.*141T>G (n.*141T>G) c.735+257T>G (n.735+257T>G) c.803T>G (p.Ile268Arg) c.677T>G (p.Ile226Arg) c.1040T>G (p.Ile347Arg) c.953T>G (p.Ile318Arg) c.885+257T>G (n.885+257T>G) c.956T>G (p.Ile319Arg) | |
| 6 | g.25812838A>G | CA363157758 | SLC17A1 | c.890T>C (p.Ile297Thr) c.*141T>C (n.*141T>C) c.735+257T>C (n.735+257T>C) c.803T>C (p.Ile268Thr) c.677T>C (p.Ile226Thr) c.1040T>C (p.Ile347Thr) c.953T>C (p.Ile318Thr) c.885+257T>C (n.885+257T>C) c.956T>C (p.Ile319Thr) | |
| 6 | g.25812838A>T | CA363157759 | SLC17A1 | c.890T>A (p.Ile297Lys) c.*141T>A (n.*141T>A) c.735+257T>A (n.735+257T>A) c.803T>A (p.Ile268Lys) c.677T>A (p.Ile226Lys) c.1040T>A (p.Ile347Lys) c.953T>A (p.Ile318Lys) c.885+257T>A (n.885+257T>A) c.956T>A (p.Ile319Lys) | |
| 6 | g.25812839T>A | CA363157761 | SLC17A1 | c.889A>T (p.Ile297Leu) c.*140A>T (n.*140A>T) c.735+256A>T (n.735+256A>T) c.802A>T (p.Ile268Leu) c.676A>T (p.Ile226Leu) c.1039A>T (p.Ile347Leu) c.952A>T (p.Ile318Leu) c.885+256A>T (n.885+256A>T) c.955A>T (p.Ile319Leu) | |
| 6 | g.25812839T>C | CA363157764 | SLC17A1 | c.889A>G (p.Ile297Val) c.*140A>G (n.*140A>G) c.735+256A>G (n.735+256A>G) c.802A>G (p.Ile268Val) c.676A>G (p.Ile226Val) c.1039A>G (p.Ile347Val) c.952A>G (p.Ile318Val) c.885+256A>G (n.885+256A>G) c.955A>G (p.Ile319Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.25812839T>G | CA363157763 | SLC17A1 | c.889A>C (p.Ile297Leu) c.*140A>C (n.*140A>C) c.735+256A>C (n.735+256A>C) c.802A>C (p.Ile268Leu) c.676A>C (p.Ile226Leu) c.1039A>C (p.Ile347Leu) c.952A>C (p.Ile318Leu) c.885+256A>C (n.885+256A>C) c.955A>C (p.Ile319Leu) | |
| 6 | g.25812839T= | CA1616765599 | SLC17A1 | c.889A= (p.Ile297=) c.*140A= (n.*140A=) c.735+256A= (n.735+256A=) c.802A= (p.Ile268=) c.676A= (p.Ile226=) c.1039A= (p.Ile347=) c.952A= (p.Ile318=) c.885+256A= (n.885+256A=) c.955A= (p.Ile319=) | |
| 6 | g.25812840A= | CA1616765600 | SLC17A1 | c.888T= (p.Asn296=) c.*139T= (n.*139T=) c.735+255T= (n.735+255T=) c.801T= (p.Asn267=) c.675T= (p.Asn225=) c.1038T= (p.Asn346=) c.951T= (p.Asn317=) c.885+255T= (n.885+255T=) c.954T= (p.Asn318=) | |
| 6 | g.25812840A>C | CA363157766 | SLC17A1 | c.888T>G (p.Asn296Lys) c.*139T>G (n.*139T>G) c.735+255T>G (n.735+255T>G) c.801T>G (p.Asn267Lys) c.675T>G (p.Asn225Lys) c.1038T>G (p.Asn346Lys) c.951T>G (p.Asn317Lys) c.885+255T>G (n.885+255T>G) c.954T>G (p.Asn318Lys) | |
| 6 | g.25812840A>G | CA448980323 | SLC17A1 | c.888T>C (p.Asn296=) c.*139T>C (n.*139T>C) c.735+255T>C (n.735+255T>C) c.801T>C (p.Asn267=) c.675T>C (p.Asn225=) c.1038T>C (p.Asn346=) c.951T>C (p.Asn317=) c.885+255T>C (n.885+255T>C) c.954T>C (p.Asn318=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25812840A>T | CA363157767 | SLC17A1 | c.888T>A (p.Asn296Lys) c.*139T>A (n.*139T>A) c.735+255T>A (n.735+255T>A) c.801T>A (p.Asn267Lys) c.675T>A (p.Asn225Lys) c.1038T>A (p.Asn346Lys) c.951T>A (p.Asn317Lys) c.885+255T>A (n.885+255T>A) c.954T>A (p.Asn318Lys) | |
| 6 | g.25812841T>A | CA363157769 | SLC17A1 | c.887A>T (p.Asn296Ile) c.*138A>T (n.*138A>T) c.735+254A>T (n.735+254A>T) c.800A>T (p.Asn267Ile) c.674A>T (p.Asn225Ile) c.1037A>T (p.Asn346Ile) c.950A>T (p.Asn317Ile) c.885+254A>T (n.885+254A>T) c.953A>T (p.Asn318Ile) | |
| 6 | g.25812841T>C | CA363157771 | SLC17A1 | c.887A>G (p.Asn296Ser) c.*138A>G (n.*138A>G) c.735+254A>G (n.735+254A>G) c.800A>G (p.Asn267Ser) c.674A>G (p.Asn225Ser) c.1037A>G (p.Asn346Ser) c.950A>G (p.Asn317Ser) c.885+254A>G (n.885+254A>G) c.953A>G (p.Asn318Ser) | |
| 6 | g.25812841T>G | CA363157772 | SLC17A1 | c.887A>C (p.Asn296Thr) c.*138A>C (n.*138A>C) c.735+254A>C (n.735+254A>C) c.800A>C (p.Asn267Thr) c.674A>C (p.Asn225Thr) c.1037A>C (p.Asn346Thr) c.950A>C (p.Asn317Thr) c.885+254A>C (n.885+254A>C) c.953A>C (p.Asn318Thr) | |
| 6 | g.25812842dup | CA2677592039 | SLC17A1 | c.887dup (p.Asn296LysfsTer21) c.*138dup (n.*138dup) c.735+254dup (n.735+254dup) c.800dup (p.Asn267LysfsTer21) c.674dup (p.Asn225LysfsTer21) c.1037dup (p.Asn346LysfsTer21) c.950dup (p.Asn317LysfsTer21) c.885+254dup (n.885+254dup) c.953dup (p.Asn318LysfsTer21) | gnomAD v4 |