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 |
|---|---|---|---|---|---|
| 3 | g.45772515A>C | CA352453819 | SLC6A20 | c.683T>G (p.Phe228Cys) c.583-1057T>G (n.583-1057T>G) c.542T>G (p.Phe181Cys) c.386T>G (p.Phe129Cys) | |
| 3 | g.45772515A>G | CA352453820 | SLC6A20 | c.683T>C (p.Phe228Ser) c.583-1057T>C (n.583-1057T>C) c.542T>C (p.Phe181Ser) c.386T>C (p.Phe129Ser) | |
| 3 | g.45772515A>T | CA352453822 | SLC6A20 | c.683T>A (p.Phe228Tyr) c.583-1057T>A (n.583-1057T>A) c.542T>A (p.Phe181Tyr) c.386T>A (p.Phe129Tyr) | gnomAD v4 |
| 3 | g.45772516A>C | CA352453824 | SLC6A20 | c.682T>G (p.Phe228Val) c.583-1058T>G (n.583-1058T>G) c.541T>G (p.Phe181Val) c.385T>G (p.Phe129Val) | |
| 3 | g.45772516A>G | CA352453825 | SLC6A20 | c.682T>C (p.Phe228Leu) c.583-1058T>C (n.583-1058T>C) c.541T>C (p.Phe181Leu) c.385T>C (p.Phe129Leu) | gnomAD v4 |
| 3 | g.45772516A>T | CA352453823 | SLC6A20 | c.682T>A (p.Phe228Ile) c.583-1058T>A (n.583-1058T>A) c.541T>A (p.Phe181Ile) c.385T>A (p.Phe129Ile) | |
| 3 | g.45772517C>A | CA352453827 | SLC6A20 | c.681G>T (p.Met227Ile) c.583-1059G>T (n.583-1059G>T) c.540G>T (p.Met180Ile) c.384G>T (p.Met128Ile) | gnomAD v4 |
| 3 | g.45772517C>G | CA352453829 | SLC6A20 | c.681G>C (p.Met227Ile) c.583-1059G>C (n.583-1059G>C) c.540G>C (p.Met180Ile) c.384G>C (p.Met128Ile) | |
| 3 | g.45772517C>T | CA352453832 | SLC6A20 | c.681G>A (p.Met227Ile) c.583-1059G>A (n.583-1059G>A) c.540G>A (p.Met180Ile) c.384G>A (p.Met128Ile) | |
| 3 | g.45772518A>C | CA352453840 | SLC6A20 | c.680T>G (p.Met227Arg) c.583-1060T>G (n.583-1060T>G) c.539T>G (p.Met180Arg) c.383T>G (p.Met128Arg) | |
| 3 | g.45772518A>G | CA352453841 | SLC6A20 | c.680T>C (p.Met227Thr) c.583-1060T>C (n.583-1060T>C) c.539T>C (p.Met180Thr) c.383T>C (p.Met128Thr) | |
| 3 | g.45772518A>T | CA352453843 | SLC6A20 | c.680T>A (p.Met227Lys) c.583-1060T>A (n.583-1060T>A) c.539T>A (p.Met180Lys) c.383T>A (p.Met128Lys) | |
| 3 | g.45772519T>A | CA352453846 | SLC6A20 | c.679A>T (p.Met227Leu) c.583-1061A>T (n.583-1061A>T) c.538A>T (p.Met180Leu) c.382A>T (p.Met128Leu) | |
| 3 | g.45772519T>C | CA352453854 | SLC6A20 | c.679A>G (p.Met227Val) c.583-1061A>G (n.583-1061A>G) c.538A>G (p.Met180Val) c.382A>G (p.Met128Val) | dbSNP gnomAD v4 |
| 3 | g.45772519T>G | CA352453855 | SLC6A20 | c.679A>C (p.Met227Leu) c.583-1061A>C (n.583-1061A>C) c.538A>C (p.Met180Leu) c.382A>C (p.Met128Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772519T= | CA1361819839 | SLC6A20 | c.679A= (p.Met227=) c.583-1061A= (n.583-1061A=) c.538A= (p.Met180=) c.382A= (p.Met128=) | |
| 3 | g.45772520G>A | CA2351531 | SLC6A20 | c.678C>T (p.Tyr226=) c.583-1062C>T (n.583-1062C>T) c.537C>T (p.Tyr179=) c.381C>T (p.Tyr127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772520G>C | CA352453867 | SLC6A20 | c.678C>G (p.Tyr226Ter) c.583-1062C>G (n.583-1062C>G) c.537C>G (p.Tyr179Ter) c.381C>G (p.Tyr127Ter) | |
| 3 | g.45772520G= | CA1361819842 | SLC6A20 | c.678C= (p.Tyr226=) c.583-1062C= (n.583-1062C=) c.537C= (p.Tyr179=) c.381C= (p.Tyr127=) | |
| 3 | g.45772520G>T | CA352453870 | SLC6A20 | c.678C>A (p.Tyr226Ter) c.583-1062C>A (n.583-1062C>A) c.537C>A (p.Tyr179Ter) c.381C>A (p.Tyr127Ter) | |
| 3 | g.45772521T>A | CA352453874 | SLC6A20 | c.677A>T (p.Tyr226Phe) c.583-1063A>T (n.583-1063A>T) c.536A>T (p.Tyr179Phe) c.380A>T (p.Tyr127Phe) | |
| 3 | g.45772521T>C | CA2351532 | SLC6A20 | c.677A>G (p.Tyr226Cys) c.583-1063A>G (n.583-1063A>G) c.536A>G (p.Tyr179Cys) c.380A>G (p.Tyr127Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772521T>G | CA352453871 | SLC6A20 | c.677A>C (p.Tyr226Ser) c.583-1063A>C (n.583-1063A>C) c.536A>C (p.Tyr179Ser) c.380A>C (p.Tyr127Ser) | |
| 3 | g.45772521T= | CA1361819845 | SLC6A20 | c.677A= (p.Tyr226=) c.583-1063A= (n.583-1063A=) c.536A= (p.Tyr179=) c.380A= (p.Tyr127=) | |
| 3 | g.45772522A= | CA1361819847 | SLC6A20 | c.676T= (p.Tyr226=) c.583-1064T= (n.583-1064T=) c.535T= (p.Tyr179=) c.379T= (p.Tyr127=) | |
| 3 | g.45772522A>C | CA352453879 | SLC6A20 | c.676T>G (p.Tyr226Asp) c.583-1064T>G (n.583-1064T>G) c.535T>G (p.Tyr179Asp) c.379T>G (p.Tyr127Asp) | gnomAD v4 |
| 3 | g.45772522A>G | CA352453880 | SLC6A20 | c.676T>C (p.Tyr226His) c.583-1064T>C (n.583-1064T>C) c.535T>C (p.Tyr179His) c.379T>C (p.Tyr127His) | dbSNP |
| 3 | g.45772522A>T | CA352453881 | SLC6A20 | c.676T>A (p.Tyr226Asn) c.583-1064T>A (n.583-1064T>A) c.535T>A (p.Tyr179Asn) c.379T>A (p.Tyr127Asn) | |
| 3 | g.45772523C>A | CA352453882 | SLC6A20 | c.675G>T (p.Met225Ile) c.583-1065G>T (n.583-1065G>T) c.534G>T (p.Met178Ile) c.378G>T (p.Met126Ile) | |
| 3 | g.45772523C>G | CA352453883 | SLC6A20 | c.675G>C (p.Met225Ile) c.583-1065G>C (n.583-1065G>C) c.534G>C (p.Met178Ile) c.378G>C (p.Met126Ile) | |
| 3 | g.45772523C>T | CA352453884 | SLC6A20 | c.675G>A (p.Met225Ile) c.583-1065G>A (n.583-1065G>A) c.534G>A (p.Met178Ile) c.378G>A (p.Met126Ile) | gnomAD v4 |
| 3 | g.45772524A= | CA1361819849 | SLC6A20 | c.674T= (p.Met225=) c.583-1066T= (n.583-1066T=) c.533T= (p.Met178=) c.377T= (p.Met126=) | |
| 3 | g.45772524A>C | CA352453888 | SLC6A20 | c.674T>G (p.Met225Arg) c.583-1066T>G (n.583-1066T>G) c.533T>G (p.Met178Arg) c.377T>G (p.Met126Arg) | gnomAD v4 |
| 3 | g.45772524A>G | CA352453898 | SLC6A20 | c.674T>C (p.Met225Thr) c.583-1066T>C (n.583-1066T>C) c.533T>C (p.Met178Thr) c.377T>C (p.Met126Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772524A>T | CA352453902 | SLC6A20 | c.674T>A (p.Met225Lys) c.583-1066T>A (n.583-1066T>A) c.533T>A (p.Met178Lys) c.377T>A (p.Met126Lys) | dbSNP gnomAD v4 |
| 3 | g.45772524_45772525del | CA2577572495 | SLC6A20 | c.673_674del (p.Met225ValfsTer?) c.583-1067_583-1066del (n.583-1067_583-1066del) c.532_533del (p.Met178ValfsTer?) c.376_377del (p.Met126ValfsTer?) | |
| 3 | g.45772525T>A | CA352453908 | SLC6A20 | c.673A>T (p.Met225Leu) c.583-1067A>T (n.583-1067A>T) c.532A>T (p.Met178Leu) c.376A>T (p.Met126Leu) | |
| 3 | g.45772525T>C | CA352453910 | SLC6A20 | c.673A>G (p.Met225Val) c.583-1067A>G (n.583-1067A>G) c.532A>G (p.Met178Val) c.376A>G (p.Met126Val) | |
| 3 | g.45772525T>G | CA352453911 | SLC6A20 | c.673A>C (p.Met225Leu) c.583-1067A>C (n.583-1067A>C) c.532A>C (p.Met178Leu) c.376A>C (p.Met126Leu) | |
| 3 | g.45772526G>A | CA433447626 | SLC6A20 | c.672C>T (p.Leu224=) c.583-1068C>T (n.583-1068C>T) c.531C>T (p.Leu177=) c.375C>T (p.Leu125=) | gnomAD v4 |
| 3 | g.45772526G>C | CA433447627 | SLC6A20 | c.672C>G (p.Leu224=) c.583-1068C>G (n.583-1068C>G) c.531C>G (p.Leu177=) c.375C>G (p.Leu125=) | |
| 3 | g.45772526G>T | CA433447628 | SLC6A20 | c.672C>A (p.Leu224=) c.583-1068C>A (n.583-1068C>A) c.531C>A (p.Leu177=) c.375C>A (p.Leu125=) | |
| 3 | g.45772527A>C | CA352453914 | SLC6A20 | c.671T>G (p.Leu224Arg) c.583-1069T>G (n.583-1069T>G) c.530T>G (p.Leu177Arg) c.374T>G (p.Leu125Arg) | |
| 3 | g.45772527A>G | CA352453918 | SLC6A20 | c.671T>C (p.Leu224Pro) c.583-1069T>C (n.583-1069T>C) c.530T>C (p.Leu177Pro) c.374T>C (p.Leu125Pro) | |
| 3 | g.45772527A>T | CA352453916 | SLC6A20 | c.671T>A (p.Leu224His) c.583-1069T>A (n.583-1069T>A) c.530T>A (p.Leu177His) c.374T>A (p.Leu125His) | |
| 3 | g.45772528G>A | CA352453925 | SLC6A20 | c.670C>T (p.Leu224Phe) c.583-1070C>T (n.583-1070C>T) c.529C>T (p.Leu177Phe) c.373C>T (p.Leu125Phe) | COSMIC |
| 3 | g.45772528G>C | CA352453934 | SLC6A20 | c.670C>G (p.Leu224Val) c.583-1070C>G (n.583-1070C>G) c.529C>G (p.Leu177Val) c.373C>G (p.Leu125Val) | |
| 3 | g.45772528G>T | CA352453927 | SLC6A20 | c.670C>A (p.Leu224Ile) c.583-1070C>A (n.583-1070C>A) c.529C>A (p.Leu177Ile) c.373C>A (p.Leu125Ile) | |
| 3 | g.45772529G>A | CA433447629 | SLC6A20 | c.669C>T (p.Gly223=) c.583-1071C>T (n.583-1071C>T) c.528C>T (p.Gly176=) c.372C>T (p.Gly124=) | gnomAD v4 |
| 3 | g.45772529G>C | CA433447630 | SLC6A20 | c.669C>G (p.Gly223=) c.583-1071C>G (n.583-1071C>G) c.528C>G (p.Gly176=) c.372C>G (p.Gly124=) |