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 |
|---|---|---|---|---|---|
| 22 | g.42129771T>A | CA10265252 | CYP2D6 | c.319A>T (p.Thr107Ser) c.139A>T (p.Thr47Ser) c.253A>T (p.Thr85Ser) n.1043A>T c.176A>T (p.His59Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42129771T>C | CA411775014 | CYP2D6 | c.319A>G (p.Thr107Ala) c.139A>G (p.Thr47Ala) c.253A>G (p.Thr85Ala) n.1043A>G c.176A>G (p.His59Arg) | |
| 22 | g.42129771T>G | CA411775017 | CYP2D6 | c.319A>C (p.Thr107Pro) c.139A>C (p.Thr47Pro) c.253A>C (p.Thr85Pro) n.1043A>C c.176A>C (p.His59Pro) | |
| 22 | g.42129771T= | CA2406580332 | CYP2D6 | c.319A= (p.Thr107=) c.139A= (p.Thr47=) c.253A= (p.Thr85=) n.1043A= c.176A= (p.His59=) | |
| 22 | g.42129772G>A | CA514700622 | CYP2D6 | c.318C>T (p.Ile106=) c.138C>T (p.Ile46=) c.252C>T (p.Ile84=) n.1042C>T c.175C>T (p.His59Tyr) | dbSNP COSMIC COSMIC |
| 22 | g.42129772G>C | CA411775019 | CYP2D6 | c.318C>G (p.Ile106Met) c.138C>G (p.Ile46Met) c.252C>G (p.Ile84Met) n.1042C>G c.175C>G (p.His59Asp) | |
| 22 | g.42129772G= | CA2406580333 | CYP2D6 | c.318C= (p.Ile106=) c.138C= (p.Ile46=) c.252C= (p.Ile84=) n.1042C= c.175C= (p.His59=) | |
| 22 | g.42129772G>T | CA514700624 | CYP2D6 | c.318C>A (p.Ile106=) c.138C>A (p.Ile46=) c.252C>A (p.Ile84=) n.1042C>A c.175C>A (p.His59Asn) | gnomAD v4 |
| 22 | g.42129773A= | CA2406580334 | CYP2D6 | c.317T= (p.Ile106=) c.137T= (p.Ile46=) c.251T= (p.Ile84=) n.1041T= c.174T= (p.His58=) | |
| 22 | g.42129773A>C | CA411775021 | CYP2D6 | c.317T>G (p.Ile106Ser) c.137T>G (p.Ile46Ser) c.251T>G (p.Ile84Ser) n.1041T>G c.174T>G (p.His58Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42129773A>G | CA411775022 | CYP2D6 | c.317T>C (p.Ile106Thr) c.137T>C (p.Ile46Thr) c.251T>C (p.Ile84Thr) n.1041T>C c.174T>C (p.His58=) | |
| 22 | g.42129773A>T | CA411775024 | CYP2D6 | c.317T>A (p.Ile106Asn) c.137T>A (p.Ile46Asn) c.251T>A (p.Ile84Asn) n.1041T>A c.174T>A (p.His58Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42129774T>A | CA411775028 | CYP2D6 | c.316A>T (p.Ile106Phe) c.136A>T (p.Ile46Phe) c.250A>T (p.Ile84Phe) n.1040A>T c.173A>T (p.His58Leu) | |
| 22 | g.42129774T>C | CA411775030 | CYP2D6 | c.316A>G (p.Ile106Val) c.136A>G (p.Ile46Val) c.250A>G (p.Ile84Val) n.1040A>G c.173A>G (p.His58Arg) | |
| 22 | g.42129774T>G | CA411775027 | CYP2D6 | c.316A>C (p.Ile106Leu) c.136A>C (p.Ile46Leu) c.250A>C (p.Ile84Leu) n.1040A>C c.173A>C (p.His58Pro) | dbSNP |
| 22 | g.42129775G>A | CA514700633 | CYP2D6 | c.315C>T (p.Pro105=) c.135C>T (p.Pro45=) c.249C>T (p.Pro83=) n.1039C>T c.172C>T (p.His58Tyr) | dbSNP gnomAD v2 |
| 22 | g.42129775G>C | CA514700634 | CYP2D6 | c.315C>G (p.Pro105=) c.135C>G (p.Pro45=) c.249C>G (p.Pro83=) n.1039C>G c.172C>G (p.His58Asp) | gnomAD v4 |
| 22 | g.42129775G= | CA2406580335 | CYP2D6 | c.315C= (p.Pro105=) c.135C= (p.Pro45=) c.249C= (p.Pro83=) n.1039C= c.172C= (p.His58=) | |
| 22 | g.42129775G>T | CA514700636 | CYP2D6 | c.315C>A (p.Pro105=) c.135C>A (p.Pro45=) c.249C>A (p.Pro83=) n.1039C>A c.172C>A (p.His58Asn) | dbSNP |
| 22 | g.42129776G>A | CA324674309 | CYP2D6 | c.314C>T (p.Pro105Leu) c.134C>T (p.Pro45Leu) c.248C>T (p.Pro83Leu) n.1038C>T c.171C>T (p.Ala57=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42129776G>C | CA411775033 | CYP2D6 | c.314C>G (p.Pro105Arg) c.134C>G (p.Pro45Arg) c.248C>G (p.Pro83Arg) n.1038C>G c.171C>G (p.Ala57=) | |
| 22 | g.42129776G= | CA2406580336 | CYP2D6 | c.314C= (p.Pro105=) c.134C= (p.Pro45=) c.248C= (p.Pro83=) n.1038C= c.171C= (p.Ala57=) | |
| 22 | g.42129776G>T | CA10265253 | CYP2D6 | c.314C>A (p.Pro105His) c.134C>A (p.Pro45His) c.248C>A (p.Pro83His) n.1038C>A c.171C>A (p.Ala57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42129777G>A | CA411775035 | CYP2D6 | c.313C>T (p.Pro105Ser) c.133C>T (p.Pro45Ser) c.247C>T (p.Pro83Ser) n.1037C>T c.170C>T (p.Ala57Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42129777G>C | CA411775037 | CYP2D6 | c.313C>G (p.Pro105Ala) c.133C>G (p.Pro45Ala) c.247C>G (p.Pro83Ala) n.1037C>G c.170C>G (p.Ala57Gly) | |
| 22 | g.42129777G= | CA2406580337 | CYP2D6 | c.313C= (p.Pro105=) c.133C= (p.Pro45=) c.247C= (p.Pro83=) n.1037C= c.170C= (p.Ala57=) | |
| 22 | g.42129777G>T | CA411775038 | CYP2D6 | c.313C>A (p.Pro105Thr) c.133C>A (p.Pro45Thr) c.247C>A (p.Pro83Thr) n.1037C>A c.170C>A (p.Ala57Asp) | |
| 22 | g.42129778C>A | CA514700653 | CYP2D6 | c.312G>T (p.Val104=) c.132G>T (p.Val44=) c.246G>T (p.Val82=) n.1036G>T c.169G>T (p.Ala57Ser) | |
| 22 | g.42129778C>G | CA514700655 | CYP2D6 | c.312G>C (p.Val104=) c.132G>C (p.Val44=) c.246G>C (p.Val82=) n.1036G>C c.169G>C (p.Ala57Pro) | |
| 22 | g.42129778C>T | CA514700658 | CYP2D6 | c.312G>A (p.Val104=) c.132G>A (p.Val44=) c.246G>A (p.Val82=) n.1036G>A c.169G>A (p.Ala57Thr) | |
| 22 | g.42129779A= | CA2406580338 | CYP2D6 | c.311T= (p.Val104=) c.131T= (p.Val44=) c.245T= (p.Val82=) n.1035T= c.168T= (p.Cys56=) | |
| 22 | g.42129779A>C | CA411775041 | CYP2D6 | c.311T>G (p.Val104Gly) c.131T>G (p.Val44Gly) c.245T>G (p.Val82Gly) n.1035T>G c.168T>G (p.Cys56Trp) | dbSNP |
| 22 | g.42129779A>G | CA10265254 | CYP2D6 | c.311T>C (p.Val104Ala) c.131T>C (p.Val44Ala) c.245T>C (p.Val82Ala) n.1035T>C c.168T>C (p.Cys56=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42129779A>T | CA10265255 | CYP2D6 | c.311T>A (p.Val104Glu) c.131T>A (p.Val44Glu) c.245T>A (p.Val82Glu) n.1035T>A c.168T>A (p.Cys56Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42129780C>A | CA411775045 | CYP2D6 | c.310G>T (p.Val104Leu) c.130G>T (p.Val44Leu) c.244G>T (p.Val82Leu) n.1034G>T c.167G>T (p.Cys56Phe) | dbSNP |
| 22 | g.42129780C= | CA2406580340 | CYP2D6 | c.310G= (p.Val104=) c.130G= (p.Val44=) c.244G= (p.Val82=) n.1034G= c.167G= (p.Cys56=) | |
| 22 | g.42129780C>G | CA411775047 | CYP2D6 | c.310G>C (p.Val104Leu) c.130G>C (p.Val44Leu) c.244G>C (p.Val82Leu) n.1034G>C c.167G>C (p.Cys56Ser) | dbSNP |
| 22 | g.42129780C>T | CA324674321 | CYP2D6 | c.310G>A (p.Val104Met) c.130G>A (p.Val44Met) c.244G>A (p.Val82Met) n.1034G>A c.167G>A (p.Cys56Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42129781_42129784dup | CA2406580339 | CYP2D6 | c.307_310dup (p.Val104AlafsTer?) c.127_130dup (p.Val44AlafsTer?) c.241_244dup (p.Val82AlafsTer?) n.1031_1034dup c.164_167dup (p.Ala57LeufsTer?) | dbSNP gnomAD v4 |
| 22 | g.42129781A= | CA2406580341 | CYP2D6 | c.309T= (p.Pro103=) c.129T= (p.Pro43=) c.243T= (p.Pro81=) n.1033T= c.166T= (p.Cys56=) | |
| 22 | g.42129781A>C | CA514700674 | CYP2D6 | c.309T>G (p.Pro103=) c.129T>G (p.Pro43=) c.243T>G (p.Pro81=) n.1033T>G c.166T>G (p.Cys56Gly) | |
| 22 | g.42129781A>G | CA514700676 | CYP2D6 | c.309T>C (p.Pro103=) c.129T>C (p.Pro43=) c.243T>C (p.Pro81=) n.1033T>C c.166T>C (p.Cys56Arg) | dbSNP |
| 22 | g.42129781A>T | CA514700679 | CYP2D6 | c.309T>A (p.Pro103=) c.129T>A (p.Pro43=) c.243T>A (p.Pro81=) n.1033T>A c.166T>A (p.Cys56Ser) | |
| 22 | g.42129782G>A | CA411775055 | CYP2D6 | c.308C>T (p.Pro103Leu) c.128C>T (p.Pro43Leu) c.242C>T (p.Pro81Leu) n.1032C>T c.165C>T (p.Ala55=) | |
| 22 | g.42129782G>C | CA411775051 | CYP2D6 | c.308C>G (p.Pro103Arg) c.128C>G (p.Pro43Arg) c.242C>G (p.Pro81Arg) n.1032C>G c.165C>G (p.Ala55=) | |
| 22 | g.42129782G>T | CA411775053 | CYP2D6 | c.308C>A (p.Pro103His) c.128C>A (p.Pro43His) c.242C>A (p.Pro81His) n.1032C>A c.165C>A (p.Ala55=) | |
| 22 | g.42129787_42129790dup | CA639828354 | CYP2D6 | c.305_308dup (p.Val104AlafsTer?) c.125_128dup (p.Val44AlafsTer?) c.239_242dup (p.Val82AlafsTer?) n.1029_1032dup c.162_165dup (p.Cys56ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42129783G>A | CA411775057 | CYP2D6 | c.307C>T (p.Pro103Ser) c.127C>T (p.Pro43Ser) c.241C>T (p.Pro81Ser) n.1031C>T c.164C>T (p.Ala55Val) | |
| 22 | g.42129783G>C | CA411775059 | CYP2D6 | c.307C>G (p.Pro103Ala) c.127C>G (p.Pro43Ala) c.241C>G (p.Pro81Ala) n.1031C>G c.164C>G (p.Ala55Gly) | |
| 22 | g.42129783G>T | CA411775061 | CYP2D6 | c.307C>A (p.Pro103Thr) c.127C>A (p.Pro43Thr) c.241C>A (p.Pro81Thr) n.1031C>A c.164C>A (p.Ala55Asp) | gnomAD v4 |