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.42128882_42128886delinsTGAGG | CA2406579546 | CYP2D6 | c.411_415delinsCCTCA (p.Ser137=) c.564_568delinsCCTCA (p.Ser188=) c.231_235delinsCCTCA (p.Ser77=) c.498_502delinsCCTCA (p.Ser166=) n.1288_1292delinsCCTCA c.420_424delinsCCTCA (p.Ser140=) | |
| 22 | g.42128887_42128890del | CA10265034 | CYP2D6 | c.411_414del (p.Leu138ProfsTer19) c.564_567del (p.Leu189ProfsTer19) c.231_234del (p.Leu78ProfsTer19) c.498_501del (p.Leu167ProfsTer19) n.1288_1291del c.420_423del (p.Leu141ProfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42128886G>A | CA514697118 | CYP2D6 | c.411C>T (p.Ser137=) c.564C>T (p.Ser188=) c.231C>T (p.Ser77=) c.498C>T (p.Ser166=) n.1288C>T c.420C>T (p.Ser140=) | |
| 22 | g.42128886G>C | CA514697120 | CYP2D6 | c.411C>G (p.Ser137=) c.564C>G (p.Ser188=) c.231C>G (p.Ser77=) c.498C>G (p.Ser166=) n.1288C>G c.420C>G (p.Ser140=) | |
| 22 | g.42128886G>T | CA514697122 | CYP2D6 | c.411C>A (p.Ser137=) c.564C>A (p.Ser188=) c.231C>A (p.Ser77=) c.498C>A (p.Ser166=) n.1288C>A c.420C>A (p.Ser140=) | dbSNP gnomAD v4 |
| 22 | g.42128887G>A | CA411773982 | CYP2D6 | c.410C>T (p.Ser137Phe) c.563C>T (p.Ser188Phe) c.230C>T (p.Ser77Phe) c.497C>T (p.Ser166Phe) n.1287C>T c.419C>T (p.Ser140Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128887G>C | CA411773983 | CYP2D6 | c.410C>G (p.Ser137Cys) c.563C>G (p.Ser188Cys) c.230C>G (p.Ser77Cys) c.497C>G (p.Ser166Cys) n.1287C>G c.419C>G (p.Ser140Cys) | |
| 22 | g.42128887G= | CA2406579550 | CYP2D6 | c.410C= (p.Ser137=) c.563C= (p.Ser188=) c.230C= (p.Ser77=) c.497C= (p.Ser166=) n.1287C= c.419C= (p.Ser140=) | |
| 22 | g.42128887G>T | CA411773984 | CYP2D6 | c.410C>A (p.Ser137Tyr) c.563C>A (p.Ser188Tyr) c.230C>A (p.Ser77Tyr) c.497C>A (p.Ser166Tyr) n.1287C>A c.419C>A (p.Ser140Tyr) | dbSNP gnomAD v4 |
| 22 | g.42128888A= | CA2406579551 | CYP2D6 | c.409T= (p.Ser137=) c.562T= (p.Ser188=) c.229T= (p.Ser77=) c.496T= (p.Ser166=) n.1286T= c.418T= (p.Ser140=) | |
| 22 | g.42128888A>C | CA411773985 | CYP2D6 | c.409T>G (p.Ser137Ala) c.562T>G (p.Ser188Ala) c.229T>G (p.Ser77Ala) c.496T>G (p.Ser166Ala) n.1286T>G c.418T>G (p.Ser140Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128888A>G | CA10265036 | CYP2D6 | c.409T>C (p.Ser137Pro) c.562T>C (p.Ser188Pro) c.229T>C (p.Ser77Pro) c.496T>C (p.Ser166Pro) n.1286T>C c.418T>C (p.Ser140Pro) | dbSNP ExAC gnomAD v2 |
| 22 | g.42128888A>T | CA411773986 | CYP2D6 | c.409T>A (p.Ser137Thr) c.562T>A (p.Ser188Thr) c.229T>A (p.Ser77Thr) c.496T>A (p.Ser166Thr) n.1286T>A c.418T>A (p.Ser140Thr) | dbSNP gnomAD v4 |
| 22 | g.42128889G>A | CA514697138 | CYP2D6 | c.408C>T (p.Ala136=) c.561C>T (p.Ala187=) c.228C>T (p.Ala76=) c.495C>T (p.Ala165=) n.1285C>T c.417C>T (p.Ala139=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128889G>C | CA514697140 | CYP2D6 | c.408C>G (p.Ala136=) c.561C>G (p.Ala187=) c.228C>G (p.Ala76=) c.495C>G (p.Ala165=) n.1285C>G c.417C>G (p.Ala139=) | gnomAD v4 |
| 22 | g.42128889G= | CA2406579552 | CYP2D6 | c.408C= (p.Ala136=) c.561C= (p.Ala187=) c.228C= (p.Ala76=) c.495C= (p.Ala165=) n.1285C= c.417C= (p.Ala139=) | |
| 22 | g.42128889G>T | CA514697136 | CYP2D6 | c.408C>A (p.Ala136=) c.561C>A (p.Ala187=) c.228C>A (p.Ala76=) c.495C>A (p.Ala165=) n.1285C>A c.417C>A (p.Ala139=) | |
| 22 | g.42128890G>A | CA411773989 | CYP2D6 | c.407C>T (p.Ala136Val) c.560C>T (p.Ala187Val) c.227C>T (p.Ala76Val) c.494C>T (p.Ala165Val) n.1284C>T c.416C>T (p.Ala139Val) | |
| 22 | g.42128890G>C | CA411773987 | CYP2D6 | c.407C>G (p.Ala136Gly) c.560C>G (p.Ala187Gly) c.227C>G (p.Ala76Gly) c.494C>G (p.Ala165Gly) n.1284C>G c.416C>G (p.Ala139Gly) | |
| 22 | g.42128890G>T | CA411773988 | CYP2D6 | c.407C>A (p.Ala136Asp) c.560C>A (p.Ala187Asp) c.227C>A (p.Ala76Asp) c.494C>A (p.Ala165Asp) n.1284C>A c.416C>A (p.Ala139Asp) | dbSNP gnomAD v4 |
| 22 | g.42128891C>A | CA411773990 | CYP2D6 | c.406G>T (p.Ala136Ser) c.559G>T (p.Ala187Ser) c.226G>T (p.Ala76Ser) c.493G>T (p.Ala165Ser) n.1283G>T c.415G>T (p.Ala139Ser) | gnomAD v4 |
| 22 | g.42128891C= | CA2406579553 | CYP2D6 | c.406G= (p.Ala136=) c.559G= (p.Ala187=) c.226G= (p.Ala76=) c.493G= (p.Ala165=) n.1283G= c.415G= (p.Ala139=) | |
| 22 | g.42128891C>G | CA411773991 | CYP2D6 | c.406G>C (p.Ala136Pro) c.559G>C (p.Ala187Pro) c.226G>C (p.Ala76Pro) c.493G>C (p.Ala165Pro) n.1283G>C c.415G>C (p.Ala139Pro) | dbSNP gnomAD v4 |
| 22 | g.42128891C>T | CA411773992 | CYP2D6 | c.406G>A (p.Ala136Thr) c.559G>A (p.Ala187Thr) c.226G>A (p.Ala76Thr) c.493G>A (p.Ala165Thr) n.1283G>A c.415G>A (p.Ala139Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42128892G>A | CA10265037 | CYP2D6 | c.405C>T (p.Ile135=) c.558C>T (p.Ile186=) c.225C>T (p.Ile75=) c.492C>T (p.Ile164=) n.1282C>T c.414C>T (p.Ile138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128892G>C | CA411773993 | CYP2D6 | c.405C>G (p.Ile135Met) c.558C>G (p.Ile186Met) c.225C>G (p.Ile75Met) c.492C>G (p.Ile164Met) n.1282C>G c.414C>G (p.Ile138Met) | gnomAD v4 |
| 22 | g.42128892G= | CA2406579554 | CYP2D6 | c.405C= (p.Ile135=) c.558C= (p.Ile186=) c.225C= (p.Ile75=) c.492C= (p.Ile164=) n.1282C= c.414C= (p.Ile138=) | |
| 22 | g.42128892G>T | CA514697153 | CYP2D6 | c.405C>A (p.Ile135=) c.558C>A (p.Ile186=) c.225C>A (p.Ile75=) c.492C>A (p.Ile164=) n.1282C>A c.414C>A (p.Ile138=) | dbSNP gnomAD v4 |
| 22 | g.42128893A>C | CA411773994 | CYP2D6 | c.404T>G (p.Ile135Ser) c.557T>G (p.Ile186Ser) c.224T>G (p.Ile75Ser) c.491T>G (p.Ile164Ser) n.1281T>G c.413T>G (p.Ile138Ser) | |
| 22 | g.42128893A>G | CA411773995 | CYP2D6 | c.404T>C (p.Ile135Thr) c.557T>C (p.Ile186Thr) c.224T>C (p.Ile75Thr) c.491T>C (p.Ile164Thr) n.1281T>C c.413T>C (p.Ile138Thr) | dbSNP gnomAD v4 |
| 22 | g.42128893A>T | CA411773996 | CYP2D6 | c.404T>A (p.Ile135Asn) c.557T>A (p.Ile186Asn) c.224T>A (p.Ile75Asn) c.491T>A (p.Ile164Asn) n.1281T>A c.413T>A (p.Ile138Asn) | dbSNP |
| 22 | g.42128894T>A | CA411773997 | CYP2D6 | c.403A>T (p.Ile135Phe) c.556A>T (p.Ile186Phe) c.223A>T (p.Ile75Phe) c.490A>T (p.Ile164Phe) n.1280A>T c.412A>T (p.Ile138Phe) | dbSNP |
| 22 | g.42128894T>C | CA411773998 | CYP2D6 | c.403A>G (p.Ile135Val) c.556A>G (p.Ile186Val) c.223A>G (p.Ile75Val) c.490A>G (p.Ile164Val) n.1280A>G c.412A>G (p.Ile138Val) | dbSNP gnomAD v4 |
| 22 | g.42128894T>G | CA411773999 | CYP2D6 | c.403A>C (p.Ile135Leu) c.556A>C (p.Ile186Leu) c.223A>C (p.Ile75Leu) c.490A>C (p.Ile164Leu) n.1280A>C c.412A>C (p.Ile138Leu) | dbSNP |
| 22 | g.42128895C>A | CA514697169 | CYP2D6 | c.402G>T (p.Val134=) c.555G>T (p.Val185=) c.222G>T (p.Val74=) c.489G>T (p.Val163=) n.1279G>T c.411G>T (p.Val137=) | dbSNP gnomAD v4 |
| 22 | g.42128895C>G | CA514697172 | CYP2D6 | c.402G>C (p.Val134=) c.555G>C (p.Val185=) c.222G>C (p.Val74=) c.489G>C (p.Val163=) n.1279G>C c.411G>C (p.Val137=) | dbSNP gnomAD v4 |
| 22 | g.42128895C>T | CA514697174 | CYP2D6 | c.402G>A (p.Val134=) c.555G>A (p.Val185=) c.222G>A (p.Val74=) c.489G>A (p.Val163=) n.1279G>A c.411G>A (p.Val137=) | dbSNP |
| 22 | g.42128895_42128897del | CA2657033765 | CYP2D6 | c.400_402del (p.Val134del) c.553_555del (p.Val185del) c.220_222del (p.Val74del) c.487_489del (p.Val163del) n.1277_1279del c.409_411del (p.Val137del) | gnomAD v4 |
| 22 | g.42128896A= | CA2406579555 | CYP2D6 | c.401T= (p.Val134=) c.554T= (p.Val185=) c.221T= (p.Val74=) c.488T= (p.Val163=) n.1278T= c.410T= (p.Val137=) | |
| 22 | g.42128896A>C | CA411774001 | CYP2D6 | c.401T>G (p.Val134Gly) c.554T>G (p.Val185Gly) c.221T>G (p.Val74Gly) c.488T>G (p.Val163Gly) n.1278T>G c.410T>G (p.Val137Gly) | |
| 22 | g.42128896A>G | CA411774002 | CYP2D6 | c.401T>C (p.Val134Ala) c.554T>C (p.Val185Ala) c.221T>C (p.Val74Ala) c.488T>C (p.Val163Ala) n.1278T>C c.410T>C (p.Val137Ala) | dbSNP |
| 22 | g.42128896A>T | CA411774000 | CYP2D6 | c.401T>A (p.Val134Glu) c.554T>A (p.Val185Glu) c.221T>A (p.Val74Glu) c.488T>A (p.Val163Glu) n.1278T>A c.410T>A (p.Val137Glu) | dbSNP |
| 22 | g.42128897C>A | CA411774003 | CYP2D6 | c.400G>T (p.Val134Leu) c.553G>T (p.Val185Leu) c.220G>T (p.Val74Leu) c.487G>T (p.Val163Leu) n.1277G>T c.409G>T (p.Val137Leu) | dbSNP |
| 22 | g.42128897C= | CA2406579556 | CYP2D6 | c.400G= (p.Val134=) c.553G= (p.Val185=) c.220G= (p.Val74=) c.487G= (p.Val163=) n.1277G= c.409G= (p.Val137=) | |
| 22 | g.42128897C>G | CA10265038 | CYP2D6 | c.400G>C (p.Val134Leu) c.553G>C (p.Val185Leu) c.220G>C (p.Val74Leu) c.487G>C (p.Val163Leu) n.1277G>C c.409G>C (p.Val137Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128897C>T | CA411774004 | CYP2D6 | c.400G>A (p.Val134Met) c.553G>A (p.Val185Met) c.220G>A (p.Val74Met) c.487G>A (p.Val163Met) n.1277G>A c.409G>A (p.Val137Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128898G>A | CA10265039 | CYP2D6 | c.399C>T (p.Asn133=) c.552C>T (p.Asn184=) c.219C>T (p.Asn73=) c.486C>T (p.Asn162=) n.1276C>T c.408C>T (p.Asn136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128898G>C | CA411774005 | CYP2D6 | c.399C>G (p.Asn133Lys) c.552C>G (p.Asn184Lys) c.219C>G (p.Asn73Lys) c.486C>G (p.Asn162Lys) n.1276C>G c.408C>G (p.Asn136Lys) | dbSNP gnomAD v4 |
| 22 | g.42128898G= | CA2406579557 | CYP2D6 | c.399C= (p.Asn133=) c.552C= (p.Asn184=) c.219C= (p.Asn73=) c.486C= (p.Asn162=) n.1276C= c.408C= (p.Asn136=) | |
| 22 | g.42128898G>T | CA411774006 | CYP2D6 | c.399C>A (p.Asn133Lys) c.552C>A (p.Asn184Lys) c.219C>A (p.Asn73Lys) c.486C>A (p.Asn162Lys) n.1276C>A c.408C>A (p.Asn136Lys) | dbSNP |