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.42128176_42128179delinsTCTC | CA2406578979 | CYP2D6 | c.685_688delinsGAGA (p.Glu229=) c.838_841delinsGAGA (p.Glu280=) c.505_508delinsGAGA (p.Glu169=) c.772_775delinsGAGA (p.Glu258=) n.1562_1565delinsGAGA c.694_697delinsGAGA (p.Glu232=) | |
| 22 | g.42128178_42128180del | CA10264850 | CYP2D6 | c.685_687del (p.Glu229del) c.838_840del (p.Glu280del) c.505_507del (p.Glu169del) c.772_774del (p.Glu258del) n.1562_1564del c.694_696del (p.Glu232del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128179C>A | CA411773008 | CYP2D6 | c.685G>T (p.Glu229Ter) c.838G>T (p.Glu280Ter) c.505G>T (p.Glu169Ter) c.772G>T (p.Glu258Ter) n.1562G>T c.694G>T (p.Glu232Ter) | |
| 22 | g.42128179C>G | CA411773009 | CYP2D6 | c.685G>C (p.Glu229Gln) c.838G>C (p.Glu280Gln) c.505G>C (p.Glu169Gln) c.772G>C (p.Glu258Gln) n.1562G>C c.694G>C (p.Glu232Gln) | |
| 22 | g.42128179C>T | CA411773011 | CYP2D6 | c.685G>A (p.Glu229Lys) c.838G>A (p.Glu280Lys) c.505G>A (p.Glu169Lys) c.772G>A (p.Glu258Lys) n.1562G>A c.694G>A (p.Glu232Lys) | |
| 22 | g.42128180C>A | CA411773012 | CYP2D6 | c.684G>T (p.Met228Ile) c.837G>T (p.Met279Ile) c.504G>T (p.Met168Ile) c.771G>T (p.Met257Ile) n.1561G>T c.693G>T (p.Met231Ile) | |
| 22 | g.42128180C= | CA2406578982 | CYP2D6 | c.684G= (p.Met228=) c.837G= (p.Met279=) c.504G= (p.Met168=) c.771G= (p.Met257=) n.1561G= c.693G= (p.Met231=) | |
| 22 | g.42128180C>G | CA411773014 | CYP2D6 | c.684G>C (p.Met228Ile) c.837G>C (p.Met279Ile) c.504G>C (p.Met168Ile) c.771G>C (p.Met257Ile) n.1561G>C c.693G>C (p.Met231Ile) | |
| 22 | g.42128180C>T | CA10264851 | CYP2D6 | c.684G>A (p.Met228Ile) c.837G>A (p.Met279Ile) c.504G>A (p.Met168Ile) c.771G>A (p.Met257Ile) n.1561G>A c.693G>A (p.Met231Ile) | dbSNP ExAC |
| 22 | g.42128181A= | CA2406578983 | CYP2D6 | c.683T= (p.Met228=) c.836T= (p.Met279=) c.503T= (p.Met168=) c.770T= (p.Met257=) n.1560T= c.692T= (p.Met231=) | |
| 22 | g.42128181A>C | CA411773017 | CYP2D6 | c.683T>G (p.Met228Arg) c.836T>G (p.Met279Arg) c.503T>G (p.Met168Arg) c.770T>G (p.Met257Arg) n.1560T>G c.692T>G (p.Met231Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128181A>G | CA411773020 | CYP2D6 | c.683T>C (p.Met228Thr) c.836T>C (p.Met279Thr) c.503T>C (p.Met168Thr) c.770T>C (p.Met257Thr) n.1560T>C c.692T>C (p.Met231Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128181A>T | CA10264852 | CYP2D6 | c.683T>A (p.Met228Lys) c.836T>A (p.Met279Lys) c.503T>A (p.Met168Lys) c.770T>A (p.Met257Lys) n.1560T>A c.692T>A (p.Met231Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128182T>A | CA411773023 | CYP2D6 | c.682A>T (p.Met228Leu) c.835A>T (p.Met279Leu) c.502A>T (p.Met168Leu) c.769A>T (p.Met257Leu) n.1559A>T c.691A>T (p.Met231Leu) | |
| 22 | g.42128182T>C | CA411773026 | CYP2D6 | c.682A>G (p.Met228Val) c.835A>G (p.Met279Val) c.502A>G (p.Met168Val) c.769A>G (p.Met257Val) n.1559A>G c.691A>G (p.Met231Val) | |
| 22 | g.42128182T>G | CA411773025 | CYP2D6 | c.682A>C (p.Met228Leu) c.835A>C (p.Met279Leu) c.502A>C (p.Met168Leu) c.769A>C (p.Met257Leu) n.1559A>C c.691A>C (p.Met231Leu) | |
| 22 | g.42128183C>A | CA10264853 | CYP2D6 | c.681G>T (p.Glu227Asp) c.834G>T (p.Glu278Asp) c.501G>T (p.Glu167Asp) c.768G>T (p.Glu256Asp) n.1558G>T c.690G>T (p.Glu230Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128183C= | CA2406578984 | CYP2D6 | c.681G= (p.Glu227=) c.834G= (p.Glu278=) c.501G= (p.Glu167=) c.768G= (p.Glu256=) n.1558G= c.690G= (p.Glu230=) | |
| 22 | g.42128183C>G | CA411773029 | CYP2D6 | c.681G>C (p.Glu227Asp) c.834G>C (p.Glu278Asp) c.501G>C (p.Glu167Asp) c.768G>C (p.Glu256Asp) n.1558G>C c.690G>C (p.Glu230Asp) | gnomAD v4 |
| 22 | g.42128183C>T | CA514800262 | CYP2D6 | c.681G>A (p.Glu227=) c.834G>A (p.Glu278=) c.501G>A (p.Glu167=) c.768G>A (p.Glu256=) n.1558G>A c.690G>A (p.Glu230=) | gnomAD v4 |
| 22 | g.42128184T>A | CA411773032 | CYP2D6 | c.680A>T (p.Glu227Val) c.833A>T (p.Glu278Val) c.500A>T (p.Glu167Val) c.767A>T (p.Glu256Val) n.1557A>T c.689A>T (p.Glu230Val) | |
| 22 | g.42128184T>C | CA411773034 | CYP2D6 | c.680A>G (p.Glu227Gly) c.833A>G (p.Glu278Gly) c.500A>G (p.Glu167Gly) c.767A>G (p.Glu256Gly) n.1557A>G c.689A>G (p.Glu230Gly) | gnomAD v4 |
| 22 | g.42128184T>G | CA411773035 | CYP2D6 | c.680A>C (p.Glu227Ala) c.833A>C (p.Glu278Ala) c.500A>C (p.Glu167Ala) c.767A>C (p.Glu256Ala) n.1557A>C c.689A>C (p.Glu230Ala) | gnomAD v4 |
| 22 | g.42128185C>A | CA411773038 | CYP2D6 | c.679G>T (p.Glu227Ter) c.832G>T (p.Glu278Ter) c.499G>T (p.Glu167Ter) c.766G>T (p.Glu256Ter) n.1556G>T c.688G>T (p.Glu230Ter) | |
| 22 | g.42128185C= | CA2406578985 | CYP2D6 | c.679G= (p.Glu227=) c.832G= (p.Glu278=) c.499G= (p.Glu167=) c.766G= (p.Glu256=) n.1556G= c.688G= (p.Glu230=) | |
| 22 | g.42128185C>G | CA411773040 | CYP2D6 | c.679G>C (p.Glu227Gln) c.832G>C (p.Glu278Gln) c.499G>C (p.Glu167Gln) c.766G>C (p.Glu256Gln) n.1556G>C c.688G>C (p.Glu230Gln) | |
| 22 | g.42128185C>T | CA10264854 | CYP2D6 | c.679G>A (p.Glu227Lys) c.832G>A (p.Glu278Lys) c.499G>A (p.Glu167Lys) c.766G>A (p.Glu256Lys) n.1556G>A c.688G>A (p.Glu230Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128186T>A | CA514800263 | CYP2D6 | c.678A>T (p.Ala226=) c.831A>T (p.Ala277=) c.498A>T (p.Ala166=) c.765A>T (p.Ala255=) n.1555A>T c.687A>T (p.Ala229=) | |
| 22 | g.42128186T>C | CA514800264 | CYP2D6 | c.678A>G (p.Ala226=) c.831A>G (p.Ala277=) c.498A>G (p.Ala166=) c.765A>G (p.Ala255=) n.1555A>G c.687A>G (p.Ala229=) | |
| 22 | g.42128186T>G | CA10264855 | CYP2D6 | c.678A>C (p.Ala226=) c.831A>C (p.Ala277=) c.498A>C (p.Ala166=) c.765A>C (p.Ala255=) n.1555A>C c.687A>C (p.Ala229=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42128186T= | CA2406578986 | CYP2D6 | c.678A= (p.Ala226=) c.831A= (p.Ala277=) c.498A= (p.Ala166=) c.765A= (p.Ala255=) n.1555A= c.687A= (p.Ala229=) | |
| 22 | g.42128187G>A | CA411773045 | CYP2D6 | c.677C>T (p.Ala226Val) c.830C>T (p.Ala277Val) c.497C>T (p.Ala166Val) c.764C>T (p.Ala255Val) n.1554C>T c.686C>T (p.Ala229Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42128187G>C | CA411773047 | CYP2D6 | c.677C>G (p.Ala226Gly) c.830C>G (p.Ala277Gly) c.497C>G (p.Ala166Gly) c.764C>G (p.Ala255Gly) n.1554C>G c.686C>G (p.Ala229Gly) | gnomAD v4 |
| 22 | g.42128187G= | CA2406578987 | CYP2D6 | c.677C= (p.Ala226=) c.830C= (p.Ala277=) c.497C= (p.Ala166=) c.764C= (p.Ala255=) n.1554C= c.686C= (p.Ala229=) | |
| 22 | g.42128187G>T | CA411773043 | CYP2D6 | c.677C>A (p.Ala226Glu) c.830C>A (p.Ala277Glu) c.497C>A (p.Ala166Glu) c.764C>A (p.Ala255Glu) n.1554C>A c.686C>A (p.Ala229Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128188C>A | CA411773049 | CYP2D6 | c.676G>T (p.Ala226Ser) c.829G>T (p.Ala277Ser) c.496G>T (p.Ala166Ser) c.763G>T (p.Ala255Ser) n.1553G>T c.685G>T (p.Ala229Ser) | |
| 22 | g.42128188C= | CA2406578988 | CYP2D6 | c.676G= (p.Ala226=) c.829G= (p.Ala277=) c.496G= (p.Ala166=) c.763G= (p.Ala255=) n.1553G= c.685G= (p.Ala229=) | |
| 22 | g.42128188C>G | CA411773051 | CYP2D6 | c.676G>C (p.Ala226Pro) c.829G>C (p.Ala277Pro) c.496G>C (p.Ala166Pro) c.763G>C (p.Ala255Pro) n.1553G>C c.685G>C (p.Ala229Pro) | |
| 22 | g.42128188C>T | CA411773053 | CYP2D6 | c.676G>A (p.Ala226Thr) c.829G>A (p.Ala277Thr) c.496G>A (p.Ala166Thr) c.763G>A (p.Ala255Thr) n.1553G>A c.685G>A (p.Ala229Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128189C>A | CA10264856 | CYP2D6 | c.675G>T (p.Leu225=) c.828G>T (p.Leu276=) c.495G>T (p.Leu165=) c.762G>T (p.Leu254=) n.1552G>T c.684G>T (p.Leu228=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42128189C= | CA2406578989 | CYP2D6 | c.675G= (p.Leu225=) c.828G= (p.Leu276=) c.495G= (p.Leu165=) c.762G= (p.Leu254=) n.1552G= c.684G= (p.Leu228=) | |
| 22 | g.42128189C>G | CA514800265 | CYP2D6 | c.675G>C (p.Leu225=) c.828G>C (p.Leu276=) c.495G>C (p.Leu165=) c.762G>C (p.Leu254=) n.1552G>C c.684G>C (p.Leu228=) | |
| 22 | g.42128189C>T | CA514800266 | CYP2D6 | c.675G>A (p.Leu225=) c.828G>A (p.Leu276=) c.495G>A (p.Leu165=) c.762G>A (p.Leu254=) n.1552G>A c.684G>A (p.Leu228=) | |
| 22 | g.42128190A= | CA2406578990 | CYP2D6 | c.674T= (p.Leu225=) c.827T= (p.Leu276=) c.494T= (p.Leu165=) c.761T= (p.Leu254=) n.1551T= c.683T= (p.Leu228=) | |
| 22 | g.42128190A>C | CA411773055 | CYP2D6 | c.674T>G (p.Leu225Arg) c.827T>G (p.Leu276Arg) c.494T>G (p.Leu165Arg) c.761T>G (p.Leu254Arg) n.1551T>G c.683T>G (p.Leu228Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42128190A>G | CA411773057 | CYP2D6 | c.674T>C (p.Leu225Pro) c.827T>C (p.Leu276Pro) c.494T>C (p.Leu165Pro) c.761T>C (p.Leu254Pro) n.1551T>C c.683T>C (p.Leu228Pro) | |
| 22 | g.42128190A>T | CA411773059 | CYP2D6 | c.674T>A (p.Leu225Gln) c.827T>A (p.Leu276Gln) c.494T>A (p.Leu165Gln) c.761T>A (p.Leu254Gln) n.1551T>A c.683T>A (p.Leu228Gln) | |
| 22 | g.42128191G>A | CA514800267 | CYP2D6 | c.673C>T (p.Leu225=) c.826C>T (p.Leu276=) c.493C>T (p.Leu165=) c.760C>T (p.Leu254=) n.1550C>T c.682C>T (p.Leu228=) | dbSNP gnomAD v2 |
| 22 | g.42128191G>C | CA411773061 | CYP2D6 | c.673C>G (p.Leu225Val) c.826C>G (p.Leu276Val) c.493C>G (p.Leu165Val) c.760C>G (p.Leu254Val) n.1550C>G c.682C>G (p.Leu228Val) | |
| 22 | g.42128191G= | CA2406578991 | CYP2D6 | c.673C= (p.Leu225=) c.826C= (p.Leu276=) c.493C= (p.Leu165=) c.760C= (p.Leu254=) n.1550C= c.682C= (p.Leu228=) |