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 |
|---|---|---|---|---|---|
| 2 | g.38071065T>A | CA346327463 | CYP1B1 | c.1289A>T (p.Asp430Val) n.667A>T c.176A>T (p.Asp59Val) | dbSNP |
| 2 | g.38071065T>C | CA346327464 | CYP1B1 | c.1289A>G (p.Asp430Gly) n.667A>G c.176A>G (p.Asp59Gly) | |
| 2 | g.38071065T>G | CA346327462 | CYP1B1 | c.1289A>C (p.Asp430Ala) n.667A>C c.176A>C (p.Asp59Ala) | |
| 2 | g.38071066C>A | CA346327467 | CYP1B1 | c.1288G>T (p.Asp430Tyr) n.666G>T c.175G>T (p.Asp59Tyr) | |
| 2 | g.38071066C>G | CA346327465 | CYP1B1 | c.1288G>C (p.Asp430His) n.666G>C c.175G>C (p.Asp59His) | |
| 2 | g.38071066C>T | CA346327466 | CYP1B1 | c.1288G>A (p.Asp430Asn) n.666G>A c.175G>A (p.Asp59Asn) | |
| 2 | g.38071067A>C | CA346327468 | CYP1B1 | c.1287T>G (p.His429Gln) n.665T>G c.174T>G (p.His58Gln) | |
| 2 | g.38071067A>G | CA425864500 | CYP1B1 | c.1287T>C (p.His429=) n.665T>C c.174T>C (p.His58=) | gnomAD v4 |
| 2 | g.38071067A>T | CA346327469 | CYP1B1 | c.1287T>A (p.His429Gln) n.665T>A c.174T>A (p.His58Gln) | |
| 2 | g.38071068T>A | CA346327470 | CYP1B1 | c.1286A>T (p.His429Leu) n.664A>T c.173A>T (p.His58Leu) | |
| 2 | g.38071068T>C | CA346327471 | CYP1B1 | c.1286A>G (p.His429Arg) n.664A>G c.173A>G (p.His58Arg) | gnomAD v4 |
| 2 | g.38071068T>G | CA346327472 | CYP1B1 | c.1286A>C (p.His429Pro) n.664A>C c.173A>C (p.His58Pro) | dbSNP |
| 2 | g.38071068T= | CA1245626105 | CYP1B1 | c.1286A= (p.His429=) n.664A= c.173A= (p.His58=) | |
| 2 | g.38071069G>A | CA1619824 | CYP1B1 | c.1285C>T (p.His429Tyr) n.663C>T c.172C>T (p.His58Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071069G>C | CA346327473 | CYP1B1 | c.1285C>G (p.His429Asp) n.663C>G c.172C>G (p.His58Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.38071069G= | CA1245626106 | CYP1B1 | c.1285C= (p.His429=) n.663C= c.172C= (p.His58=) | |
| 2 | g.38071069G>T | CA346327474 | CYP1B1 | c.1285C>A (p.His429Asn) n.663C>A c.172C>A (p.His58Asn) | |
| 2 | g.38071070A>C | CA346327475 | CYP1B1 | c.1284T>G (p.Asn428Lys) n.662T>G c.171T>G (p.Asn57Lys) | |
| 2 | g.38071070A>G | CA425864504 | CYP1B1 | c.1284T>C (p.Asn428=) n.662T>C c.171T>C (p.Asn57=) | |
| 2 | g.38071070A>T | CA346327476 | CYP1B1 | c.1284T>A (p.Asn428Lys) n.662T>A c.171T>A (p.Asn57Lys) | |
| 2 | g.38071071T>A | CA346327479 | CYP1B1 | c.1283A>T (p.Asn428Ile) n.661A>T c.170A>T (p.Asn57Ile) | |
| 2 | g.38071071T>C | CA346327478 | CYP1B1 | c.1283A>G (p.Asn428Ser) n.661A>G c.170A>G (p.Asn57Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071071T>G | CA346327477 | CYP1B1 | c.1283A>C (p.Asn428Thr) n.661A>C c.170A>C (p.Asn57Thr) | |
| 2 | g.38071071T= | CA1245626107 | CYP1B1 | c.1283A= (p.Asn428=) n.661A= c.170A= (p.Asn57=) | |
| 2 | g.38071072T>A | CA346327480 | CYP1B1 | c.1282A>T (p.Asn428Tyr) n.660A>T c.169A>T (p.Asn57Tyr) | |
| 2 | g.38071072T>C | CA346327481 | CYP1B1 | c.1282A>G (p.Asn428Asp) n.660A>G c.169A>G (p.Asn57Asp) | gnomAD v4 |
| 2 | g.38071072T>G | CA346327482 | CYP1B1 | c.1282A>C (p.Asn428His) n.660A>C c.169A>C (p.Asn57His) | |
| 2 | g.38071073C>A | CA425864509 | CYP1B1 | c.1281G>T (p.Val427=) n.659G>T c.168G>T (p.Val56=) | |
| 2 | g.38071073C>G | CA425864505 | CYP1B1 | c.1281G>C (p.Val427=) n.659G>C c.168G>C (p.Val56=) | |
| 2 | g.38071073C>T | CA425864507 | CYP1B1 | c.1281G>A (p.Val427=) n.659G>A c.168G>A (p.Val56=) | |
| 2 | g.38071074A>C | CA346327483 | CYP1B1 | c.1280T>G (p.Val427Gly) n.658T>G c.167T>G (p.Val56Gly) | |
| 2 | g.38071074A>G | CA346327484 | CYP1B1 | c.1280T>C (p.Val427Ala) n.658T>C c.167T>C (p.Val56Ala) | |
| 2 | g.38071074A>T | CA346327485 | CYP1B1 | c.1280T>A (p.Val427Glu) n.658T>A c.167T>A (p.Val56Glu) | |
| 2 | g.38071075C>A | CA346327486 | CYP1B1 | c.1279G>T (p.Val427Leu) n.657G>T c.166G>T (p.Val56Leu) | |
| 2 | g.38071075C>G | CA346327487 | CYP1B1 | c.1279G>C (p.Val427Leu) n.657G>C c.166G>C (p.Val56Leu) | dbSNP |
| 2 | g.38071075C>T | CA346327488 | CYP1B1 | c.1279G>A (p.Val427Met) n.657G>A c.166G>A (p.Val56Met) | dbSNP |
| 2 | g.38071076A= | CA1245626108 | CYP1B1 | c.1278T= (p.Ser426=) n.656T= c.165T= (p.Ser55=) | |
| 2 | g.38071076A>C | CA45506328 | CYP1B1 | c.1278T>G (p.Ser426=) n.656T>G c.165T>G (p.Ser55=) | ClinVar dbSNP |
| 2 | g.38071076A>G | CA425864511 | CYP1B1 | c.1278T>C (p.Ser426=) n.656T>C c.165T>C (p.Ser55=) | |
| 2 | g.38071076A>T | CA425864510 | CYP1B1 | c.1278T>A (p.Ser426=) n.656T>A c.165T>A (p.Ser55=) | |
| 2 | g.38071077G>A | CA346327489 | CYP1B1 | c.1277C>T (p.Ser426Phe) n.655C>T c.164C>T (p.Ser55Phe) | |
| 2 | g.38071077G>C | CA346327490 | CYP1B1 | c.1277C>G (p.Ser426Cys) n.655C>G c.164C>G (p.Ser55Cys) | |
| 2 | g.38071077G>T | CA346327491 | CYP1B1 | c.1277C>A (p.Ser426Tyr) n.655C>A c.164C>A (p.Ser55Tyr) | |
| 2 | g.38071078A>C | CA346327494 | CYP1B1 | c.1276T>G (p.Ser426Ala) n.654T>G c.163T>G (p.Ser55Ala) | |
| 2 | g.38071078A>G | CA346327493 | CYP1B1 | c.1276T>C (p.Ser426Pro) n.654T>C c.163T>C (p.Ser55Pro) | |
| 2 | g.38071078A>T | CA346327492 | CYP1B1 | c.1276T>A (p.Ser426Thr) n.654T>A c.163T>A (p.Ser55Thr) | |
| 2 | g.38071079C>A | CA346327495 | CYP1B1 | c.1275G>T (p.Trp425Cys) n.653G>T c.162G>T (p.Trp54Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.38071079C= | CA1245626109 | CYP1B1 | c.1275G= (p.Trp425=) n.653G= c.162G= (p.Trp54=) | |
| 2 | g.38071079C>G | CA346327496 | CYP1B1 | c.1275G>C (p.Trp425Cys) n.653G>C c.162G>C (p.Trp54Cys) | gnomAD v4 |
| 2 | g.38071079C>T | CA346327497 | CYP1B1 | c.1275G>A (p.Trp425Ter) n.653G>A c.162G>A (p.Trp54Ter) |