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.38071138T>A | CA346327621 | CYP1B1 | c.1216A>T (p.Asn406Tyr) n.594A>T c.103A>T (p.Asn35Tyr) | |
| 2 | g.38071138T>C | CA346327623 | CYP1B1 | c.1216A>G (p.Asn406Asp) n.594A>G c.103A>G (p.Asn35Asp) | |
| 2 | g.38071138T>G | CA346327622 | CYP1B1 | c.1216A>C (p.Asn406His) n.594A>C c.103A>C (p.Asn35His) | dbSNP |
| 2 | g.38071139G>A | CA425864569 | CYP1B1 | c.1215C>T (p.Ala405=) n.593C>T c.102C>T (p.Ala34=) | |
| 2 | g.38071139G>C | CA425864566 | CYP1B1 | c.1215C>G (p.Ala405=) n.593C>G c.102C>G (p.Ala34=) | |
| 2 | g.38071139G>T | CA425864567 | CYP1B1 | c.1215C>A (p.Ala405=) n.593C>A c.102C>A (p.Ala34=) | gnomAD v4 |
| 2 | g.38071140G>A | CA1619836 | CYP1B1 | c.1214C>T (p.Ala405Val) n.592C>T c.101C>T (p.Ala34Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071140G>C | CA346327624 | CYP1B1 | c.1214C>G (p.Ala405Gly) n.592C>G c.101C>G (p.Ala34Gly) | |
| 2 | g.38071140G= | CA1245626139 | CYP1B1 | c.1214C= (p.Ala405=) n.592C= c.101C= (p.Ala34=) | |
| 2 | g.38071140G>T | CA346327625 | CYP1B1 | c.1214C>A (p.Ala405Asp) n.592C>A c.101C>A (p.Ala34Asp) | |
| 2 | g.38071141C>A | CA346327626 | CYP1B1 | c.1213G>T (p.Ala405Ser) n.591G>T c.100G>T (p.Ala34Ser) | |
| 2 | g.38071141C= | CA1245626140 | CYP1B1 | c.1213G= (p.Ala405=) n.591G= c.100G= (p.Ala34=) | |
| 2 | g.38071141C>G | CA346327627 | CYP1B1 | c.1213G>C (p.Ala405Pro) n.591G>C c.100G>C (p.Ala34Pro) | |
| 2 | g.38071141C>T | CA1619837 | CYP1B1 | c.1213G>A (p.Ala405Thr) n.591G>A c.100G>A (p.Ala34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071142A>C | CA425864571 | CYP1B1 | c.1212T>G (p.Thr404=) n.590T>G c.99T>G (p.Thr33=) | |
| 2 | g.38071142A>G | CA425864572 | CYP1B1 | c.1212T>C (p.Thr404=) n.590T>C c.99T>C (p.Thr33=) | ClinVar |
| 2 | g.38071142A>T | CA425864573 | CYP1B1 | c.1212T>A (p.Thr404=) n.590T>A c.99T>A (p.Thr33=) | |
| 2 | g.38071143G>A | CA346327628 | CYP1B1 | c.1211C>T (p.Thr404Ile) n.589C>T c.98C>T (p.Thr33Ile) | dbSNP |
| 2 | g.38071143G>C | CA346327629 | CYP1B1 | c.1211C>G (p.Thr404Ser) n.589C>G c.98C>G (p.Thr33Ser) | |
| 2 | g.38071143G= | CA1245626141 | CYP1B1 | c.1211C= (p.Thr404=) n.589C= c.98C= (p.Thr33=) | |
| 2 | g.38071143G>T | CA346327630 | CYP1B1 | c.1211C>A (p.Thr404Asn) n.589C>A c.98C>A (p.Thr33Asn) | |
| 2 | g.38071144_38071145del | CA2658667729 | CYP1B1 | c.1210_1211del (p.Thr404CysfsTer26) n.588_589del c.97_98del (p.Thr33CysfsTer26) | gnomAD v4 |
| 2 | g.38071144_38071153dup | CA2586969066 | CYP1B1 | c.1202_1211dup (p.Ala405CysfsTer29) n.580_589dup c.89_98dup (p.Ala34CysfsTer29) | |
| 2 | g.38071144T>A | CA346327631 | CYP1B1 | c.1210A>T (p.Thr404Ser) n.588A>T c.97A>T (p.Thr33Ser) | dbSNP gnomAD v2 |
| 2 | g.38071144T>C | CA346327632 | CYP1B1 | c.1210A>G (p.Thr404Ala) n.588A>G c.97A>G (p.Thr33Ala) | |
| 2 | g.38071144T>G | CA346327633 | CYP1B1 | c.1210A>C (p.Thr404Pro) n.588A>C c.97A>C (p.Thr33Pro) | |
| 2 | g.38071144T= | CA1245626143 | CYP1B1 | c.1210A= (p.Thr404=) n.588A= c.97A= (p.Thr33=) | |
| 2 | g.38071144dup | CA768462386 | CYP1B1 | c.1210dup (p.Thr404AsnfsTer27) n.588dup c.97dup (p.Thr33AsnfsTer27) | dbSNP |
| 2 | g.38071144_38071154delinsTGGTGGCATGA | CA1245626142 | CYP1B1 | c.1200_1210delinsTCATGCCACCA (p.Pro400=) n.578_588delinsTCATGCCACCA c.87_97delinsTCATGCCACCA (p.Pro29=) | |
| 2 | g.38071145G>A | CA425864574 | CYP1B1 | c.1209C>T (p.Thr403=) n.587C>T c.96C>T (p.Thr32=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.38071145G>C | CA425864576 | CYP1B1 | c.1209C>G (p.Thr403=) n.587C>G c.96C>G (p.Thr32=) | |
| 2 | g.38071145G= | CA1245626144 | CYP1B1 | c.1209C= (p.Thr403=) n.587C= c.96C= (p.Thr32=) | |
| 2 | g.38071145G>T | CA425864578 | CYP1B1 | c.1209C>A (p.Thr403=) n.587C>A c.96C>A (p.Thr32=) | |
| 2 | g.38071147_38071156dup | CA145181 | CYP1B1 | c.1200_1209dup (p.Thr404SerfsTer30) n.578_587dup c.87_96dup (p.Thr33SerfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.38071145_38071156dup | CA2586969067 | CYP1B1 | c.1198_1209dup (p.Thr403_Thr404insProHisAlaThr) n.576_587dup c.85_96dup (p.Thr32_Thr33insProHisAlaThr) | |
| 2 | g.38071147_38071156del | CA45506498 | CYP1B1 | c.1200_1209del (p.His401LeufsTer24) n.578_587del c.87_96del (p.His30LeufsTer24) | dbSNP |
| 2 | g.38071146G>A | CA346327635 | CYP1B1 | c.1208C>T (p.Thr403Ile) n.586C>T c.95C>T (p.Thr32Ile) | dbSNP |
| 2 | g.38071146G>C | CA346327634 | CYP1B1 | c.1208C>G (p.Thr403Ser) n.586C>G c.95C>G (p.Thr32Ser) | |
| 2 | g.38071146G= | CA1245626145 | CYP1B1 | c.1208C= (p.Thr403=) n.586C= c.95C= (p.Thr32=) | |
| 2 | g.38071146G>T | CA346327636 | CYP1B1 | c.1208C>A (p.Thr403Asn) n.586C>A c.95C>A (p.Thr32Asn) | |
| 2 | g.38071147T>A | CA346327637 | CYP1B1 | c.1207A>T (p.Thr403Ser) n.585A>T c.94A>T (p.Thr32Ser) | |
| 2 | g.38071147T>C | CA346327638 | CYP1B1 | c.1207A>G (p.Thr403Ala) n.585A>G c.94A>G (p.Thr32Ala) | |
| 2 | g.38071147T>G | CA346327639 | CYP1B1 | c.1207A>C (p.Thr403Pro) n.585A>C c.94A>C (p.Thr32Pro) | |
| 2 | g.38071148G>A | CA425864581 | CYP1B1 | c.1206C>T (p.Ala402=) n.584C>T c.93C>T (p.Ala31=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.38071148G>C | CA425864582 | CYP1B1 | c.1206C>G (p.Ala402=) n.584C>G c.93C>G (p.Ala31=) | |
| 2 | g.38071148G= | CA1245626146 | CYP1B1 | c.1206C= (p.Ala402=) n.584C= c.93C= (p.Ala31=) | |
| 2 | g.38071148G>T | CA425864583 | CYP1B1 | c.1206C>A (p.Ala402=) n.584C>A c.93C>A (p.Ala31=) | |
| 2 | g.38071149G>A | CA346327640 | CYP1B1 | c.1205C>T (p.Ala402Val) n.583C>T c.92C>T (p.Ala31Val) | dbSNP gnomAD v2 |
| 2 | g.38071149G>C | CA346327641 | CYP1B1 | c.1205C>G (p.Ala402Gly) n.583C>G c.92C>G (p.Ala31Gly) | |
| 2 | g.38071149G= | CA1245626147 | CYP1B1 | c.1205C= (p.Ala402=) n.583C= c.92C= (p.Ala31=) |