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 |
|---|---|---|---|---|---|
| 6 | g.18139007C>A | CA362835574 | TPMT | c.450G>T (p.Trp150Cys) c.381G>T (p.Trp127Cys) | |
| 6 | g.18139007C>G | CA362835577 | TPMT | c.450G>C (p.Trp150Cys) c.381G>C (p.Trp127Cys) | |
| 6 | g.18139007C>T | CA362835580 | TPMT | c.450G>A (p.Trp150Ter) c.381G>A (p.Trp127Ter) | |
| 6 | g.18139008C>A | CA362835586 | TPMT | c.449G>T (p.Trp150Leu) c.380G>T (p.Trp127Leu) | gnomAD v4 |
| 6 | g.18139008C= | CA1613557653 | TPMT | c.449G= (p.Trp150=) c.380G= (p.Trp127=) | |
| 6 | g.18139008C>G | CA362835585 | TPMT | c.449G>C (p.Trp150Ser) c.380G>C (p.Trp127Ser) | |
| 6 | g.18139008C>T | CA134966057 | TPMT | c.449G>A (p.Trp150Ter) c.380G>A (p.Trp127Ter) | dbSNP gnomAD v4 |
| 6 | g.18139009A= | CA1613557656 | TPMT | c.448T= (p.Trp150=) c.379T= (p.Trp127=) | |
| 6 | g.18139009A>C | CA362835589 | TPMT | c.448T>G (p.Trp150Gly) c.379T>G (p.Trp127Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18139009A>G | CA362835599 | TPMT | c.448T>C (p.Trp150Arg) c.379T>C (p.Trp127Arg) | |
| 6 | g.18139009A>T | CA362835596 | TPMT | c.448T>A (p.Trp150Arg) c.379T>A (p.Trp127Arg) | |
| 6 | g.18139011del | CA2578538837 | TPMT | c.448del (p.Trp150GlyfsTer6) c.379del (p.Trp127GlyfsTer6) | gnomAD v4 |
| 6 | g.18139010A>C | CA362835601 | TPMT | c.447T>G (p.Ile149Met) c.378T>G (p.Ile126Met) | |
| 6 | g.18139010A>G | CA448765252 | TPMT | c.447T>C (p.Ile149=) c.378T>C (p.Ile126=) | |
| 6 | g.18139010A>T | CA448765253 | TPMT | c.447T>A (p.Ile149=) c.378T>A (p.Ile126=) | |
| 6 | g.18139011A= | CA1613557657 | TPMT | c.446T= (p.Ile149=) c.377T= (p.Ile126=) | |
| 6 | g.18139011A>C | CA362835603 | TPMT | c.446T>G (p.Ile149Ser) c.377T>G (p.Ile126Ser) | |
| 6 | g.18139011A>G | CA362835604 | TPMT | c.446T>C (p.Ile149Thr) c.377T>C (p.Ile126Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18139011A>T | CA362835605 | TPMT | c.446T>A (p.Ile149Asn) c.377T>A (p.Ile126Asn) | |
| 6 | g.18139012T>A | CA362835606 | TPMT | c.445A>T (p.Ile149Phe) c.376A>T (p.Ile126Phe) | |
| 6 | g.18139012T>C | CA362835608 | TPMT | c.445A>G (p.Ile149Val) c.376A>G (p.Ile126Val) | |
| 6 | g.18139012T>G | CA362835610 | TPMT | c.445A>C (p.Ile149Leu) c.376A>C (p.Ile126Leu) | |
| 6 | g.18139013C>A | CA362835614 | TPMT | c.444G>T (p.Met148Ile) c.375G>T (p.Met125Ile) | |
| 6 | g.18139013C>G | CA362835624 | TPMT | c.444G>C (p.Met148Ile) c.375G>C (p.Met125Ile) | |
| 6 | g.18139013C>T | CA362835628 | TPMT | c.444G>A (p.Met148Ile) c.375G>A (p.Met125Ile) | |
| 6 | g.18139014A>C | CA362835629 | TPMT | c.443T>G (p.Met148Arg) c.374T>G (p.Met125Arg) | |
| 6 | g.18139014A>G | CA362835630 | TPMT | c.443T>C (p.Met148Thr) c.374T>C (p.Met125Thr) | |
| 6 | g.18139014A>T | CA362835631 | TPMT | c.443T>A (p.Met148Lys) c.374T>A (p.Met125Lys) | |
| 6 | g.18139015T>A | CA362835638 | TPMT | c.442A>T (p.Met148Leu) c.373A>T (p.Met125Leu) | |
| 6 | g.18139015T>C | CA362835637 | TPMT | c.442A>G (p.Met148Val) c.373A>G (p.Met125Val) | gnomAD v4 |
| 6 | g.18139015T>G | CA362835633 | TPMT | c.442A>C (p.Met148Leu) c.373A>C (p.Met125Leu) | |
| 6 | g.18139016G>A | CA448765254 | TPMT | c.441C>T (p.Asp147=) c.372C>T (p.Asp124=) | |
| 6 | g.18139016G>C | CA362835641 | TPMT | c.441C>G (p.Asp147Glu) c.372C>G (p.Asp124Glu) | |
| 6 | g.18139016G>T | CA362835643 | TPMT | c.441C>A (p.Asp147Glu) c.372C>A (p.Asp124Glu) | |
| 6 | g.18139017T>A | CA362835645 | TPMT | c.440A>T (p.Asp147Val) c.371A>T (p.Asp124Val) | |
| 6 | g.18139017T>C | CA362835647 | TPMT | c.440A>G (p.Asp147Gly) c.371A>G (p.Asp124Gly) | gnomAD v4 |
| 6 | g.18139017T>G | CA362835649 | TPMT | c.440A>C (p.Asp147Ala) c.371A>C (p.Asp124Ala) | |
| 6 | g.18139018C>A | CA362835650 | TPMT | c.439G>T (p.Asp147Tyr) c.370G>T (p.Asp124Tyr) | |
| 6 | g.18139018C>G | CA362835653 | TPMT | c.439G>C (p.Asp147His) c.370G>C (p.Asp124His) | |
| 6 | g.18139018C>T | CA362835657 | TPMT | c.439G>A (p.Asp147Asn) c.370G>A (p.Asp124Asn) | |
| 6 | g.18139019A>C | CA362835660 | TPMT | c.438T>G (p.Phe146Leu) c.369T>G (p.Phe123Leu) | |
| 6 | g.18139019A>G | CA448765255 | TPMT | c.438T>C (p.Phe146=) c.369T>C (p.Phe123=) | |
| 6 | g.18139019A>T | CA362835662 | TPMT | c.438T>A (p.Phe146Leu) c.369T>A (p.Phe123Leu) | |
| 6 | g.18139020A>C | CA362835664 | TPMT | c.437T>G (p.Phe146Cys) c.368T>G (p.Phe123Cys) | |
| 6 | g.18139020A>G | CA362835667 | TPMT | c.437T>C (p.Phe146Ser) c.368T>C (p.Phe123Ser) | |
| 6 | g.18139020A>T | CA362835671 | TPMT | c.437T>A (p.Phe146Tyr) c.368T>A (p.Phe123Tyr) | |
| 6 | g.18139021A>C | CA362835677 | TPMT | c.436T>G (p.Phe146Val) c.367T>G (p.Phe123Val) | |
| 6 | g.18139021A>G | CA362835679 | TPMT | c.436T>C (p.Phe146Leu) c.367T>C (p.Phe123Leu) | |
| 6 | g.18139021A>T | CA362835675 | TPMT | c.436T>A (p.Phe146Ile) c.367T>A (p.Phe123Ile) | |
| 6 | g.18139022T>A | CA362835680 | TPMT | c.435A>T (p.Lys145Asn) c.366A>T (p.Lys122Asn) |