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 |
|---|---|---|---|---|---|
| 12 | g.20858437_20858442del | CA2617887944 | SLCO1B3,SLCO1B3-SLCO1B7 | c.227-2_230del n.79-2_82del c.143-2_146del | gnomAD v4 |
| 12 | g.20858442A= | CA2020843375 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A= (p.Asn77=) n.82A= c.146A= (p.Asn49=) | |
| 12 | g.20858442A>C | CA384098732 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A>C (p.Asn77Thr) n.82A>C c.146A>C (p.Asn49Thr) | |
| 12 | g.20858442A>G | CA6475116 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A>G (p.Asn77Ser) n.82A>G c.146A>G (p.Asn49Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858442A>T | CA384098735 | SLCO1B3,SLCO1B3-SLCO1B7 | c.230A>T (p.Asn77Ile) n.82A>T c.146A>T (p.Asn49Ile) | |
| 12 | g.20858443T>A | CA384098736 | SLCO1B3,SLCO1B3-SLCO1B7 | c.231T>A (p.Asn77Lys) n.83T>A c.147T>A (p.Asn49Lys) | |
| 12 | g.20858443T>C | CA478862081 | SLCO1B3,SLCO1B3-SLCO1B7 | c.231T>C (p.Asn77=) n.83T>C c.147T>C (p.Asn49=) | |
| 12 | g.20858443T>G | CA384098737 | SLCO1B3,SLCO1B3-SLCO1B7 | c.231T>G (p.Asn77Lys) n.83T>G c.147T>G (p.Asn49Lys) | |
| 12 | g.20858444T>A | CA384098740 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T>A (p.Leu78Met) n.84T>A c.148T>A (p.Leu50Met) | |
| 12 | g.20858444T>C | CA478862082 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T>C (p.Leu78=) n.84T>C c.148T>C (p.Leu50=) | |
| 12 | g.20858444T>G | CA6475117 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T>G (p.Leu78Val) n.84T>G c.148T>G (p.Leu50Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858444T= | CA2020843376 | SLCO1B3,SLCO1B3-SLCO1B7 | c.232T= (p.Leu78=) n.84T= c.148T= (p.Leu50=) | |
| 12 | g.20858445T>A | CA384098742 | SLCO1B3,SLCO1B3-SLCO1B7 | c.233T>A (p.Leu78Ter) n.85T>A c.149T>A (p.Leu50Ter) | |
| 12 | g.20858445T>C | CA384098744 | SLCO1B3,SLCO1B3-SLCO1B7 | c.233T>C (p.Leu78Ser) n.85T>C c.149T>C (p.Leu50Ser) | |
| 12 | g.20858445T>G | CA384098746 | SLCO1B3,SLCO1B3-SLCO1B7 | c.233T>G (p.Leu78Trp) n.85T>G c.149T>G (p.Leu50Trp) | |
| 12 | g.20858446G>A | CA478862086 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>A (p.Leu78=) n.86G>A c.150G>A (p.Leu50=) | |
| 12 | g.20858446G>C | CA384098747 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>C (p.Leu78Phe) n.86G>C c.150G>C (p.Leu50Phe) | |
| 12 | g.20858446G= | CA2020843377 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G= (p.Leu78=) n.86G= c.150G= (p.Leu50=) | |
| 12 | g.20858446G>T | CA384098749 | SLCO1B3,SLCO1B3-SLCO1B7 | c.234G>T (p.Leu78Phe) n.86G>T c.150G>T (p.Leu50Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.20858447C>A | CA384098751 | SLCO1B3,SLCO1B3-SLCO1B7 | c.235C>A (p.Leu79Ile) n.87C>A c.151C>A (p.Leu51Ile) | gnomAD v4 |
| 12 | g.20858447C>G | CA384098753 | SLCO1B3,SLCO1B3-SLCO1B7 | c.235C>G (p.Leu79Val) n.87C>G c.151C>G (p.Leu51Val) | |
| 12 | g.20858447C>T | CA384098755 | SLCO1B3,SLCO1B3-SLCO1B7 | c.235C>T (p.Leu79Phe) n.87C>T c.151C>T (p.Leu51Phe) | |
| 12 | g.20858448T>A | CA384098757 | SLCO1B3,SLCO1B3-SLCO1B7 | c.236T>A (p.Leu79His) n.88T>A c.152T>A (p.Leu51His) | |
| 12 | g.20858448T>C | CA384098759 | SLCO1B3,SLCO1B3-SLCO1B7 | c.236T>C (p.Leu79Pro) n.88T>C c.152T>C (p.Leu51Pro) | gnomAD v4 |
| 12 | g.20858448T>G | CA384098760 | SLCO1B3,SLCO1B3-SLCO1B7 | c.236T>G (p.Leu79Arg) n.88T>G c.152T>G (p.Leu51Arg) | |
| 12 | g.20858449T>A | CA478862093 | SLCO1B3,SLCO1B3-SLCO1B7 | c.237T>A (p.Leu79=) n.89T>A c.153T>A (p.Leu51=) | |
| 12 | g.20858449T>C | CA478862090 | SLCO1B3,SLCO1B3-SLCO1B7 | c.237T>C (p.Leu79=) n.89T>C c.153T>C (p.Leu51=) | |
| 12 | g.20858449T>G | CA478862092 | SLCO1B3,SLCO1B3-SLCO1B7 | c.237T>G (p.Leu79=) n.89T>G c.153T>G (p.Leu51=) | |
| 12 | g.20858451_20858452del | CA2575095547 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239_240del (p.Val80AspfsTer10) n.91_92del c.155_156del (p.Val52AspfsTer10) | |
| 12 | g.20858450G>A | CA384098763 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G>A (p.Val80Met) n.90G>A c.154G>A (p.Val52Met) | |
| 12 | g.20858450G>C | CA384098764 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G>C (p.Val80Leu) n.90G>C c.154G>C (p.Val52Leu) | |
| 12 | g.20858450G= | CA2020843378 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G= (p.Val80=) n.90G= c.154G= (p.Val52=) | |
| 12 | g.20858450G>T | CA6475118 | SLCO1B3,SLCO1B3-SLCO1B7 | c.238G>T (p.Val80Leu) n.90G>T c.154G>T (p.Val52Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20858451T>A | CA384098768 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239T>A (p.Val80Glu) n.91T>A c.155T>A (p.Val52Glu) | |
| 12 | g.20858451T>C | CA384098769 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239T>C (p.Val80Ala) n.91T>C c.155T>C (p.Val52Ala) | |
| 12 | g.20858451T>G | CA384098771 | SLCO1B3,SLCO1B3-SLCO1B7 | c.239T>G (p.Val80Gly) n.91T>G c.155T>G (p.Val52Gly) | |
| 12 | g.20858452G>A | CA478862095 | SLCO1B3,SLCO1B3-SLCO1B7 | c.240G>A (p.Val80=) n.92G>A c.156G>A (p.Val52=) | |
| 12 | g.20858452G>C | CA478862097 | SLCO1B3,SLCO1B3-SLCO1B7 | c.240G>C (p.Val80=) n.92G>C c.156G>C (p.Val52=) | |
| 12 | g.20858452G>T | CA478862096 | SLCO1B3,SLCO1B3-SLCO1B7 | c.240G>T (p.Val80=) n.92G>T c.156G>T (p.Val52=) | |
| 12 | g.20858453A= | CA2020843380 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A= (p.Ile81=) n.93A= c.157A= (p.Ile53=) | |
| 12 | g.20858453A>C | CA384098776 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A>C (p.Ile81Leu) n.93A>C c.157A>C (p.Ile53Leu) | |
| 12 | g.20858453A>G | CA384098778 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A>G (p.Ile81Val) n.93A>G c.157A>G (p.Ile53Val) | dbSNP gnomAD v4 |
| 12 | g.20858453A>T | CA384098774 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241A>T (p.Ile81Phe) n.93A>T c.157A>T (p.Ile53Phe) | gnomAD v4 |
| 12 | g.20858453_20858459delinsATTGTAT | CA2020843379 | SLCO1B3,SLCO1B3-SLCO1B7 | c.241_247delinsATTGTAT (p.Ile81=) n.93_99delinsATTGTAT c.157_163delinsATTGTAT (p.Ile53=) | |
| 12 | g.20858454T>A | CA384098779 | SLCO1B3,SLCO1B3-SLCO1B7 | c.242T>A (p.Ile81Asn) n.94T>A c.158T>A (p.Ile53Asn) | |
| 12 | g.20858454T>C | CA384098781 | SLCO1B3,SLCO1B3-SLCO1B7 | c.242T>C (p.Ile81Thr) n.94T>C c.158T>C (p.Ile53Thr) | |
| 12 | g.20858454T>G | CA384098783 | SLCO1B3,SLCO1B3-SLCO1B7 | c.242T>G (p.Ile81Ser) n.94T>G c.158T>G (p.Ile53Ser) | |
| 12 | g.20858459_20858464del | CA233517485 | SLCO1B3,SLCO1B3-SLCO1B7 | c.247_252del (p.Phe83_Val84del) n.99_104del c.163_168del (p.Phe55_Val56del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.20858455T>A | CA478862099 | SLCO1B3,SLCO1B3-SLCO1B7 | c.243T>A (p.Ile81=) n.95T>A c.159T>A (p.Ile53=) | |
| 12 | g.20858455T>C | CA478862100 | SLCO1B3,SLCO1B3-SLCO1B7 | c.243T>C (p.Ile81=) n.95T>C c.159T>C (p.Ile53=) |