WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.20862790C>A | CA478854997 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C>A (p.Val221=) c.359+4219C>A (n.359+4219C>A) c.135C>A (p.Val45=) c.579C>A (p.Val193=) | |
| 12 | g.20862790C= | CA2020845732 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C= (p.Val221=) c.359+4219C= (n.359+4219C=) c.135C= (p.Val45=) c.579C= (p.Val193=) | |
| 12 | g.20862790C>G | CA478854998 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C>G (p.Val221=) c.359+4219C>G (n.359+4219C>G) c.135C>G (p.Val45=) c.579C>G (p.Val193=) | |
| 12 | g.20862790C>T | CA6475289 | SLCO1B3,SLCO1B3-SLCO1B7 | c.663C>T (p.Val221=) c.359+4219C>T (n.359+4219C>T) c.135C>T (p.Val45=) c.579C>T (p.Val193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20862791A>C | CA384092189 | SLCO1B3,SLCO1B3-SLCO1B7 | c.664A>C (p.Ile222Leu) c.359+4220A>C (n.359+4220A>C) c.136A>C (p.Ile46Leu) c.580A>C (p.Ile194Leu) | |
| 12 | g.20862791A>G | CA384092190 | SLCO1B3,SLCO1B3-SLCO1B7 | c.664A>G (p.Ile222Val) c.359+4220A>G (n.359+4220A>G) c.136A>G (p.Ile46Val) c.580A>G (p.Ile194Val) | |
| 12 | g.20862791A>T | CA384092192 | SLCO1B3,SLCO1B3-SLCO1B7 | c.664A>T (p.Ile222Phe) c.359+4220A>T (n.359+4220A>T) c.136A>T (p.Ile46Phe) c.580A>T (p.Ile194Phe) | |
| 12 | g.20862792T>A | CA384092194 | SLCO1B3,SLCO1B3-SLCO1B7 | c.665T>A (p.Ile222Asn) c.359+4221T>A (n.359+4221T>A) c.137T>A (p.Ile46Asn) c.581T>A (p.Ile194Asn) | |
| 12 | g.20862792T>C | CA384092196 | SLCO1B3,SLCO1B3-SLCO1B7 | c.665T>C (p.Ile222Thr) c.359+4221T>C (n.359+4221T>C) c.137T>C (p.Ile46Thr) c.581T>C (p.Ile194Thr) | gnomAD v4 |
| 12 | g.20862792T>G | CA384092197 | SLCO1B3,SLCO1B3-SLCO1B7 | c.665T>G (p.Ile222Ser) c.359+4221T>G (n.359+4221T>G) c.137T>G (p.Ile46Ser) c.581T>G (p.Ile194Ser) | |
| 12 | g.20862793T>A | CA478854999 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T>A (p.Ile222=) c.359+4222T>A (n.359+4222T>A) c.138T>A (p.Ile46=) c.582T>A (p.Ile194=) | |
| 12 | g.20862793T>C | CA478855000 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T>C (p.Ile222=) c.359+4222T>C (n.359+4222T>C) c.138T>C (p.Ile46=) c.582T>C (p.Ile194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20862793T>G | CA384092198 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T>G (p.Ile222Met) c.359+4222T>G (n.359+4222T>G) c.138T>G (p.Ile46Met) c.582T>G (p.Ile194Met) | |
| 12 | g.20862793T= | CA2020845733 | SLCO1B3,SLCO1B3-SLCO1B7 | c.666T= (p.Ile222=) c.359+4222T= (n.359+4222T=) c.138T= (p.Ile46=) c.582T= (p.Ile194=) | |
| 12 | g.20862794G>A | CA384092200 | SLCO1B3,SLCO1B3-SLCO1B7 | c.667G>A (p.Gly223Ser) c.359+4223G>A (n.359+4223G>A) c.139G>A (p.Gly47Ser) c.583G>A (p.Gly195Ser) | |
| 12 | g.20862794G>C | CA384092202 | SLCO1B3,SLCO1B3-SLCO1B7 | c.667G>C (p.Gly223Arg) c.359+4223G>C (n.359+4223G>C) c.139G>C (p.Gly47Arg) c.583G>C (p.Gly195Arg) | |
| 12 | g.20862794G>T | CA384092204 | SLCO1B3,SLCO1B3-SLCO1B7 | c.667G>T (p.Gly223Cys) c.359+4223G>T (n.359+4223G>T) c.139G>T (p.Gly47Cys) c.583G>T (p.Gly195Cys) | |
| 12 | g.20862795del | CA2575095616 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668del (p.Gly223AlafsTer18) c.359+4224del (n.359+4224del) c.140del (p.Gly47AlafsTer18) c.584del (p.Gly195AlafsTer18) | gnomAD v4 |
| 12 | g.20862795G>A | CA384092205 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668G>A (p.Gly223Asp) c.359+4224G>A (n.359+4224G>A) c.140G>A (p.Gly47Asp) c.584G>A (p.Gly195Asp) | gnomAD v4 |
| 12 | g.20862795G>C | CA384092207 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668G>C (p.Gly223Ala) c.359+4224G>C (n.359+4224G>C) c.140G>C (p.Gly47Ala) c.584G>C (p.Gly195Ala) | gnomAD v4 |
| 12 | g.20862795G>T | CA384092209 | SLCO1B3,SLCO1B3-SLCO1B7 | c.668G>T (p.Gly223Val) c.359+4224G>T (n.359+4224G>T) c.140G>T (p.Gly47Val) c.584G>T (p.Gly195Val) | |
| 12 | g.20862796C>A | CA478855001 | SLCO1B3,SLCO1B3-SLCO1B7 | c.669C>A (p.Gly223=) c.359+4225C>A (n.359+4225C>A) c.141C>A (p.Gly47=) c.585C>A (p.Gly195=) | |
| 12 | g.20862796C>G | CA478855002 | SLCO1B3,SLCO1B3-SLCO1B7 | c.669C>G (p.Gly223=) c.359+4225C>G (n.359+4225C>G) c.141C>G (p.Gly47=) c.585C>G (p.Gly195=) | |
| 12 | g.20862796C>T | CA478855003 | SLCO1B3,SLCO1B3-SLCO1B7 | c.669C>T (p.Gly223=) c.359+4225C>T (n.359+4225C>T) c.141C>T (p.Gly47=) c.585C>T (p.Gly195=) | |
| 12 | g.20862797T>A | CA384092210 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670T>A (p.Phe224Ile) c.359+4226T>A (n.359+4226T>A) c.142T>A (p.Phe48Ile) c.586T>A (p.Phe196Ile) | |
| 12 | g.20862797T>C | CA384092214 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670T>C (p.Phe224Leu) c.359+4226T>C (n.359+4226T>C) c.142T>C (p.Phe48Leu) c.586T>C (p.Phe196Leu) | |
| 12 | g.20862797T>G | CA384092212 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670T>G (p.Phe224Val) c.359+4226T>G (n.359+4226T>G) c.142T>G (p.Phe48Val) c.586T>G (p.Phe196Val) | |
| 12 | g.20862797_20862798insA | CA2617889731 | SLCO1B3,SLCO1B3-SLCO1B7 | c.670_671insA (p.Phe224TyrfsTer9) c.359+4226_359+4227insA (n.359+4226_359+4227insA) c.142_143insA (p.Phe48TyrfsTer9) c.586_587insA (p.Phe196TyrfsTer9) | gnomAD v4 |
| 12 | g.20862798T>A | CA384092215 | SLCO1B3,SLCO1B3-SLCO1B7 | c.671T>A (p.Phe224Tyr) c.359+4227T>A (n.359+4227T>A) c.143T>A (p.Phe48Tyr) c.587T>A (p.Phe196Tyr) | |
| 12 | g.20862798T>C | CA384092217 | SLCO1B3,SLCO1B3-SLCO1B7 | c.671T>C (p.Phe224Ser) c.359+4227T>C (n.359+4227T>C) c.143T>C (p.Phe48Ser) c.587T>C (p.Phe196Ser) | |
| 12 | g.20862798T>G | CA384092219 | SLCO1B3,SLCO1B3-SLCO1B7 | c.671T>G (p.Phe224Cys) c.359+4227T>G (n.359+4227T>G) c.143T>G (p.Phe48Cys) c.587T>G (p.Phe196Cys) | |
| 12 | g.20862799T>A | CA384092221 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T>A (p.Phe224Leu) c.359+4228T>A (n.359+4228T>A) c.144T>A (p.Phe48Leu) c.588T>A (p.Phe196Leu) | |
| 12 | g.20862799T>C | CA478855004 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T>C (p.Phe224=) c.359+4228T>C (n.359+4228T>C) c.144T>C (p.Phe48=) c.588T>C (p.Phe196=) | dbSNP gnomAD v4 |
| 12 | g.20862799T>G | CA384092223 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T>G (p.Phe224Leu) c.359+4228T>G (n.359+4228T>G) c.144T>G (p.Phe48Leu) c.588T>G (p.Phe196Leu) | |
| 12 | g.20862799T= | CA2020845734 | SLCO1B3,SLCO1B3-SLCO1B7 | c.672T= (p.Phe224=) c.359+4228T= (n.359+4228T=) c.144T= (p.Phe48=) c.588T= (p.Phe196=) | |
| 12 | g.20862800G>A | CA384092225 | SLCO1B3,SLCO1B3-SLCO1B7 | c.673G>A (p.Ala225Thr) c.359+4229G>A (n.359+4229G>A) c.145G>A (p.Ala49Thr) c.589G>A (p.Ala197Thr) | |
| 12 | g.20862800G>C | CA384092227 | SLCO1B3,SLCO1B3-SLCO1B7 | c.673G>C (p.Ala225Pro) c.359+4229G>C (n.359+4229G>C) c.145G>C (p.Ala49Pro) c.589G>C (p.Ala197Pro) | |
| 12 | g.20862800G>T | CA384092229 | SLCO1B3,SLCO1B3-SLCO1B7 | c.673G>T (p.Ala225Ser) c.359+4229G>T (n.359+4229G>T) c.145G>T (p.Ala49Ser) c.589G>T (p.Ala197Ser) | |
| 12 | g.20862801C>A | CA384092230 | SLCO1B3,SLCO1B3-SLCO1B7 | c.674C>A (p.Ala225Glu) c.359+4230C>A (n.359+4230C>A) c.146C>A (p.Ala49Glu) c.590C>A (p.Ala197Glu) | |
| 12 | g.20862801C>G | CA384092231 | SLCO1B3,SLCO1B3-SLCO1B7 | c.674C>G (p.Ala225Gly) c.359+4230C>G (n.359+4230C>G) c.146C>G (p.Ala49Gly) c.590C>G (p.Ala197Gly) | |
| 12 | g.20862801C>T | CA384092233 | SLCO1B3,SLCO1B3-SLCO1B7 | c.674C>T (p.Ala225Val) c.359+4230C>T (n.359+4230C>T) c.146C>T (p.Ala49Val) c.590C>T (p.Ala197Val) | gnomAD v4 |
| 12 | g.20862802A>C | CA478855006 | SLCO1B3,SLCO1B3-SLCO1B7 | c.675A>C (p.Ala225=) c.359+4231A>C (n.359+4231A>C) c.147A>C (p.Ala49=) c.591A>C (p.Ala197=) | |
| 12 | g.20862802A>G | CA478855007 | SLCO1B3,SLCO1B3-SLCO1B7 | c.675A>G (p.Ala225=) c.359+4231A>G (n.359+4231A>G) c.147A>G (p.Ala49=) c.591A>G (p.Ala197=) | |
| 12 | g.20862802A>T | CA478855005 | SLCO1B3,SLCO1B3-SLCO1B7 | c.675A>T (p.Ala225=) c.359+4231A>T (n.359+4231A>T) c.147A>T (p.Ala49=) c.591A>T (p.Ala197=) | |
| 12 | g.20862803C>A | CA384092236 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C>A (p.Leu226Met) c.359+4232C>A (n.359+4232C>A) c.148C>A (p.Leu50Met) c.592C>A (p.Leu198Met) | ClinVar |
| 12 | g.20862803C= | CA2020845735 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C= (p.Leu226=) c.359+4232C= (n.359+4232C=) c.148C= (p.Leu50=) c.592C= (p.Leu198=) | |
| 12 | g.20862803C>G | CA6475290 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C>G (p.Leu226Val) c.359+4232C>G (n.359+4232C>G) c.148C>G (p.Leu50Val) c.592C>G (p.Leu198Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.20862803C>T | CA6475291 | SLCO1B3,SLCO1B3-SLCO1B7 | c.676C>T (p.Leu226=) c.359+4232C>T (n.359+4232C>T) c.148C>T (p.Leu50=) c.592C>T (p.Leu198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.20862804T>A | CA384092240 | SLCO1B3,SLCO1B3-SLCO1B7 | c.677T>A (p.Leu226Gln) c.359+4233T>A (n.359+4233T>A) c.149T>A (p.Leu50Gln) c.593T>A (p.Leu198Gln) | |
| 12 | g.20862804T>C | CA233479634 | SLCO1B3,SLCO1B3-SLCO1B7 | c.677T>C (p.Leu226Pro) c.359+4233T>C (n.359+4233T>C) c.149T>C (p.Leu50Pro) c.593T>C (p.Leu198Pro) | dbSNP gnomAD v4 |