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 |
|---|---|---|---|---|---|
| 11 | g.75196547C>A | CA381871141 | SLCO2B1 | c.1467C>A (p.Cys489Ter) c.1401C>A (p.Cys467Ter) c.786C>A (p.Cys262Ter) c.1035C>A (p.Cys345Ter) n.273C>A n.294C>A n.1014C>A c.1119C>A (p.Cys373Ter) c.1473C>A (p.Cys491Ter) | |
| 11 | g.75196547C= | CA1983218003 | SLCO2B1 | c.1467C= (p.Cys489=) c.1401C= (p.Cys467=) c.786C= (p.Cys262=) c.1035C= (p.Cys345=) n.273C= n.294C= n.1014C= c.1119C= (p.Cys373=) c.1473C= (p.Cys491=) | |
| 11 | g.75196547C>G | CA381871142 | SLCO2B1 | c.1467C>G (p.Cys489Trp) c.1401C>G (p.Cys467Trp) c.786C>G (p.Cys262Trp) c.1035C>G (p.Cys345Trp) n.273C>G n.294C>G n.1014C>G c.1119C>G (p.Cys373Trp) c.1473C>G (p.Cys491Trp) | |
| 11 | g.75196547C>T | CA475707510 | SLCO2B1 | c.1467C>T (p.Cys489=) c.1401C>T (p.Cys467=) c.786C>T (p.Cys262=) c.1035C>T (p.Cys345=) n.273C>T n.294C>T n.1014C>T c.1119C>T (p.Cys373=) c.1473C>T (p.Cys491=) | |
| 11 | g.75196548A= | CA1983218004 | SLCO2B1 | c.1468A= (p.Met490=) c.1402A= (p.Met468=) c.787A= (p.Met263=) c.1036A= (p.Met346=) n.274A= n.295A= n.1015A= c.1120A= (p.Met374=) c.1474A= (p.Met492=) | |
| 11 | g.75196548A>C | CA381871143 | SLCO2B1 | c.1468A>C (p.Met490Leu) c.1402A>C (p.Met468Leu) c.787A>C (p.Met263Leu) c.1036A>C (p.Met346Leu) n.274A>C n.295A>C n.1015A>C c.1120A>C (p.Met374Leu) c.1474A>C (p.Met492Leu) | |
| 11 | g.75196548A>G | CA6188402 | SLCO2B1 | c.1468A>G (p.Met490Val) c.1402A>G (p.Met468Val) c.787A>G (p.Met263Val) c.1036A>G (p.Met346Val) n.274A>G n.295A>G n.1015A>G c.1120A>G (p.Met374Val) c.1474A>G (p.Met492Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196548A>T | CA381871144 | SLCO2B1 | c.1468A>T (p.Met490Leu) c.1402A>T (p.Met468Leu) c.787A>T (p.Met263Leu) c.1036A>T (p.Met346Leu) n.274A>T n.295A>T n.1015A>T c.1120A>T (p.Met374Leu) c.1474A>T (p.Met492Leu) | |
| 11 | g.75196548dup | CA600282354 | SLCO2B1 | c.1468dup (p.Met490AsnfsTer12) c.1402dup (p.Met468AsnfsTer12) c.787dup (p.Met263AsnfsTer12) c.1036dup (p.Met346AsnfsTer12) n.274dup n.295dup n.1015dup c.1120dup (p.Met374AsnfsTer12) c.1474dup (p.Met492AsnfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75196549T>A | CA381871147 | SLCO2B1 | c.1469T>A (p.Met490Lys) c.1403T>A (p.Met468Lys) c.788T>A (p.Met263Lys) c.1037T>A (p.Met346Lys) n.275T>A n.296T>A n.1016T>A c.1121T>A (p.Met374Lys) c.1475T>A (p.Met492Lys) | |
| 11 | g.75196549T>C | CA381871146 | SLCO2B1 | c.1469T>C (p.Met490Thr) c.1403T>C (p.Met468Thr) c.788T>C (p.Met263Thr) c.1037T>C (p.Met346Thr) n.275T>C n.296T>C n.1016T>C c.1121T>C (p.Met374Thr) c.1475T>C (p.Met492Thr) | gnomAD v4 |
| 11 | g.75196549T>G | CA381871145 | SLCO2B1 | c.1469T>G (p.Met490Arg) c.1403T>G (p.Met468Arg) c.788T>G (p.Met263Arg) c.1037T>G (p.Met346Arg) n.275T>G n.296T>G n.1016T>G c.1121T>G (p.Met374Arg) c.1475T>G (p.Met492Arg) | |
| 11 | g.75196550G>A | CA381871148 | SLCO2B1 | c.1470G>A (p.Met490Ile) c.1404G>A (p.Met468Ile) c.789G>A (p.Met263Ile) c.1038G>A (p.Met346Ile) n.276G>A n.297G>A n.1017G>A c.1122G>A (p.Met374Ile) c.1476G>A (p.Met492Ile) | dbSNP |
| 11 | g.75196550G>C | CA381871149 | SLCO2B1 | c.1470G>C (p.Met490Ile) c.1404G>C (p.Met468Ile) c.789G>C (p.Met263Ile) c.1038G>C (p.Met346Ile) n.276G>C n.297G>C n.1017G>C c.1122G>C (p.Met374Ile) c.1476G>C (p.Met492Ile) | |
| 11 | g.75196550G= | CA1983218005 | SLCO2B1 | c.1470G= (p.Met490=) c.1404G= (p.Met468=) c.789G= (p.Met263=) c.1038G= (p.Met346=) n.276G= n.297G= n.1017G= c.1122G= (p.Met374=) c.1476G= (p.Met492=) | |
| 11 | g.75196550G>T | CA381871150 | SLCO2B1 | c.1470G>T (p.Met490Ile) c.1404G>T (p.Met468Ile) c.789G>T (p.Met263Ile) c.1038G>T (p.Met346Ile) n.276G>T n.297G>T n.1017G>T c.1122G>T (p.Met374Ile) c.1476G>T (p.Met492Ile) | COSMIC |
| 11 | g.75196551G>A | CA381871151 | SLCO2B1 | c.1471G>A (p.Glu491Lys) c.1405G>A (p.Glu469Lys) c.790G>A (p.Glu264Lys) c.1039G>A (p.Glu347Lys) n.277G>A n.298G>A n.1018G>A c.1123G>A (p.Glu375Lys) c.1477G>A (p.Glu493Lys) | gnomAD v4 |
| 11 | g.75196551G>C | CA381871152 | SLCO2B1 | c.1471G>C (p.Glu491Gln) c.1405G>C (p.Glu469Gln) c.790G>C (p.Glu264Gln) c.1039G>C (p.Glu347Gln) n.277G>C n.298G>C n.1018G>C c.1123G>C (p.Glu375Gln) c.1477G>C (p.Glu493Gln) | |
| 11 | g.75196551G>T | CA381871153 | SLCO2B1 | c.1471G>T (p.Glu491Ter) c.1405G>T (p.Glu469Ter) c.790G>T (p.Glu264Ter) c.1039G>T (p.Glu347Ter) n.277G>T n.298G>T n.1018G>T c.1123G>T (p.Glu375Ter) c.1477G>T (p.Glu493Ter) | |
| 11 | g.75196552A>C | CA381871154 | SLCO2B1 | c.1472A>C (p.Glu491Ala) c.1406A>C (p.Glu469Ala) c.791A>C (p.Glu264Ala) c.1040A>C (p.Glu347Ala) n.278A>C n.299A>C n.1019A>C c.1124A>C (p.Glu375Ala) c.1478A>C (p.Glu493Ala) | |
| 11 | g.75196552A>G | CA381871156 | SLCO2B1 | c.1472A>G (p.Glu491Gly) c.1406A>G (p.Glu469Gly) c.791A>G (p.Glu264Gly) c.1040A>G (p.Glu347Gly) n.278A>G n.299A>G n.1019A>G c.1124A>G (p.Glu375Gly) c.1478A>G (p.Glu493Gly) | |
| 11 | g.75196552A>T | CA381871155 | SLCO2B1 | c.1472A>T (p.Glu491Val) c.1406A>T (p.Glu469Val) c.791A>T (p.Glu264Val) c.1040A>T (p.Glu347Val) n.278A>T n.299A>T n.1019A>T c.1124A>T (p.Glu375Val) c.1478A>T (p.Glu493Val) | |
| 11 | g.75196553G>A | CA475707528 | SLCO2B1 | c.1473G>A (p.Glu491=) c.1407G>A (p.Glu469=) c.792G>A (p.Glu264=) c.1041G>A (p.Glu347=) n.279G>A n.300G>A n.1020G>A c.1125G>A (p.Glu375=) c.1479G>A (p.Glu493=) | |
| 11 | g.75196553G>C | CA381871157 | SLCO2B1 | c.1473G>C (p.Glu491Asp) c.1407G>C (p.Glu469Asp) c.792G>C (p.Glu264Asp) c.1041G>C (p.Glu347Asp) n.279G>C n.300G>C n.1020G>C c.1125G>C (p.Glu375Asp) c.1479G>C (p.Glu493Asp) | gnomAD v4 |
| 11 | g.75196553G>T | CA381871158 | SLCO2B1 | c.1473G>T (p.Glu491Asp) c.1407G>T (p.Glu469Asp) c.792G>T (p.Glu264Asp) c.1041G>T (p.Glu347Asp) n.279G>T n.300G>T n.1020G>T c.1125G>T (p.Glu375Asp) c.1479G>T (p.Glu493Asp) | |
| 11 | g.75196554G>A | CA6188403 | SLCO2B1 | c.1474G>A (p.Ala492Thr) c.1408G>A (p.Ala470Thr) c.793G>A (p.Ala265Thr) c.1042G>A (p.Ala348Thr) n.280G>A n.301G>A n.1021G>A c.1126G>A (p.Ala376Thr) c.1480G>A (p.Ala494Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196554G>C | CA381871159 | SLCO2B1 | c.1474G>C (p.Ala492Pro) c.1408G>C (p.Ala470Pro) c.793G>C (p.Ala265Pro) c.1042G>C (p.Ala348Pro) n.280G>C n.301G>C n.1021G>C c.1126G>C (p.Ala376Pro) c.1480G>C (p.Ala494Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75196554G= | CA1983218006 | SLCO2B1 | c.1474G= (p.Ala492=) c.1408G= (p.Ala470=) c.793G= (p.Ala265=) c.1042G= (p.Ala348=) n.280G= n.301G= n.1021G= c.1126G= (p.Ala376=) c.1480G= (p.Ala494=) | |
| 11 | g.75196554G>T | CA381871160 | SLCO2B1 | c.1474G>T (p.Ala492Ser) c.1408G>T (p.Ala470Ser) c.793G>T (p.Ala265Ser) c.1042G>T (p.Ala348Ser) n.280G>T n.301G>T n.1021G>T c.1126G>T (p.Ala376Ser) c.1480G>T (p.Ala494Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196555C>A | CA381871161 | SLCO2B1 | c.1475C>A (p.Ala492Asp) c.1409C>A (p.Ala470Asp) c.794C>A (p.Ala265Asp) c.1043C>A (p.Ala348Asp) n.281C>A n.302C>A n.1022C>A c.1127C>A (p.Ala376Asp) c.1481C>A (p.Ala494Asp) | |
| 11 | g.75196555C= | CA1983218007 | SLCO2B1 | c.1475C= (p.Ala492=) c.1409C= (p.Ala470=) c.794C= (p.Ala265=) c.1043C= (p.Ala348=) n.281C= n.302C= n.1022C= c.1127C= (p.Ala376=) c.1481C= (p.Ala494=) | |
| 11 | g.75196555C>G | CA381871162 | SLCO2B1 | c.1475C>G (p.Ala492Gly) c.1409C>G (p.Ala470Gly) c.794C>G (p.Ala265Gly) c.1043C>G (p.Ala348Gly) n.281C>G n.302C>G n.1022C>G c.1127C>G (p.Ala376Gly) c.1481C>G (p.Ala494Gly) | |
| 11 | g.75196555C>T | CA381871163 | SLCO2B1 | c.1475C>T (p.Ala492Val) c.1409C>T (p.Ala470Val) c.794C>T (p.Ala265Val) c.1043C>T (p.Ala348Val) n.281C>T n.302C>T n.1022C>T c.1127C>T (p.Ala376Val) c.1481C>T (p.Ala494Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196556C>A | CA475707540 | SLCO2B1 | c.1476C>A (p.Ala492=) c.1410C>A (p.Ala470=) c.795C>A (p.Ala265=) c.1044C>A (p.Ala348=) n.282C>A n.303C>A n.1023C>A c.1128C>A (p.Ala376=) c.1482C>A (p.Ala494=) | |
| 11 | g.75196556C= | CA1983218008 | SLCO2B1 | c.1476C= (p.Ala492=) c.1410C= (p.Ala470=) c.795C= (p.Ala265=) c.1044C= (p.Ala348=) n.282C= n.303C= n.1023C= c.1128C= (p.Ala376=) c.1482C= (p.Ala494=) | |
| 11 | g.75196556C>G | CA475707537 | SLCO2B1 | c.1476C>G (p.Ala492=) c.1410C>G (p.Ala470=) c.795C>G (p.Ala265=) c.1044C>G (p.Ala348=) n.282C>G n.303C>G n.1023C>G c.1128C>G (p.Ala376=) c.1482C>G (p.Ala494=) | |
| 11 | g.75196556C>T | CA475707539 | SLCO2B1 | c.1476C>T (p.Ala492=) c.1410C>T (p.Ala470=) c.795C>T (p.Ala265=) c.1044C>T (p.Ala348=) n.282C>T n.303C>T n.1023C>T c.1128C>T (p.Ala376=) c.1482C>T (p.Ala494=) | dbSNP gnomAD v4 |
| 11 | g.75196557T>A | CA381871164 | SLCO2B1 | c.1477T>A (p.Cys493Ser) c.1411T>A (p.Cys471Ser) c.796T>A (p.Cys266Ser) c.1045T>A (p.Cys349Ser) n.283T>A n.304T>A n.1024T>A c.1129T>A (p.Cys377Ser) c.1483T>A (p.Cys495Ser) | |
| 11 | g.75196557T>C | CA381871165 | SLCO2B1 | c.1477T>C (p.Cys493Arg) c.1411T>C (p.Cys471Arg) c.796T>C (p.Cys266Arg) c.1045T>C (p.Cys349Arg) n.283T>C n.304T>C n.1024T>C c.1129T>C (p.Cys377Arg) c.1483T>C (p.Cys495Arg) | |
| 11 | g.75196557T>G | CA381871166 | SLCO2B1 | c.1477T>G (p.Cys493Gly) c.1411T>G (p.Cys471Gly) c.796T>G (p.Cys266Gly) c.1045T>G (p.Cys349Gly) n.283T>G n.304T>G n.1024T>G c.1129T>G (p.Cys377Gly) c.1483T>G (p.Cys495Gly) | |
| 11 | g.75196558G>A | CA381871167 | SLCO2B1 | c.1478G>A (p.Cys493Tyr) c.1412G>A (p.Cys471Tyr) c.797G>A (p.Cys266Tyr) c.1046G>A (p.Cys349Tyr) n.284G>A n.305G>A n.1025G>A c.1130G>A (p.Cys377Tyr) c.1484G>A (p.Cys495Tyr) | |
| 11 | g.75196558G>C | CA381871169 | SLCO2B1 | c.1478G>C (p.Cys493Ser) c.1412G>C (p.Cys471Ser) c.797G>C (p.Cys266Ser) c.1046G>C (p.Cys349Ser) n.284G>C n.305G>C n.1025G>C c.1130G>C (p.Cys377Ser) c.1484G>C (p.Cys495Ser) | |
| 11 | g.75196558G>T | CA381871168 | SLCO2B1 | c.1478G>T (p.Cys493Phe) c.1412G>T (p.Cys471Phe) c.797G>T (p.Cys266Phe) c.1046G>T (p.Cys349Phe) n.284G>T n.305G>T n.1025G>T c.1130G>T (p.Cys377Phe) c.1484G>T (p.Cys495Phe) | gnomAD v4 |
| 11 | g.75196559C>A | CA381871170 | SLCO2B1 | c.1479C>A (p.Cys493Ter) c.1413C>A (p.Cys471Ter) c.798C>A (p.Cys266Ter) c.1047C>A (p.Cys349Ter) n.285C>A n.306C>A n.1026C>A c.1131C>A (p.Cys377Ter) c.1485C>A (p.Cys495Ter) | |
| 11 | g.75196559C= | CA1983218009 | SLCO2B1 | c.1479C= (p.Cys493=) c.1413C= (p.Cys471=) c.798C= (p.Cys266=) c.1047C= (p.Cys349=) n.285C= n.306C= n.1026C= c.1131C= (p.Cys377=) c.1485C= (p.Cys495=) | |
| 11 | g.75196559C>G | CA381871171 | SLCO2B1 | c.1479C>G (p.Cys493Trp) c.1413C>G (p.Cys471Trp) c.798C>G (p.Cys266Trp) c.1047C>G (p.Cys349Trp) n.285C>G n.306C>G n.1026C>G c.1131C>G (p.Cys377Trp) c.1485C>G (p.Cys495Trp) | |
| 11 | g.75196559C>T | CA6188404 | SLCO2B1 | c.1479C>T (p.Cys493=) c.1413C>T (p.Cys471=) c.798C>T (p.Cys266=) c.1047C>T (p.Cys349=) n.285C>T n.306C>T n.1026C>T c.1131C>T (p.Cys377=) c.1485C>T (p.Cys495=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196560T>A | CA381871172 | SLCO2B1 | c.1480T>A (p.Ser494Thr) c.1414T>A (p.Ser472Thr) c.799T>A (p.Ser267Thr) c.1048T>A (p.Ser350Thr) n.286T>A n.307T>A n.1027T>A c.1132T>A (p.Ser378Thr) c.1486T>A (p.Ser496Thr) | |
| 11 | g.75196560T>C | CA381871173 | SLCO2B1 | c.1480T>C (p.Ser494Pro) c.1414T>C (p.Ser472Pro) c.799T>C (p.Ser267Pro) c.1048T>C (p.Ser350Pro) n.286T>C n.307T>C n.1027T>C c.1132T>C (p.Ser378Pro) c.1486T>C (p.Ser496Pro) | |
| 11 | g.75196560T>G | CA381871174 | SLCO2B1 | c.1480T>G (p.Ser494Ala) c.1414T>G (p.Ser472Ala) c.799T>G (p.Ser267Ala) c.1048T>G (p.Ser350Ala) n.286T>G n.307T>G n.1027T>G c.1132T>G (p.Ser378Ala) c.1486T>G (p.Ser496Ala) |