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 |
|---|---|---|---|---|---|
| 16 | g.56983383T>A | CA396008286 | CETP | c.1379T>A (p.Ile460Asn) n.1777T>A c.1199T>A (p.Ile400Asn) c.1184T>A (p.Ile395Asn) | |
| 16 | g.56983383T>C | CA396008287 | CETP | c.1379T>C (p.Ile460Thr) n.1777T>C c.1199T>C (p.Ile400Thr) c.1184T>C (p.Ile395Thr) | |
| 16 | g.56983383T>G | CA396008289 | CETP | c.1379T>G (p.Ile460Ser) n.1777T>G c.1199T>G (p.Ile400Ser) c.1184T>G (p.Ile395Ser) | gnomAD v4 |
| 16 | g.56983384C>A | CA495622580 | CETP | c.1380C>A (p.Ile460=) n.1778C>A c.1200C>A (p.Ile400=) c.1185C>A (p.Ile395=) | |
| 16 | g.56983384C>G | CA396008291 | CETP | c.1380C>G (p.Ile460Met) n.1778C>G c.1200C>G (p.Ile400Met) c.1185C>G (p.Ile395Met) | |
| 16 | g.56983384C>T | CA495622582 | CETP | c.1380C>T (p.Ile460=) n.1778C>T c.1200C>T (p.Ile400=) c.1185C>T (p.Ile395=) | dbSNP |
| 16 | g.56983385A>C | CA396008293 | CETP | c.1381A>C (p.Ile461Leu) n.1779A>C c.1201A>C (p.Ile401Leu) c.1186A>C (p.Ile396Leu) | |
| 16 | g.56983385A>G | CA396008295 | CETP | c.1381A>G (p.Ile461Val) n.1779A>G c.1201A>G (p.Ile401Val) c.1186A>G (p.Ile396Val) | gnomAD v4 |
| 16 | g.56983385A>T | CA396008294 | CETP | c.1381A>T (p.Ile461Phe) n.1779A>T c.1201A>T (p.Ile401Phe) c.1186A>T (p.Ile396Phe) | |
| 16 | g.56983386T>A | CA396008297 | CETP | c.1382T>A (p.Ile461Asn) n.1780T>A c.1202T>A (p.Ile401Asn) c.1187T>A (p.Ile396Asn) | |
| 16 | g.56983386T>C | CA396008298 | CETP | c.1382T>C (p.Ile461Thr) n.1780T>C c.1202T>C (p.Ile401Thr) c.1187T>C (p.Ile396Thr) | dbSNP |
| 16 | g.56983386T>G | CA396008300 | CETP | c.1382T>G (p.Ile461Ser) n.1780T>G c.1202T>G (p.Ile401Ser) c.1187T>G (p.Ile396Ser) | |
| 16 | g.56983386T= | CA2224402562 | CETP | c.1382T= (p.Ile461=) n.1780T= c.1202T= (p.Ile401=) c.1187T= (p.Ile396=) | |
| 16 | g.56983387C>A | CA495622591 | CETP | c.1383C>A (p.Ile461=) n.1781C>A c.1203C>A (p.Ile401=) c.1188C>A (p.Ile396=) | |
| 16 | g.56983387C>G | CA396008301 | CETP | c.1383C>G (p.Ile461Met) n.1781C>G c.1203C>G (p.Ile401Met) c.1188C>G (p.Ile396Met) | |
| 16 | g.56983387C>T | CA495622593 | CETP | c.1383C>T (p.Ile461=) n.1781C>T c.1203C>T (p.Ile401=) c.1188C>T (p.Ile396=) | |
| 16 | g.56983388A>C | CA396008303 | CETP | c.1384A>C (p.Asn462His) n.1782A>C c.1204A>C (p.Asn402His) c.1189A>C (p.Asn397His) | |
| 16 | g.56983388A>G | CA396008306 | CETP | c.1384A>G (p.Asn462Asp) n.1782A>G c.1204A>G (p.Asn402Asp) c.1189A>G (p.Asn397Asp) | |
| 16 | g.56983388A>T | CA396008305 | CETP | c.1384A>T (p.Asn462Tyr) n.1782A>T c.1204A>T (p.Asn402Tyr) c.1189A>T (p.Asn397Tyr) | |
| 16 | g.56983389A>C | CA396008307 | CETP | c.1385A>C (p.Asn462Thr) n.1783A>C c.1205A>C (p.Asn402Thr) c.1190A>C (p.Asn397Thr) | |
| 16 | g.56983389A>G | CA396008309 | CETP | c.1385A>G (p.Asn462Ser) n.1783A>G c.1205A>G (p.Asn402Ser) c.1190A>G (p.Asn397Ser) | |
| 16 | g.56983389A>T | CA396008310 | CETP | c.1385A>T (p.Asn462Ile) n.1783A>T c.1205A>T (p.Asn402Ile) c.1190A>T (p.Asn397Ile) | |
| 16 | g.56983390C>A | CA396008312 | CETP | c.1386C>A (p.Asn462Lys) n.1784C>A c.1206C>A (p.Asn402Lys) c.1191C>A (p.Asn397Lys) | |
| 16 | g.56983390C>G | CA396008313 | CETP | c.1386C>G (p.Asn462Lys) n.1784C>G c.1206C>G (p.Asn402Lys) c.1191C>G (p.Asn397Lys) | |
| 16 | g.56983390C>T | CA495622607 | CETP | c.1386C>T (p.Asn462=) n.1784C>T c.1206C>T (p.Asn402=) c.1191C>T (p.Asn397=) | |
| 16 | g.56983391C>A | CA396008315 | CETP | c.1387C>A (p.Pro463Thr) n.1785C>A c.1207C>A (p.Pro403Thr) c.1192C>A (p.Pro398Thr) | |
| 16 | g.56983391C= | CA2224402563 | CETP | c.1387C= (p.Pro463=) n.1785C= c.1207C= (p.Pro403=) c.1192C= (p.Pro398=) | |
| 16 | g.56983391C>G | CA396008316 | CETP | c.1387C>G (p.Pro463Ala) n.1785C>G c.1207C>G (p.Pro403Ala) c.1192C>G (p.Pro398Ala) | dbSNP |
| 16 | g.56983391C>T | CA396008318 | CETP | c.1387C>T (p.Pro463Ser) n.1785C>T c.1207C>T (p.Pro403Ser) c.1192C>T (p.Pro398Ser) | dbSNP |
| 16 | g.56983392C>A | CA396008319 | CETP | c.1388C>A (p.Pro463His) n.1786C>A c.1208C>A (p.Pro403His) c.1193C>A (p.Pro398His) | |
| 16 | g.56983392C>G | CA396008320 | CETP | c.1388C>G (p.Pro463Arg) n.1786C>G c.1208C>G (p.Pro403Arg) c.1193C>G (p.Pro398Arg) | |
| 16 | g.56983392C>T | CA396008322 | CETP | c.1388C>T (p.Pro463Leu) n.1786C>T c.1208C>T (p.Pro403Leu) c.1193C>T (p.Pro398Leu) | |
| 16 | g.56983393T>A | CA495622618 | CETP | c.1389T>A (p.Pro463=) c.1209T>A (p.Pro403=) c.1194T>A (p.Pro398=) | |
| 16 | g.56983393T>C | CA495622620 | CETP | c.1389T>C (p.Pro463=) c.1209T>C (p.Pro403=) c.1194T>C (p.Pro398=) | gnomAD v4 |
| 16 | g.56983393T>G | CA495622622 | CETP | c.1389T>G (p.Pro463=) c.1209T>G (p.Pro403=) c.1194T>G (p.Pro398=) | gnomAD v4 |
| 16 | g.56983394G>A | CA396008323 | CETP | c.1390G>A (p.Glu464Lys) c.1210G>A (p.Glu404Lys) c.1195G>A (p.Glu399Lys) | |
| 16 | g.56983394G>C | CA396008325 | CETP | c.1390G>C (p.Glu464Gln) c.1210G>C (p.Glu404Gln) c.1195G>C (p.Glu399Gln) | |
| 16 | g.56983394G>T | CA396008324 | CETP | c.1390G>T (p.Glu464Ter) c.1210G>T (p.Glu404Ter) c.1195G>T (p.Glu399Ter) | |
| 16 | g.56983395A>C | CA396008326 | CETP | c.1391A>C (p.Glu464Ala) c.1211A>C (p.Glu404Ala) c.1196A>C (p.Glu399Ala) | COSMIC |
| 16 | g.56983395A>G | CA396008328 | CETP | c.1391A>G (p.Glu464Gly) c.1211A>G (p.Glu404Gly) c.1196A>G (p.Glu399Gly) | |
| 16 | g.56983395A>T | CA396008327 | CETP | c.1391A>T (p.Glu464Val) c.1211A>T (p.Glu404Val) c.1196A>T (p.Glu399Val) | |
| 16 | g.56983396G>A | CA495622638 | CETP | c.1392G>A (p.Glu464=) c.1212G>A (p.Glu404=) c.1197G>A (p.Glu399=) | |
| 16 | g.56983396G>C | CA396008329 | CETP | c.1392G>C (p.Glu464Asp) c.1212G>C (p.Glu404Asp) c.1197G>C (p.Glu399Asp) | |
| 16 | g.56983396G>T | CA396008330 | CETP | c.1392G>T (p.Glu464Asp) c.1212G>T (p.Glu404Asp) c.1197G>T (p.Glu399Asp) | |
| 16 | g.56983397del | CA2576003078 | CETP | c.1393del (p.Ile465LeufsTer28) c.1213del (p.Ile405LeufsTer28) c.1198del (p.Ile400LeufsTer28) | gnomAD v4 |
| 16 | g.56983397A= | CA2224402564 | CETP | c.1393A= (p.Ile465=) c.1213A= (p.Ile405=) c.1198A= (p.Ile400=) | |
| 16 | g.56983397A>C | CA396008331 | CETP | c.1393A>C (p.Ile465Leu) c.1213A>C (p.Ile405Leu) c.1198A>C (p.Ile400Leu) | |
| 16 | g.56983397A>G | CA396008332 | CETP | c.1393A>G (p.Ile465Val) c.1213A>G (p.Ile405Val) c.1198A>G (p.Ile400Val) | |
| 16 | g.56983397A>T | CA396008333 | CETP | c.1393A>T (p.Ile465Phe) c.1213A>T (p.Ile405Phe) c.1198A>T (p.Ile400Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56983398T>A | CA396008334 | CETP | c.1394T>A (p.Ile465Asn) c.1214T>A (p.Ile405Asn) c.1199T>A (p.Ile400Asn) |