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 |
|---|---|---|---|---|---|
| 1 | g.53213275G>A | CA254607 | CPT2 | c.1657G>A (p.Asp553Asn) c.1624G>A (p.Asp542Asn) c.*1643G>A (n.*1643G>A) c.*1304G>A (n.*1304G>A) c.1588G>A (p.Asp530Asn) c.1707G>A (p.Leu569=) c.352G>A (p.Asp118Asn) c.1693G>A (p.Asp565Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.53213275G>C | CA340397380 | CPT2 | c.1657G>C (p.Asp553His) c.1624G>C (p.Asp542His) c.*1643G>C (n.*1643G>C) c.*1304G>C (n.*1304G>C) c.1588G>C (p.Asp530His) c.1707G>C (p.Leu569Phe) c.352G>C (p.Asp118His) c.1693G>C (p.Asp565His) | |
| 1 | g.53213275G= | CA1140495625 | CPT2 | c.1657G= (p.Asp553=) c.1624G= (p.Asp542=) c.*1643G= (n.*1643G=) c.*1304G= (n.*1304G=) c.1588G= (p.Asp530=) c.1707G= (p.Leu569=) c.352G= (p.Asp118=) c.1693G= (p.Asp565=) | |
| 1 | g.53213275G>T | CA340397381 | CPT2 | c.1657G>T (p.Asp553Tyr) c.1624G>T (p.Asp542Tyr) c.*1643G>T (n.*1643G>T) c.*1304G>T (n.*1304G>T) c.1588G>T (p.Asp530Tyr) c.1707G>T (p.Leu569Phe) c.352G>T (p.Asp118Tyr) c.1693G>T (p.Asp565Tyr) | gnomAD v4 |
| 1 | g.53213276A>C | CA340397382 | CPT2 | c.1658A>C (p.Asp553Ala) c.1625A>C (p.Asp542Ala) c.*1644A>C (n.*1644A>C) c.*1305A>C (n.*1305A>C) c.1589A>C (p.Asp530Ala) c.1708A>C (p.Thr570Pro) c.353A>C (p.Asp118Ala) c.1694A>C (p.Asp565Ala) | |
| 1 | g.53213276A>G | CA340397383 | CPT2 | c.1658A>G (p.Asp553Gly) c.1625A>G (p.Asp542Gly) c.*1644A>G (n.*1644A>G) c.*1305A>G (n.*1305A>G) c.1589A>G (p.Asp530Gly) c.1708A>G (p.Thr570Ala) c.353A>G (p.Asp118Gly) c.1694A>G (p.Asp565Gly) | |
| 1 | g.53213276A>T | CA340397384 | CPT2 | c.1658A>T (p.Asp553Val) c.1625A>T (p.Asp542Val) c.*1644A>T (n.*1644A>T) c.*1305A>T (n.*1305A>T) c.1589A>T (p.Asp530Val) c.1708A>T (p.Thr570Ser) c.353A>T (p.Asp118Val) c.1694A>T (p.Asp565Val) | |
| 1 | g.53213277C>A | CA340397385 | CPT2 | c.1659C>A (p.Asp553Glu) c.1626C>A (p.Asp542Glu) c.*1645C>A (n.*1645C>A) c.*1306C>A (n.*1306C>A) c.1590C>A (p.Asp530Glu) c.1709C>A (p.Thr570Asn) c.354C>A (p.Asp118Glu) c.1695C>A (p.Asp565Glu) | gnomAD v4 |
| 1 | g.53213277C>G | CA340397386 | CPT2 | c.1659C>G (p.Asp553Glu) c.1626C>G (p.Asp542Glu) c.*1645C>G (n.*1645C>G) c.*1306C>G (n.*1306C>G) c.1590C>G (p.Asp530Glu) c.1709C>G (p.Thr570Ser) c.354C>G (p.Asp118Glu) c.1695C>G (p.Asp565Glu) | gnomAD v4 |
| 1 | g.53213277C>T | CA417875017 | CPT2 | c.1659C>T (p.Asp553=) c.1626C>T (p.Asp542=) c.*1645C>T (n.*1645C>T) c.*1306C>T (n.*1306C>T) c.1590C>T (p.Asp530=) c.1709C>T (p.Thr570Ile) c.354C>T (p.Asp118=) c.1695C>T (p.Asp565=) | gnomAD v4 |
| 1 | g.53213278C>A | CA417875018 | CPT2 | c.1660C>A (p.Arg554=) c.1627C>A (p.Arg543=) c.*1646C>A (n.*1646C>A) c.*1307C>A (n.*1307C>A) c.1591C>A (p.Arg531=) c.1710C>A (p.Thr570=) c.355C>A (p.Arg119=) c.1696C>A (p.Arg566=) | gnomAD v4 |
| 1 | g.53213278C= | CA1145148074 | CPT2 | c.1660C= (p.Arg554=) c.1627C= (p.Arg543=) c.*1646C= (n.*1646C=) c.*1307C= (n.*1307C=) c.1591C= (p.Arg531=) c.1710C= (p.Thr570=) c.355C= (p.Arg119=) c.1696C= (p.Arg566=) | |
| 1 | g.53213278C>G | CA340397387 | CPT2 | c.1660C>G (p.Arg554Gly) c.1627C>G (p.Arg543Gly) c.*1646C>G (n.*1646C>G) c.*1307C>G (n.*1307C>G) c.1591C>G (p.Arg531Gly) c.1710C>G (p.Thr570=) c.355C>G (p.Arg119Gly) c.1696C>G (p.Arg566Gly) | |
| 1 | g.53213278C>T | CA859257 | CPT2 | c.1660C>T (p.Arg554Ter) c.1627C>T (p.Arg543Ter) c.*1646C>T (n.*1646C>T) c.*1307C>T (n.*1307C>T) c.1591C>T (p.Arg531Ter) c.1710C>T (p.Thr570=) c.355C>T (p.Arg119Ter) c.1696C>T (p.Arg566Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213279G>A | CA859258 | CPT2 | c.1661G>A (p.Arg554Gln) c.1628G>A (p.Arg543Gln) c.*1647G>A (n.*1647G>A) c.*1308G>A (n.*1308G>A) c.1592G>A (p.Arg531Gln) c.1711G>A (p.Asp571Asn) c.356G>A (p.Arg119Gln) c.1697G>A (p.Arg566Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213279G>C | CA340397389 | CPT2 | c.1661G>C (p.Arg554Pro) c.1628G>C (p.Arg543Pro) c.*1647G>C (n.*1647G>C) c.*1308G>C (n.*1308G>C) c.1592G>C (p.Arg531Pro) c.1711G>C (p.Asp571His) c.356G>C (p.Arg119Pro) c.1697G>C (p.Arg566Pro) | |
| 1 | g.53213279G= | CA1143554726 | CPT2 | c.1661G= (p.Arg554=) c.1628G= (p.Arg543=) c.*1647G= (n.*1647G=) c.*1308G= (n.*1308G=) c.1592G= (p.Arg531=) c.1711G= (p.Asp571=) c.356G= (p.Arg119=) c.1697G= (p.Arg566=) | |
| 1 | g.53213279G>T | CA340397388 | CPT2 | c.1661G>T (p.Arg554Leu) c.1628G>T (p.Arg543Leu) c.*1647G>T (n.*1647G>T) c.*1308G>T (n.*1308G>T) c.1592G>T (p.Arg531Leu) c.1711G>T (p.Asp571Tyr) c.356G>T (p.Arg119Leu) c.1697G>T (p.Arg566Leu) | gnomAD v4 |
| 1 | g.53213280A>C | CA417875019 | CPT2 | c.1662A>C (p.Arg554=) c.1629A>C (p.Arg543=) c.*1648A>C (n.*1648A>C) c.*1309A>C (n.*1309A>C) c.1593A>C (p.Arg531=) c.1712A>C (p.Asp571Ala) c.357A>C (p.Arg119=) c.1698A>C (p.Arg566=) | |
| 1 | g.53213280A>G | CA417875020 | CPT2 | c.1662A>G (p.Arg554=) c.1629A>G (p.Arg543=) c.*1648A>G (n.*1648A>G) c.*1309A>G (n.*1309A>G) c.1593A>G (p.Arg531=) c.1712A>G (p.Asp571Gly) c.357A>G (p.Arg119=) c.1698A>G (p.Arg566=) | ClinVar |
| 1 | g.53213280A>T | CA417875021 | CPT2 | c.1662A>T (p.Arg554=) c.1629A>T (p.Arg543=) c.*1648A>T (n.*1648A>T) c.*1309A>T (n.*1309A>T) c.1593A>T (p.Arg531=) c.1712A>T (p.Asp571Val) c.357A>T (p.Arg119=) c.1698A>T (p.Arg566=) | |
| 1 | g.53213281C>A | CA340397390 | CPT2 | c.1663C>A (p.His555Asn) c.1630C>A (p.His544Asn) c.*1649C>A (n.*1649C>A) c.*1310C>A (n.*1310C>A) c.1594C>A (p.His532Asn) c.1713C>A (p.Asp571Glu) c.358C>A (p.His120Asn) c.1699C>A (p.His567Asn) | |
| 1 | g.53213281C= | CA1167216291 | CPT2 | c.1663C= (p.His555=) c.1630C= (p.His544=) c.*1649C= (n.*1649C=) c.*1310C= (n.*1310C=) c.1594C= (p.His532=) c.1713C= (p.Asp571=) c.358C= (p.His120=) c.1699C= (p.His567=) | |
| 1 | g.53213281C>G | CA859259 | CPT2 | c.1663C>G (p.His555Asp) c.1630C>G (p.His544Asp) c.*1649C>G (n.*1649C>G) c.*1310C>G (n.*1310C>G) c.1594C>G (p.His532Asp) c.1713C>G (p.Asp571Glu) c.358C>G (p.His120Asp) c.1699C>G (p.His567Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.53213281C>T | CA340397391 | CPT2 | c.1663C>T (p.His555Tyr) c.1630C>T (p.His544Tyr) c.*1649C>T (n.*1649C>T) c.*1310C>T (n.*1310C>T) c.1594C>T (p.His532Tyr) c.1713C>T (p.Asp571=) c.358C>T (p.His120Tyr) c.1699C>T (p.His567Tyr) | |
| 1 | g.53213282A>C | CA340397392 | CPT2 | c.1664A>C (p.His555Pro) c.1631A>C (p.His544Pro) c.*1650A>C (n.*1650A>C) c.*1311A>C (n.*1311A>C) c.1595A>C (p.His532Pro) c.1714A>C (p.Thr572Pro) c.359A>C (p.His120Pro) c.1700A>C (p.His567Pro) | |
| 1 | g.53213282A>G | CA340397393 | CPT2 | c.1664A>G (p.His555Arg) c.1631A>G (p.His544Arg) c.*1650A>G (n.*1650A>G) c.*1311A>G (n.*1311A>G) c.1595A>G (p.His532Arg) c.1714A>G (p.Thr572Ala) c.359A>G (p.His120Arg) c.1700A>G (p.His567Arg) | gnomAD v4 |
| 1 | g.53213282A>T | CA340397394 | CPT2 | c.1664A>T (p.His555Leu) c.1631A>T (p.His544Leu) c.*1650A>T (n.*1650A>T) c.*1311A>T (n.*1311A>T) c.1595A>T (p.His532Leu) c.1714A>T (p.Thr572Ser) c.359A>T (p.His120Leu) c.1700A>T (p.His567Leu) | |
| 1 | g.53213283C>A | CA340397395 | CPT2 | c.1665C>A (p.His555Gln) c.1632C>A (p.His544Gln) c.*1651C>A (n.*1651C>A) c.*1312C>A (n.*1312C>A) c.1596C>A (p.His532Gln) c.1715C>A (p.Thr572Asn) c.360C>A (p.His120Gln) c.1701C>A (p.His567Gln) | |
| 1 | g.53213283C= | CA1167216292 | CPT2 | c.1665C= (p.His555=) c.1632C= (p.His544=) c.*1651C= (n.*1651C=) c.*1312C= (n.*1312C=) c.1596C= (p.His532=) c.1715C= (p.Thr572=) c.360C= (p.His120=) c.1701C= (p.His567=) | |
| 1 | g.53213283C>G | CA340397396 | CPT2 | c.1665C>G (p.His555Gln) c.1632C>G (p.His544Gln) c.*1651C>G (n.*1651C>G) c.*1312C>G (n.*1312C>G) c.1596C>G (p.His532Gln) c.1715C>G (p.Thr572Ser) c.360C>G (p.His120Gln) c.1701C>G (p.His567Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.53213283C>T | CA417875022 | CPT2 | c.1665C>T (p.His555=) c.1632C>T (p.His544=) c.*1651C>T (n.*1651C>T) c.*1312C>T (n.*1312C>T) c.1596C>T (p.His532=) c.1715C>T (p.Thr572Ile) c.360C>T (p.His120=) c.1701C>T (p.His567=) | |
| 1 | g.53213283_53213285delinsCTT | CA1167216293 | CPT2 | c.1665_1667delinsCTT (p.His555=) c.1632_1634delinsCTT (p.His544=) c.*1651_*1653delinsCTT (n.*1651_*1653delinsCTT) c.*1312_*1314delinsCTT (n.*1312_*1314delinsCTT) c.1596_1598delinsCTT (p.His532=) c.1715_1717delinsCTT (p.Thr572=) c.360_362delinsCTT (p.His120=) c.1701_1703delinsCTT (p.His567=) | |
| 1 | g.53213284T>A | CA340397397 | CPT2 | c.1666T>A (p.Leu556Met) c.1633T>A (p.Leu545Met) c.*1652T>A (n.*1652T>A) c.*1313T>A (n.*1313T>A) c.1597T>A (p.Leu533Met) c.1716T>A (p.Thr572=) c.361T>A (p.Leu121Met) c.1702T>A (p.Leu568Met) | |
| 1 | g.53213284T>C | CA417875023 | CPT2 | c.1666T>C (p.Leu556=) c.1633T>C (p.Leu545=) c.*1652T>C (n.*1652T>C) c.*1313T>C (n.*1313T>C) c.1597T>C (p.Leu533=) c.1716T>C (p.Thr572=) c.361T>C (p.Leu121=) c.1702T>C (p.Leu568=) | |
| 1 | g.53213284T>G | CA340397398 | CPT2 | c.1666T>G (p.Leu556Val) c.1633T>G (p.Leu545Val) c.*1652T>G (n.*1652T>G) c.*1313T>G (n.*1313T>G) c.1597T>G (p.Leu533Val) c.1716T>G (p.Thr572=) c.361T>G (p.Leu121Val) c.1702T>G (p.Leu568Val) | ClinVar dbSNP |
| 1 | g.53213284T= | CA1167216294 | CPT2 | c.1666T= (p.Leu556=) c.1633T= (p.Leu545=) c.*1652T= (n.*1652T=) c.*1313T= (n.*1313T=) c.1597T= (p.Leu533=) c.1716T= (p.Thr572=) c.361T= (p.Leu121=) c.1702T= (p.Leu568=) | |
| 1 | g.53213284_53213285del | CA523273504 | CPT2 | c.1666_1667del (p.Leu556ValfsTer16) c.1633_1634del (p.Leu545ValfsTer16) c.*1652_*1653del (n.*1652_*1653del) c.*1313_*1314del (n.*1313_*1314del) c.1597_1598del (p.Leu533ValfsTer16) c.1716_1717del (p.Cys573PhefsTer?) c.361_362del (p.Leu121ValfsTer16) c.1702_1703del (p.Leu568ValfsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53213285T>A | CA340397399 | CPT2 | c.1667T>A (p.Leu556Ter) c.1634T>A (p.Leu545Ter) c.*1653T>A (n.*1653T>A) c.*1314T>A (n.*1314T>A) c.1598T>A (p.Leu533Ter) c.1717T>A (p.Cys573Ser) c.362T>A (p.Leu121Ter) c.1703T>A (p.Leu568Ter) | |
| 1 | g.53213285T>C | CA340397400 | CPT2 | c.1667T>C (p.Leu556Ser) c.1634T>C (p.Leu545Ser) c.*1653T>C (n.*1653T>C) c.*1314T>C (n.*1314T>C) c.1598T>C (p.Leu533Ser) c.1717T>C (p.Cys573Arg) c.362T>C (p.Leu121Ser) c.1703T>C (p.Leu568Ser) | |
| 1 | g.53213285T>G | CA340397401 | CPT2 | c.1667T>G (p.Leu556Trp) c.1634T>G (p.Leu545Trp) c.*1653T>G (n.*1653T>G) c.*1314T>G (n.*1314T>G) c.1598T>G (p.Leu533Trp) c.1717T>G (p.Cys573Gly) c.362T>G (p.Leu121Trp) c.1703T>G (p.Leu568Trp) | |
| 1 | g.53213286G>A | CA417875024 | CPT2 | c.1668G>A (p.Leu556=) c.1635G>A (p.Leu545=) c.*1654G>A (n.*1654G>A) c.*1315G>A (n.*1315G>A) c.1599G>A (p.Leu533=) c.1718G>A (p.Cys573Tyr) c.363G>A (p.Leu121=) c.1704G>A (p.Leu568=) | |
| 1 | g.53213286G>C | CA340397402 | CPT2 | c.1668G>C (p.Leu556Phe) c.1635G>C (p.Leu545Phe) c.*1654G>C (n.*1654G>C) c.*1315G>C (n.*1315G>C) c.1599G>C (p.Leu533Phe) c.1718G>C (p.Cys573Ser) c.363G>C (p.Leu121Phe) c.1704G>C (p.Leu568Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.53213286G= | CA1167216295 | CPT2 | c.1668G= (p.Leu556=) c.1635G= (p.Leu545=) c.*1654G= (n.*1654G=) c.*1315G= (n.*1315G=) c.1599G= (p.Leu533=) c.1718G= (p.Cys573=) c.363G= (p.Leu121=) c.1704G= (p.Leu568=) | |
| 1 | g.53213286G>T | CA340397403 | CPT2 | c.1668G>T (p.Leu556Phe) c.1635G>T (p.Leu545Phe) c.*1654G>T (n.*1654G>T) c.*1315G>T (n.*1315G>T) c.1599G>T (p.Leu533Phe) c.1718G>T (p.Cys573Phe) c.363G>T (p.Leu121Phe) c.1704G>T (p.Leu568Phe) | gnomAD v4 |
| 1 | g.53213287T>A | CA340397404 | CPT2 | c.1669T>A (p.Phe557Ile) c.1636T>A (p.Phe546Ile) c.*1655T>A (n.*1655T>A) c.*1316T>A (n.*1316T>A) c.1600T>A (p.Phe534Ile) c.1719T>A (p.Cys573Ter) c.364T>A (p.Phe122Ile) c.1705T>A (p.Phe569Ile) | |
| 1 | g.53213287T>C | CA340397405 | CPT2 | c.1669T>C (p.Phe557Leu) c.1636T>C (p.Phe546Leu) c.*1655T>C (n.*1655T>C) c.*1316T>C (n.*1316T>C) c.1600T>C (p.Phe534Leu) c.1719T>C (p.Cys573=) c.364T>C (p.Phe122Leu) c.1705T>C (p.Phe569Leu) | gnomAD v4 |
| 1 | g.53213287T>G | CA340397406 | CPT2 | c.1669T>G (p.Phe557Val) c.1636T>G (p.Phe546Val) c.*1655T>G (n.*1655T>G) c.*1316T>G (n.*1316T>G) c.1600T>G (p.Phe534Val) c.1719T>G (p.Cys573Trp) c.364T>G (p.Phe122Val) c.1705T>G (p.Phe569Val) | |
| 1 | g.53213288T>A | CA340397407 | CPT2 | c.1670T>A (p.Phe557Tyr) c.1637T>A (p.Phe546Tyr) c.*1656T>A (n.*1656T>A) c.*1317T>A (n.*1317T>A) c.1601T>A (p.Phe534Tyr) c.1720T>A (p.Leu574Met) c.365T>A (p.Phe122Tyr) c.1706T>A (p.Phe569Tyr) | ClinVar dbSNP |
| 1 | g.53213288T>C | CA340397408 | CPT2 | c.1670T>C (p.Phe557Ser) c.1637T>C (p.Phe546Ser) c.*1656T>C (n.*1656T>C) c.*1317T>C (n.*1317T>C) c.1601T>C (p.Phe534Ser) c.1720T>C (p.Leu574=) c.365T>C (p.Phe122Ser) c.1706T>C (p.Phe569Ser) |