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.43349307A= | CA1165579968 | MPL | c.1513A= (p.Ser505=) c.1492A= (p.Ser498=) n.1513A= c.45A= c.1684A= (p.Ser562=) | |
| 1 | g.43349307A>C | CA339987733 | MPL | c.1513A>C (p.Ser505Arg) c.1492A>C (p.Ser498Arg) n.1513A>C c.45A>C c.1684A>C (p.Ser562Arg) | ClinVar dbSNP |
| 1 | g.43349307A>G | CA339987744 | MPL | c.1513A>G (p.Ser505Gly) c.1492A>G (p.Ser498Gly) n.1513A>G c.45A>G c.1684A>G (p.Ser562Gly) | dbSNP gnomAD v2 |
| 1 | g.43349307A>T | CA16602498 | MPL | c.1513A>T (p.Ser505Cys) c.1492A>T (p.Ser498Cys) n.1513A>T c.45A>T c.1684A>T (p.Ser562Cys) | ClinVar dbSNP COSMIC |
| 1 | g.43349308G>A | CA123790 | MPL | c.1514G>A (p.Ser505Asn) c.1493G>A (p.Ser498Asn) n.1514G>A c.46G>A c.1685G>A (p.Ser562Asn) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.43349308G>C | CA339987752 | MPL | c.1514G>C (p.Ser505Thr) c.1493G>C (p.Ser498Thr) n.1514G>C c.46G>C c.1685G>C (p.Ser562Thr) | |
| 1 | g.43349308G= | CA1141580750 | MPL | c.1514G= (p.Ser505=) c.1493G= (p.Ser498=) n.1514G= c.46G= c.1685G= (p.Ser562=) | |
| 1 | g.43349308G>T | CA339987749 | MPL | c.1514G>T (p.Ser505Ile) c.1493G>T (p.Ser498Ile) n.1514G>T c.46G>T c.1685G>T (p.Ser562Ile) | gnomAD v4 |
| 1 | g.43349308_43349311delinsACGT | CA2573335035 | MPL | c.1514_1517delinsACGT (p.Ser505_Ala506delinsAsnVal) c.1493_1496delinsACGT (p.Ser498_Ala499delinsAsnVal) n.1514_1517delinsACGT c.46_49delinsACGT c.1685_1688delinsACGT (p.Ser562_Ala563delinsAsnVal) | |
| 1 | g.43349310_43349328del | CA2645226576 | MPL | c.1516_1534del (p.Ala506CysfsTer2) c.1495_1513del (p.Ala499CysfsTer2) n.1516_1534del c.48_66del c.1687_1705del (p.Ala563CysfsTer2) | gnomAD v4 |
| 1 | g.43349309C>A | CA339987755 | MPL | c.1515C>A (p.Ser505Arg) c.1494C>A (p.Ser498Arg) n.1515C>A c.47C>A c.1686C>A (p.Ser562Arg) | |
| 1 | g.43349309C>G | CA339987760 | MPL | c.1515C>G (p.Ser505Arg) c.1494C>G (p.Ser498Arg) n.1515C>G c.47C>G c.1686C>G (p.Ser562Arg) | |
| 1 | g.43349309C>T | CA417547132 | MPL | c.1515C>T (p.Ser505=) c.1494C>T (p.Ser498=) n.1515C>T c.47C>T c.1686C>T (p.Ser562=) | dbSNP |
| 1 | g.43349310G>A | CA806926 | MPL | c.1516G>A (p.Ala506Thr) c.1495G>A (p.Ala499Thr) n.1516G>A c.48G>A c.1687G>A (p.Ala563Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.43349310G>C | CA339987779 | MPL | c.1516G>C (p.Ala506Pro) c.1495G>C (p.Ala499Pro) n.1516G>C c.48G>C c.1687G>C (p.Ala563Pro) | |
| 1 | g.43349310G= | CA1165579987 | MPL | c.1516G= (p.Ala506=) c.1495G= (p.Ala499=) n.1516G= c.48G= c.1687G= (p.Ala563=) | |
| 1 | g.43349310G>T | CA339987781 | MPL | c.1516G>T (p.Ala506Ser) c.1495G>T (p.Ala499Ser) n.1516G>T c.48G>T c.1687G>T (p.Ala563Ser) | |
| 1 | g.43349311C>A | CA339987793 | MPL | c.1517C>A (p.Ala506Asp) c.1496C>A (p.Ala499Asp) n.1517C>A c.49C>A c.1688C>A (p.Ala563Asp) | |
| 1 | g.43349311C>G | CA339987802 | MPL | c.1517C>G (p.Ala506Gly) c.1496C>G (p.Ala499Gly) n.1517C>G c.49C>G c.1688C>G (p.Ala563Gly) | |
| 1 | g.43349311C>T | CA339987807 | MPL | c.1517C>T (p.Ala506Val) c.1496C>T (p.Ala499Val) n.1517C>T c.49C>T c.1688C>T (p.Ala563Val) | gnomAD v4 |
| 1 | g.43349312C>A | CA417547138 | MPL | c.1518C>A (p.Ala506=) c.1497C>A (p.Ala499=) n.1518C>A c.50C>A c.1689C>A (p.Ala563=) | dbSNP |
| 1 | g.43349312C= | CA1165579989 | MPL | c.1518C= (p.Ala506=) c.1497C= (p.Ala499=) n.1518C= c.50C= c.1689C= (p.Ala563=) | |
| 1 | g.43349312C>G | CA417547139 | MPL | c.1518C>G (p.Ala506=) c.1497C>G (p.Ala499=) n.1518C>G c.50C>G c.1689C>G (p.Ala563=) | |
| 1 | g.43349312C>T | CA806927 | MPL | c.1518C>T (p.Ala506=) c.1497C>T (p.Ala499=) n.1518C>T c.50C>T c.1689C>T (p.Ala563=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43349313G>A | CA21612462 | MPL | c.1519G>A (p.Val507Ile) c.1498G>A (p.Val500Ile) n.1519G>A c.51G>A c.1690G>A (p.Val564Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.43349313G>C | CA339987824 | MPL | c.1519G>C (p.Val507Leu) c.1498G>C (p.Val500Leu) n.1519G>C c.51G>C c.1690G>C (p.Val564Leu) | dbSNP |
| 1 | g.43349313G= | CA1165579994 | MPL | c.1519G= (p.Val507=) c.1498G= (p.Val500=) n.1519G= c.51G= c.1690G= (p.Val564=) | |
| 1 | g.43349313G>T | CA339987825 | MPL | c.1519G>T (p.Val507Phe) c.1498G>T (p.Val500Phe) n.1519G>T c.51G>T c.1690G>T (p.Val564Phe) | |
| 1 | g.43349314T>A | CA339987835 | MPL | c.1520T>A (p.Val507Asp) c.1499T>A (p.Val500Asp) n.1520T>A c.52T>A c.1691T>A (p.Val564Asp) | |
| 1 | g.43349314T>C | CA339987833 | MPL | c.1520T>C (p.Val507Ala) c.1499T>C (p.Val500Ala) n.1520T>C c.52T>C c.1691T>C (p.Val564Ala) | |
| 1 | g.43349314T>G | CA339987831 | MPL | c.1520T>G (p.Val507Gly) c.1499T>G (p.Val500Gly) n.1520T>G c.52T>G c.1691T>G (p.Val564Gly) | |
| 1 | g.43349315C>A | CA417547144 | MPL | c.1521C>A (p.Val507=) c.1500C>A (p.Val500=) n.1521C>A c.53C>A c.1692C>A (p.Val564=) | |
| 1 | g.43349315C= | CA1165579998 | MPL | c.1521C= (p.Val507=) c.1500C= (p.Val500=) n.1521C= c.53C= c.1692C= (p.Val564=) | |
| 1 | g.43349315C>G | CA417547145 | MPL | c.1521C>G (p.Val507=) c.1500C>G (p.Val500=) n.1521C>G c.53C>G c.1692C>G (p.Val564=) | |
| 1 | g.43349315C>T | CA806928 | MPL | c.1521C>T (p.Val507=) c.1500C>T (p.Val500=) n.1521C>T c.53C>T c.1692C>T (p.Val564=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43349316C>A | CA339987854 | MPL | c.1522C>A (p.Leu508Met) c.1501C>A (p.Leu501Met) n.1522C>A c.54C>A c.1693C>A (p.Leu565Met) | dbSNP |
| 1 | g.43349316C>G | CA339987852 | MPL | c.1522C>G (p.Leu508Val) c.1501C>G (p.Leu501Val) n.1522C>G c.54C>G c.1693C>G (p.Leu565Val) | |
| 1 | g.43349316C>T | CA417547148 | MPL | c.1522C>T (p.Leu508=) c.1501C>T (p.Leu501=) n.1522C>T c.54C>T c.1693C>T (p.Leu565=) | |
| 1 | g.43349317T>A | CA339987855 | MPL | c.1523T>A (p.Leu508Gln) c.1502T>A (p.Leu501Gln) n.1523T>A c.55T>A c.1694T>A (p.Leu565Gln) | |
| 1 | g.43349317T>C | CA339987856 | MPL | c.1523T>C (p.Leu508Pro) c.1502T>C (p.Leu501Pro) n.1523T>C c.55T>C c.1694T>C (p.Leu565Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43349317T>G | CA339987859 | MPL | c.1523T>G (p.Leu508Arg) c.1502T>G (p.Leu501Arg) n.1523T>G c.55T>G c.1694T>G (p.Leu565Arg) | |
| 1 | g.43349317T= | CA1165580005 | MPL | c.1523T= (p.Leu508=) c.1502T= (p.Leu501=) n.1523T= c.55T= c.1694T= (p.Leu565=) | |
| 1 | g.43349317dup | CA2740090671 | MPL | c.1523dup (p.Leu510ProfsTer?) c.1502dup (p.Leu503ProfsTer?) n.1523dup c.55dup c.1694dup (p.Leu567ProfsTer?) | ClinVar |
| 1 | g.43349318G>A | CA417547149 | MPL | c.1524G>A (p.Leu508=) c.1503G>A (p.Leu501=) n.1524G>A c.56G>A c.1695G>A (p.Leu565=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43349318G>C | CA417547152 | MPL | c.1524G>C (p.Leu508=) c.1503G>C (p.Leu501=) n.1524G>C c.56G>C c.1695G>C (p.Leu565=) | |
| 1 | g.43349318G= | CA1165580007 | MPL | c.1524G= (p.Leu508=) c.1503G= (p.Leu501=) n.1524G= c.56G= c.1695G= (p.Leu565=) | |
| 1 | g.43349318G>T | CA417547154 | MPL | c.1524G>T (p.Leu508=) c.1503G>T (p.Leu501=) n.1524G>T c.56G>T c.1695G>T (p.Leu565=) | COSMIC COSMIC |
| 1 | g.43349320del | CA2645226577 | MPL | c.1526del (p.Gly509AlafsTer5) c.1505del (p.Gly502AlafsTer5) n.1526del c.58del c.1697del (p.Gly566AlafsTer5) | gnomAD v4 |
| 1 | g.43349319G>A | CA339987866 | MPL | c.1525G>A (p.Gly509Ser) c.1504G>A (p.Gly502Ser) n.1525G>A c.57G>A c.1696G>A (p.Gly566Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43349319G>C | CA339987879 | MPL | c.1525G>C (p.Gly509Arg) c.1504G>C (p.Gly502Arg) n.1525G>C c.57G>C c.1696G>C (p.Gly566Arg) | gnomAD v4 |