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 |
|---|---|---|---|---|---|
| 19 | g.48875910dup | CA645613325 | PPP1R15A | c.*817dup (n.*817dup) c.1677dup (p.Thr560HisfsTer?) c.2010dup (p.Thr671HisfsTer?) c.1962dup (p.Thr655HisfsTer?) c.1593dup | COSMIC |
| 19 | g.48875910C>A | CA508079281 | PPP1R15A | c.*817C>A (n.*817C>A) c.1677C>A (p.Ala559=) c.2010C>A (p.Ala670=) c.1962C>A (p.Ala654=) c.1593C>A | |
| 19 | g.48875910C= | CA2340115839 | PPP1R15A | c.*817C= (n.*817C=) c.1677C= (p.Ala559=) c.2010C= (p.Ala670=) c.1962C= (p.Ala654=) c.1593C= | |
| 19 | g.48875910C>G | CA508079283 | PPP1R15A | c.*817C>G (n.*817C>G) c.1677C>G (p.Ala559=) c.2010C>G (p.Ala670=) c.1962C>G (p.Ala654=) c.1593C>G | gnomAD v4 |
| 19 | g.48875910C>T | CA9560457 | PPP1R15A | c.*817C>T (n.*817C>T) c.1677C>T (p.Ala559=) c.2010C>T (p.Ala670=) c.1962C>T (p.Ala654=) c.1593C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48875910_48875925delinsCACACCTTCCCGCTCG | CA2340115840 | PPP1R15A | c.*817_*832delinsCACACCTTCCCGCTCG (n.*817_*832delinsCACACCTTCCCGCTCG) c.1677_1692delinsCACACCTTCCCGCTCG (p.Ala559=) c.2010_2025delinsCACACCTTCCCGCTCG (p.Ala670=) c.1962_1977delinsCACACCTTCCCGCTCG (p.Ala654=) c.1593_1608delinsCACACCTTCCCGCTCG | |
| 19 | g.48875910_48875925delinsTACACCTTCCCGCTCC | CA309397652 | PPP1R15A | c.*817_*832delinsTACACCTTCCCGCTCC (n.*817_*832delinsTACACCTTCCCGCTCC) c.1677_1692delinsTACACCTTCCCGCTCC (p.Ala559=) c.2010_2025delinsTACACCTTCCCGCTCC (p.Ala670=) c.1962_1977delinsTACACCTTCCCGCTCC (p.Ala654=) c.1593_1608delinsTACACCTTCCCGCTCC | dbSNP |
| 19 | g.48875911A= | CA2340115841 | PPP1R15A | c.*818A= (n.*818A=) c.1678A= (p.Thr560=) c.2011A= (p.Thr671=) c.1963A= (p.Thr655=) c.1594A= | |
| 19 | g.48875911A>C | CA406758653 | PPP1R15A | c.*818A>C (n.*818A>C) c.1678A>C (p.Thr560Pro) c.2011A>C (p.Thr671Pro) c.1963A>C (p.Thr655Pro) c.1594A>C | |
| 19 | g.48875911A>G | CA406758654 | PPP1R15A | c.*818A>G (n.*818A>G) c.1678A>G (p.Thr560Ala) c.2011A>G (p.Thr671Ala) c.1963A>G (p.Thr655Ala) c.1594A>G | gnomAD v4 |
| 19 | g.48875911A>T | CA406758655 | PPP1R15A | c.*818A>T (n.*818A>T) c.1678A>T (p.Thr560Ser) c.2011A>T (p.Thr671Ser) c.1963A>T (p.Thr655Ser) c.1594A>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48875912C>A | CA406758656 | PPP1R15A | c.*819C>A (n.*819C>A) c.1679C>A (p.Thr560Lys) c.2012C>A (p.Thr671Lys) c.1964C>A (p.Thr655Lys) c.1595C>A | |
| 19 | g.48875912C= | CA2340115842 | PPP1R15A | c.*819C= (n.*819C=) c.1679C= (p.Thr560=) c.2012C= (p.Thr671=) c.1964C= (p.Thr655=) c.1595C= | |
| 19 | g.48875912C>G | CA406758657 | PPP1R15A | c.*819C>G (n.*819C>G) c.1679C>G (p.Thr560Arg) c.2012C>G (p.Thr671Arg) c.1964C>G (p.Thr655Arg) c.1595C>G | |
| 19 | g.48875912C>T | CA9560458 | PPP1R15A | c.*819C>T (n.*819C>T) c.1679C>T (p.Thr560Ile) c.2012C>T (p.Thr671Ile) c.1964C>T (p.Thr655Ile) c.1595C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48875913A>C | CA508079300 | PPP1R15A | c.*820A>C (n.*820A>C) c.1680A>C (p.Thr560=) c.2013A>C (p.Thr671=) c.1965A>C (p.Thr655=) c.1596A>C | |
| 19 | g.48875913A>G | CA508079295 | PPP1R15A | c.*820A>G (n.*820A>G) c.1680A>G (p.Thr560=) c.2013A>G (p.Thr671=) c.1965A>G (p.Thr655=) c.1596A>G | dbSNP |
| 19 | g.48875913A>T | CA508079298 | PPP1R15A | c.*820A>T (n.*820A>T) c.1680A>T (p.Thr560=) c.2013A>T (p.Thr671=) c.1965A>T (p.Thr655=) c.1596A>T | |
| 19 | g.48875914C>A | CA9560459 | PPP1R15A | c.*821C>A (n.*821C>A) c.1681C>A (p.Pro561Thr) c.2014C>A (p.Pro672Thr) c.1966C>A (p.Pro656Thr) c.1597C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48875914C= | CA2340115843 | PPP1R15A | c.*821C= (n.*821C=) c.1681C= (p.Pro561=) c.2014C= (p.Pro672=) c.1966C= (p.Pro656=) c.1597C= | |
| 19 | g.48875914C>G | CA406758658 | PPP1R15A | c.*821C>G (n.*821C>G) c.1681C>G (p.Pro561Ala) c.2014C>G (p.Pro672Ala) c.1966C>G (p.Pro656Ala) c.1597C>G | |
| 19 | g.48875914C>T | CA406758659 | PPP1R15A | c.*821C>T (n.*821C>T) c.1681C>T (p.Pro561Ser) c.2014C>T (p.Pro672Ser) c.1966C>T (p.Pro656Ser) c.1597C>T | gnomAD v4 |
| 19 | g.48875915C>A | CA406758660 | PPP1R15A | c.*822C>A (n.*822C>A) c.1682C>A (p.Pro561His) c.2015C>A (p.Pro672His) c.1967C>A (p.Pro656His) c.1598C>A | gnomAD v4 |
| 19 | g.48875915C= | CA2340115844 | PPP1R15A | c.*822C= (n.*822C=) c.1682C= (p.Pro561=) c.2015C= (p.Pro672=) c.1967C= (p.Pro656=) c.1598C= | |
| 19 | g.48875915C>G | CA406758661 | PPP1R15A | c.*822C>G (n.*822C>G) c.1682C>G (p.Pro561Arg) c.2015C>G (p.Pro672Arg) c.1967C>G (p.Pro656Arg) c.1598C>G | dbSNP |
| 19 | g.48875915C>T | CA9560460 | PPP1R15A | c.*822C>T (n.*822C>T) c.1682C>T (p.Pro561Leu) c.2015C>T (p.Pro672Leu) c.1967C>T (p.Pro656Leu) c.1598C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48875916T>A | CA508079323 | PPP1R15A | c.*823T>A (n.*823T>A) c.1683T>A (p.Pro561=) c.2016T>A (p.Pro672=) c.1968T>A (p.Pro656=) c.1599T>A | |
| 19 | g.48875916T>C | CA309397680 | PPP1R15A | c.*823T>C (n.*823T>C) c.1683T>C (p.Pro561=) c.2016T>C (p.Pro672=) c.1968T>C (p.Pro656=) c.1599T>C | dbSNP |
| 19 | g.48875916T>G | CA9560461 | PPP1R15A | c.*823T>G (n.*823T>G) c.1683T>G (p.Pro561=) c.2016T>G (p.Pro672=) c.1968T>G (p.Pro656=) c.1599T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48875916T= | CA2340115845 | PPP1R15A | c.*823T= (n.*823T=) c.1683T= (p.Pro561=) c.2016T= (p.Pro672=) c.1968T= (p.Pro656=) c.1599T= | |
| 19 | g.48875917T>A | CA406758662 | PPP1R15A | c.*824T>A (n.*824T>A) c.1684T>A (p.Ser562Thr) c.2017T>A (p.Ser673Thr) c.1969T>A (p.Ser657Thr) c.1600T>A | |
| 19 | g.48875917T>C | CA406758663 | PPP1R15A | c.*824T>C (n.*824T>C) c.1684T>C (p.Ser562Pro) c.2017T>C (p.Ser673Pro) c.1969T>C (p.Ser657Pro) c.1600T>C | |
| 19 | g.48875917T>G | CA406758664 | PPP1R15A | c.*824T>G (n.*824T>G) c.1684T>G (p.Ser562Ala) c.2017T>G (p.Ser673Ala) c.1969T>G (p.Ser657Ala) c.1600T>G | |
| 19 | g.48875917T= | CA2340115846 | PPP1R15A | c.*824T= (n.*824T=) c.1684T= (p.Ser562=) c.2017T= (p.Ser673=) c.1969T= (p.Ser657=) c.1600T= | |
| 19 | g.48875918C>A | CA406758667 | PPP1R15A | c.*825C>A (n.*825C>A) c.1685C>A (p.Ser562Tyr) c.2018C>A (p.Ser673Tyr) c.1970C>A (p.Ser657Tyr) c.1601C>A | |
| 19 | g.48875918C>G | CA406758666 | PPP1R15A | c.*825C>G (n.*825C>G) c.1685C>G (p.Ser562Cys) c.2018C>G (p.Ser673Cys) c.1970C>G (p.Ser657Cys) c.1601C>G | |
| 19 | g.48875918C>T | CA406758665 | PPP1R15A | c.*825C>T (n.*825C>T) c.1685C>T (p.Ser562Phe) c.2018C>T (p.Ser673Phe) c.1970C>T (p.Ser657Phe) c.1601C>T | |
| 19 | g.48875919_48875920dup | CA2340115847 | PPP1R15A | c.*826_*827dup (n.*826_*827dup) c.1686_1687dup (p.Arg563ProfsTer?) c.2019_2020dup (p.Arg674ProfsTer?) c.1971_1972dup (p.Arg658ProfsTer?) c.1602_1603dup | dbSNP |
| 19 | g.48875919C>A | CA508079342 | PPP1R15A | c.*826C>A (n.*826C>A) c.1686C>A (p.Ser562=) c.2019C>A (p.Ser673=) c.1971C>A (p.Ser657=) c.1602C>A | |
| 19 | g.48875919C= | CA2340115849 | PPP1R15A | c.*826C= (n.*826C=) c.1686C= (p.Ser562=) c.2019C= (p.Ser673=) c.1971C= (p.Ser657=) c.1602C= | |
| 19 | g.48875919C>G | CA508079347 | PPP1R15A | c.*826C>G (n.*826C>G) c.1686C>G (p.Ser562=) c.2019C>G (p.Ser673=) c.1971C>G (p.Ser657=) c.1602C>G | |
| 19 | g.48875919C>T | CA508079349 | PPP1R15A | c.*826C>T (n.*826C>T) c.1686C>T (p.Ser562=) c.2019C>T (p.Ser673=) c.1971C>T (p.Ser657=) c.1602C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48875919_48875921delinsCCG | CA2340115850 | PPP1R15A | c.*826_*828delinsCCG (n.*826_*828delinsCCG) c.1686_1688delinsCCG (p.Ser562=) c.2019_2021delinsCCG (p.Ser673=) c.1971_1973delinsCCG (p.Ser657=) c.1602_1604delinsCCG | |
| 19 | g.48875919_48875923delinsCCGCT | CA2340115851 | PPP1R15A | c.*826_*830delinsCCGCT (n.*826_*830delinsCCGCT) c.1686_1690delinsCCGCT (p.Ser562=) c.2019_2023delinsCCGCT (p.Ser673=) c.1971_1975delinsCCGCT (p.Ser657=) c.1602_1606delinsCCGCT | |
| 19 | g.48875919_48875926delinsCCGCTCGT | CA2340115848 | PPP1R15A | c.*826_*833delinsCCGCTCGT (n.*826_*833delinsCCGCTCGT) c.1686_1693delinsCCGCTCGT (p.Ser562=) c.2019_2026delinsCCGCTCGT (p.Ser673=) c.1971_1978delinsCCGCTCGT (p.Ser657=) c.1602_1609delinsCCGCTCGT | |
| 19 | g.48875920C>A | CA406758668 | PPP1R15A | c.*827C>A (n.*827C>A) c.1687C>A (p.Arg563Ser) c.2020C>A (p.Arg674Ser) c.1972C>A (p.Arg658Ser) c.1603C>A | COSMIC |
| 19 | g.48875920C= | CA2340115853 | PPP1R15A | c.*827C= (n.*827C=) c.1687C= (p.Arg563=) c.2020C= (p.Arg674=) c.1972C= (p.Arg658=) c.1603C= | |
| 19 | g.48875920C>G | CA406758669 | PPP1R15A | c.*827C>G (n.*827C>G) c.1687C>G (p.Arg563Gly) c.2020C>G (p.Arg674Gly) c.1972C>G (p.Arg658Gly) c.1603C>G | COSMIC |
| 19 | g.48875920C>T | CA9560462 | PPP1R15A | c.*827C>T (n.*827C>T) c.1687C>T (p.Arg563Cys) c.2020C>T (p.Arg674Cys) c.1972C>T (p.Arg658Cys) c.1603C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48875921_48875922del | CA996643518 | PPP1R15A | c.*828_*829del (n.*828_*829del) c.1688_1689del (p.Arg563LeufsTer27) c.2021_2022del (p.Arg674LeufsTer27) c.1973_1974del (p.Arg658LeufsTer27) c.1604_1605del | dbSNP gnomAD v3 gnomAD v4 |