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 |
|---|---|---|---|---|---|
| 5 | g.38955694G>A | CA3245106 | RICTOR | c.2510C>T (p.Ser837Phe) c.470C>T (p.Ser157Phe) c.2462C>T (p.Ser821Phe) n.470C>T c.*1734C>T (n.*1734C>T) c.1655C>T (p.Ser552Phe) c.2321C>T (p.Ser774Phe) c.2351C>T (p.Ser784Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955694G>C | CA359563828 | RICTOR | c.2510C>G (p.Ser837Cys) c.470C>G (p.Ser157Cys) c.2462C>G (p.Ser821Cys) n.470C>G c.*1734C>G (n.*1734C>G) c.1655C>G (p.Ser552Cys) c.2321C>G (p.Ser774Cys) c.2351C>G (p.Ser784Cys) | dbSNP gnomAD v4 |
| 5 | g.38955694G= | CA1540476112 | RICTOR | c.2510C= (p.Ser837=) c.470C= (p.Ser157=) c.2462C= (p.Ser821=) n.470C= c.*1734C= (n.*1734C=) c.1655C= (p.Ser552=) c.2321C= (p.Ser774=) c.2351C= (p.Ser784=) | |
| 5 | g.38955694G>T | CA3245107 | RICTOR | c.2510C>A (p.Ser837Tyr) c.470C>A (p.Ser157Tyr) c.2462C>A (p.Ser821Tyr) n.470C>A c.*1734C>A (n.*1734C>A) c.1655C>A (p.Ser552Tyr) c.2321C>A (p.Ser774Tyr) c.2351C>A (p.Ser784Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38955695A>C | CA359563831 | RICTOR | c.2509T>G (p.Ser837Ala) c.469T>G (p.Ser157Ala) c.2461T>G (p.Ser821Ala) n.469T>G c.*1733T>G (n.*1733T>G) c.1654T>G (p.Ser552Ala) c.2320T>G (p.Ser774Ala) c.2350T>G (p.Ser784Ala) | |
| 5 | g.38955695A>G | CA359563830 | RICTOR | c.2509T>C (p.Ser837Pro) c.469T>C (p.Ser157Pro) c.2461T>C (p.Ser821Pro) n.469T>C c.*1733T>C (n.*1733T>C) c.1654T>C (p.Ser552Pro) c.2320T>C (p.Ser774Pro) c.2350T>C (p.Ser784Pro) | gnomAD v4 |
| 5 | g.38955695A>T | CA359563829 | RICTOR | c.2509T>A (p.Ser837Thr) c.469T>A (p.Ser157Thr) c.2461T>A (p.Ser821Thr) n.469T>A c.*1733T>A (n.*1733T>A) c.1654T>A (p.Ser552Thr) c.2320T>A (p.Ser774Thr) c.2350T>A (p.Ser784Thr) | |
| 5 | g.38955695_38955697del | CA2673647129 | RICTOR | c.2507_2509del (p.Asn836_Ser837delinsThr) c.467_469del (p.Asn156_Ser157delinsThr) c.2459_2461del (p.Asn820_Ser821delinsThr) n.467_469del c.*1731_*1733del (n.*1731_*1733del) c.1652_1654del (p.Asn551_Ser552delinsThr) c.2318_2320del (p.Asn773_Ser774delinsThr) c.2348_2350del (p.Asn783_Ser784delinsThr) | gnomAD v4 |
| 5 | g.38955696G>A | CA3245108 | RICTOR | c.2508C>T (p.Asn836=) c.468C>T (p.Asn156=) c.2460C>T (p.Asn820=) n.468C>T c.*1732C>T (n.*1732C>T) c.1653C>T (p.Asn551=) c.2319C>T (p.Asn773=) c.2349C>T (p.Asn783=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.38955696G>C | CA359563832 | RICTOR | c.2508C>G (p.Asn836Lys) c.468C>G (p.Asn156Lys) c.2460C>G (p.Asn820Lys) n.468C>G c.*1732C>G (n.*1732C>G) c.1653C>G (p.Asn551Lys) c.2319C>G (p.Asn773Lys) c.2349C>G (p.Asn783Lys) | |
| 5 | g.38955696G= | CA1540476113 | RICTOR | c.2508C= (p.Asn836=) c.468C= (p.Asn156=) c.2460C= (p.Asn820=) n.468C= c.*1732C= (n.*1732C=) c.1653C= (p.Asn551=) c.2319C= (p.Asn773=) c.2349C= (p.Asn783=) | |
| 5 | g.38955696G>T | CA359563833 | RICTOR | c.2508C>A (p.Asn836Lys) c.468C>A (p.Asn156Lys) c.2460C>A (p.Asn820Lys) n.468C>A c.*1732C>A (n.*1732C>A) c.1653C>A (p.Asn551Lys) c.2319C>A (p.Asn773Lys) c.2349C>A (p.Asn783Lys) | gnomAD v4 |
| 5 | g.38955697T>A | CA359563834 | RICTOR | c.2507A>T (p.Asn836Ile) c.467A>T (p.Asn156Ile) c.2459A>T (p.Asn820Ile) n.467A>T c.*1731A>T (n.*1731A>T) c.1652A>T (p.Asn551Ile) c.2318A>T (p.Asn773Ile) c.2348A>T (p.Asn783Ile) | |
| 5 | g.38955697T>C | CA359563835 | RICTOR | c.2507A>G (p.Asn836Ser) c.467A>G (p.Asn156Ser) c.2459A>G (p.Asn820Ser) n.467A>G c.*1731A>G (n.*1731A>G) c.1652A>G (p.Asn551Ser) c.2318A>G (p.Asn773Ser) c.2348A>G (p.Asn783Ser) | gnomAD v4 |
| 5 | g.38955697T>G | CA359563836 | RICTOR | c.2507A>C (p.Asn836Thr) c.467A>C (p.Asn156Thr) c.2459A>C (p.Asn820Thr) n.467A>C c.*1731A>C (n.*1731A>C) c.1652A>C (p.Asn551Thr) c.2318A>C (p.Asn773Thr) c.2348A>C (p.Asn783Thr) | |
| 5 | g.38955698T>A | CA359563839 | RICTOR | c.2506A>T (p.Asn836Tyr) c.466A>T (p.Asn156Tyr) c.2458A>T (p.Asn820Tyr) n.466A>T c.*1730A>T (n.*1730A>T) c.1651A>T (p.Asn551Tyr) c.2317A>T (p.Asn773Tyr) c.2347A>T (p.Asn783Tyr) | |
| 5 | g.38955698T>C | CA359563837 | RICTOR | c.2506A>G (p.Asn836Asp) c.466A>G (p.Asn156Asp) c.2458A>G (p.Asn820Asp) n.466A>G c.*1730A>G (n.*1730A>G) c.1651A>G (p.Asn551Asp) c.2317A>G (p.Asn773Asp) c.2347A>G (p.Asn783Asp) | gnomAD v4 |
| 5 | g.38955698T>G | CA359563838 | RICTOR | c.2506A>C (p.Asn836His) c.466A>C (p.Asn156His) c.2458A>C (p.Asn820His) n.466A>C c.*1730A>C (n.*1730A>C) c.1651A>C (p.Asn551His) c.2317A>C (p.Asn773His) c.2347A>C (p.Asn783His) | |
| 5 | g.38955699G>A | CA443950986 | RICTOR | c.2505C>T (p.Tyr835=) c.465C>T (p.Tyr155=) c.2457C>T (p.Tyr819=) n.465C>T c.*1729C>T (n.*1729C>T) c.1650C>T (p.Tyr550=) c.2316C>T (p.Tyr772=) c.2346C>T (p.Tyr782=) | dbSNP gnomAD v4 |
| 5 | g.38955699G>C | CA359563840 | RICTOR | c.2505C>G (p.Tyr835Ter) c.465C>G (p.Tyr155Ter) c.2457C>G (p.Tyr819Ter) n.465C>G c.*1729C>G (n.*1729C>G) c.1650C>G (p.Tyr550Ter) c.2316C>G (p.Tyr772Ter) c.2346C>G (p.Tyr782Ter) | |
| 5 | g.38955699G>T | CA359563841 | RICTOR | c.2505C>A (p.Tyr835Ter) c.465C>A (p.Tyr155Ter) c.2457C>A (p.Tyr819Ter) n.465C>A c.*1729C>A (n.*1729C>A) c.1650C>A (p.Tyr550Ter) c.2316C>A (p.Tyr772Ter) c.2346C>A (p.Tyr782Ter) | gnomAD v4 |
| 5 | g.38955700T>A | CA359563842 | RICTOR | c.2504A>T (p.Tyr835Phe) c.464A>T (p.Tyr155Phe) c.2456A>T (p.Tyr819Phe) n.464A>T c.*1728A>T (n.*1728A>T) c.1649A>T (p.Tyr550Phe) c.2315A>T (p.Tyr772Phe) c.2345A>T (p.Tyr782Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955700T>C | CA117169939 | RICTOR | c.2504A>G (p.Tyr835Cys) c.464A>G (p.Tyr155Cys) c.2456A>G (p.Tyr819Cys) n.464A>G c.*1728A>G (n.*1728A>G) c.1649A>G (p.Tyr550Cys) c.2315A>G (p.Tyr772Cys) c.2345A>G (p.Tyr782Cys) | dbSNP gnomAD v4 |
| 5 | g.38955700T>G | CA359563843 | RICTOR | c.2504A>C (p.Tyr835Ser) c.464A>C (p.Tyr155Ser) c.2456A>C (p.Tyr819Ser) n.464A>C c.*1728A>C (n.*1728A>C) c.1649A>C (p.Tyr550Ser) c.2315A>C (p.Tyr772Ser) c.2345A>C (p.Tyr782Ser) | |
| 5 | g.38955700T= | CA1540476114 | RICTOR | c.2504A= (p.Tyr835=) c.464A= (p.Tyr155=) c.2456A= (p.Tyr819=) n.464A= c.*1728A= (n.*1728A=) c.1649A= (p.Tyr550=) c.2315A= (p.Tyr772=) c.2345A= (p.Tyr782=) | |
| 5 | g.38955701A>C | CA359563844 | RICTOR | c.2503T>G (p.Tyr835Asp) c.463T>G (p.Tyr155Asp) c.2455T>G (p.Tyr819Asp) n.463T>G c.*1727T>G (n.*1727T>G) c.1648T>G (p.Tyr550Asp) c.2314T>G (p.Tyr772Asp) c.2344T>G (p.Tyr782Asp) | |
| 5 | g.38955701A>G | CA359563846 | RICTOR | c.2503T>C (p.Tyr835His) c.463T>C (p.Tyr155His) c.2455T>C (p.Tyr819His) n.463T>C c.*1727T>C (n.*1727T>C) c.1648T>C (p.Tyr550His) c.2314T>C (p.Tyr772His) c.2344T>C (p.Tyr782His) | gnomAD v4 |
| 5 | g.38955701A>T | CA359563845 | RICTOR | c.2503T>A (p.Tyr835Asn) c.463T>A (p.Tyr155Asn) c.2455T>A (p.Tyr819Asn) n.463T>A c.*1727T>A (n.*1727T>A) c.1648T>A (p.Tyr550Asn) c.2314T>A (p.Tyr772Asn) c.2344T>A (p.Tyr782Asn) | |
| 5 | g.38955702T>A | CA359563847 | RICTOR | c.2502A>T (p.Glu834Asp) c.462A>T (p.Glu154Asp) c.2454A>T (p.Glu818Asp) n.462A>T c.*1726A>T (n.*1726A>T) c.1647A>T (p.Glu549Asp) c.2313A>T (p.Glu771Asp) c.2343A>T (p.Glu781Asp) | gnomAD v4 |
| 5 | g.38955702T>C | CA443950987 | RICTOR | c.2502A>G (p.Glu834=) c.462A>G (p.Glu154=) c.2454A>G (p.Glu818=) n.462A>G c.*1726A>G (n.*1726A>G) c.1647A>G (p.Glu549=) c.2313A>G (p.Glu771=) c.2343A>G (p.Glu781=) | gnomAD v4 |
| 5 | g.38955702T>G | CA359563848 | RICTOR | c.2502A>C (p.Glu834Asp) c.462A>C (p.Glu154Asp) c.2454A>C (p.Glu818Asp) n.462A>C c.*1726A>C (n.*1726A>C) c.1647A>C (p.Glu549Asp) c.2313A>C (p.Glu771Asp) c.2343A>C (p.Glu781Asp) | gnomAD v4 |
| 5 | g.38955703T>A | CA359563849 | RICTOR | c.2501A>T (p.Glu834Val) c.461A>T (p.Glu154Val) c.2453A>T (p.Glu818Val) n.461A>T c.*1725A>T (n.*1725A>T) c.1646A>T (p.Glu549Val) c.2312A>T (p.Glu771Val) c.2342A>T (p.Glu781Val) | gnomAD v4 |
| 5 | g.38955703T>C | CA359563850 | RICTOR | c.2501A>G (p.Glu834Gly) c.461A>G (p.Glu154Gly) c.2453A>G (p.Glu818Gly) n.461A>G c.*1725A>G (n.*1725A>G) c.1646A>G (p.Glu549Gly) c.2312A>G (p.Glu771Gly) c.2342A>G (p.Glu781Gly) | gnomAD v4 |
| 5 | g.38955703T>G | CA359563851 | RICTOR | c.2501A>C (p.Glu834Ala) c.461A>C (p.Glu154Ala) c.2453A>C (p.Glu818Ala) n.461A>C c.*1725A>C (n.*1725A>C) c.1646A>C (p.Glu549Ala) c.2312A>C (p.Glu771Ala) c.2342A>C (p.Glu781Ala) | |
| 5 | g.38955704C>A | CA359563852 | RICTOR | c.2500G>T (p.Glu834Ter) c.460G>T (p.Glu154Ter) c.2452G>T (p.Glu818Ter) n.460G>T c.*1724G>T (n.*1724G>T) c.1645G>T (p.Glu549Ter) c.2311G>T (p.Glu771Ter) c.2341G>T (p.Glu781Ter) | dbSNP |
| 5 | g.38955704C= | CA1540476115 | RICTOR | c.2500G= (p.Glu834=) c.460G= (p.Glu154=) c.2452G= (p.Glu818=) n.460G= c.*1724G= (n.*1724G=) c.1645G= (p.Glu549=) c.2311G= (p.Glu771=) c.2341G= (p.Glu781=) | |
| 5 | g.38955704C>G | CA3245109 | RICTOR | c.2500G>C (p.Glu834Gln) c.460G>C (p.Glu154Gln) c.2452G>C (p.Glu818Gln) n.460G>C c.*1724G>C (n.*1724G>C) c.1645G>C (p.Glu549Gln) c.2311G>C (p.Glu771Gln) c.2341G>C (p.Glu781Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955704C>T | CA359563854 | RICTOR | c.2500G>A (p.Glu834Lys) c.460G>A (p.Glu154Lys) c.2452G>A (p.Glu818Lys) n.460G>A c.*1724G>A (n.*1724G>A) c.1645G>A (p.Glu549Lys) c.2311G>A (p.Glu771Lys) c.2341G>A (p.Glu781Lys) | gnomAD v4 |
| 5 | g.38955705C>A | CA359563857 | RICTOR | c.2500-1G>T (n.2500-1G>T) c.460-1G>T (n.460-1G>T) c.2452-1G>T (n.2452-1G>T) n.460-1G>T c.*1724-1G>T (n.*1724-1G>T) c.1645-1G>T (n.1645-1G>T) c.2311-1G>T (n.2311-1G>T) c.2341-1G>T (n.2341-1G>T) | gnomAD v4 |
| 5 | g.38955705C>G | CA359563859 | RICTOR | c.2500-1G>C (n.2500-1G>C) c.460-1G>C (n.460-1G>C) c.2452-1G>C (n.2452-1G>C) n.460-1G>C c.*1724-1G>C (n.*1724-1G>C) c.1645-1G>C (n.1645-1G>C) c.2311-1G>C (n.2311-1G>C) c.2341-1G>C (n.2341-1G>C) | |
| 5 | g.38955705C>T | CA359563861 | RICTOR | c.2500-1G>A (n.2500-1G>A) c.460-1G>A (n.460-1G>A) c.2452-1G>A (n.2452-1G>A) n.460-1G>A c.*1724-1G>A (n.*1724-1G>A) c.1645-1G>A (n.1645-1G>A) c.2311-1G>A (n.2311-1G>A) c.2341-1G>A (n.2341-1G>A) | |
| 5 | g.38955706T>A | CA359563868 | RICTOR | c.2500-2A>T (n.2500-2A>T) c.460-2A>T (n.460-2A>T) c.2452-2A>T (n.2452-2A>T) n.460-2A>T c.*1724-2A>T (n.*1724-2A>T) c.1645-2A>T (n.1645-2A>T) c.2311-2A>T (n.2311-2A>T) c.2341-2A>T (n.2341-2A>T) | gnomAD v4 |
| 5 | g.38955706T>C | CA359563870 | RICTOR | c.2500-2A>G (n.2500-2A>G) c.460-2A>G (n.460-2A>G) c.2452-2A>G (n.2452-2A>G) n.460-2A>G c.*1724-2A>G (n.*1724-2A>G) c.1645-2A>G (n.1645-2A>G) c.2311-2A>G (n.2311-2A>G) c.2341-2A>G (n.2341-2A>G) | gnomAD v4 |
| 5 | g.38955706T>G | CA359563865 | RICTOR | c.2500-2A>C (n.2500-2A>C) c.460-2A>C (n.460-2A>C) c.2452-2A>C (n.2452-2A>C) n.460-2A>C c.*1724-2A>C (n.*1724-2A>C) c.1645-2A>C (n.1645-2A>C) c.2311-2A>C (n.2311-2A>C) c.2341-2A>C (n.2341-2A>C) | |
| 5 | g.38955707del | CA2673647143 | RICTOR | c.2500-3del (n.2500-3del) c.460-3del (n.460-3del) c.2452-3del (n.2452-3del) n.460-3del c.*1724-3del (n.*1724-3del) c.1645-3del (n.1645-3del) c.2311-3del (n.2311-3del) c.2341-3del (n.2341-3del) | gnomAD v4 |
| 5 | g.38955708G>A | CA117169947 | RICTOR | c.2500-4C>T (n.2500-4C>T) c.460-4C>T (n.460-4C>T) c.2452-4C>T (n.2452-4C>T) n.460-4C>T c.*1724-4C>T (n.*1724-4C>T) c.1645-4C>T (n.1645-4C>T) c.2311-4C>T (n.2311-4C>T) c.2341-4C>T (n.2341-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.38955708G= | CA1540476116 | RICTOR | c.2500-4C= (n.2500-4C=) c.460-4C= (n.460-4C=) c.2452-4C= (n.2452-4C=) n.460-4C= c.*1724-4C= (n.*1724-4C=) c.1645-4C= (n.1645-4C=) c.2311-4C= (n.2311-4C=) c.2341-4C= (n.2341-4C=) | |
| 5 | g.38955708G>T | CA2673647145 | RICTOR | c.2500-4C>A (n.2500-4C>A) c.460-4C>A (n.460-4C>A) c.2452-4C>A (n.2452-4C>A) n.460-4C>A c.*1724-4C>A (n.*1724-4C>A) c.1645-4C>A (n.1645-4C>A) c.2311-4C>A (n.2311-4C>A) c.2341-4C>A (n.2341-4C>A) | gnomAD v4 |
| 5 | g.38955709A>C | CA2673647147 | RICTOR | c.2500-5T>G (n.2500-5T>G) c.460-5T>G (n.460-5T>G) c.2452-5T>G (n.2452-5T>G) n.460-5T>G c.*1724-5T>G (n.*1724-5T>G) c.1645-5T>G (n.1645-5T>G) c.2311-5T>G (n.2311-5T>G) c.2341-5T>G (n.2341-5T>G) | gnomAD v4 |
| 5 | g.38955709A>G | CA2673647149 | RICTOR | c.2500-5T>C (n.2500-5T>C) c.460-5T>C (n.460-5T>C) c.2452-5T>C (n.2452-5T>C) n.460-5T>C c.*1724-5T>C (n.*1724-5T>C) c.1645-5T>C (n.1645-5T>C) c.2311-5T>C (n.2311-5T>C) c.2341-5T>C (n.2341-5T>C) | gnomAD v4 |