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 |
|---|---|---|---|---|---|
| 6 | g.25812881_25812942del | CA645552929 | SLC17A1 | c.787_848del (p.Pro263IlefsTer13) c.*38_*99del (n.*38_*99del) c.735+154_735+215del (n.735+154_735+215del) c.700_761del (p.Pro234IlefsTer13) c.574_635del (p.Pro192IlefsTer13) c.937_998del (p.Pro313IlefsTer13) c.850_911del (p.Pro284IlefsTer13) c.885+154_885+215del (n.885+154_885+215del) c.853_914del (p.Pro285IlefsTer13) | COSMIC |
| 6 | g.25812922G>A | CA3662596 | SLC17A1 | c.806C>T (p.Thr269Ile) c.*57C>T (n.*57C>T) c.735+173C>T (n.735+173C>T) c.719C>T (p.Thr240Ile) c.593C>T (p.Thr198Ile) c.956C>T (p.Thr319Ile) c.869C>T (p.Thr290Ile) c.885+173C>T (n.885+173C>T) c.872C>T (p.Thr291Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812922G>C | CA363158068 | SLC17A1 | c.806C>G (p.Thr269Ser) c.*57C>G (n.*57C>G) c.735+173C>G (n.735+173C>G) c.719C>G (p.Thr240Ser) c.593C>G (p.Thr198Ser) c.956C>G (p.Thr319Ser) c.869C>G (p.Thr290Ser) c.885+173C>G (n.885+173C>G) c.872C>G (p.Thr291Ser) | dbSNP |
| 6 | g.25812922G= | CA1616765630 | SLC17A1 | c.806C= (p.Thr269=) c.*57C= (n.*57C=) c.735+173C= (n.735+173C=) c.719C= (p.Thr240=) c.593C= (p.Thr198=) c.956C= (p.Thr319=) c.869C= (p.Thr290=) c.885+173C= (n.885+173C=) c.872C= (p.Thr291=) | |
| 6 | g.25812922G>T | CA363158069 | SLC17A1 | c.806C>A (p.Thr269Asn) c.*57C>A (n.*57C>A) c.735+173C>A (n.735+173C>A) c.719C>A (p.Thr240Asn) c.593C>A (p.Thr198Asn) c.956C>A (p.Thr319Asn) c.869C>A (p.Thr290Asn) c.885+173C>A (n.885+173C>A) c.872C>A (p.Thr291Asn) | |
| 6 | g.25812923T>A | CA363158070 | SLC17A1 | c.805A>T (p.Thr269Ser) c.*56A>T (n.*56A>T) c.735+172A>T (n.735+172A>T) c.718A>T (p.Thr240Ser) c.592A>T (p.Thr198Ser) c.955A>T (p.Thr319Ser) c.868A>T (p.Thr290Ser) c.885+172A>T (n.885+172A>T) c.871A>T (p.Thr291Ser) | |
| 6 | g.25812923T>C | CA363158071 | SLC17A1 | c.805A>G (p.Thr269Ala) c.*56A>G (n.*56A>G) c.735+172A>G (n.735+172A>G) c.718A>G (p.Thr240Ala) c.592A>G (p.Thr198Ala) c.955A>G (p.Thr319Ala) c.868A>G (p.Thr290Ala) c.885+172A>G (n.885+172A>G) c.871A>G (p.Thr291Ala) | gnomAD v4 COSMIC |
| 6 | g.25812923T>G | CA363158072 | SLC17A1 | c.805A>C (p.Thr269Pro) c.*56A>C (n.*56A>C) c.735+172A>C (n.735+172A>C) c.718A>C (p.Thr240Pro) c.592A>C (p.Thr198Pro) c.955A>C (p.Thr319Pro) c.868A>C (p.Thr290Pro) c.885+172A>C (n.885+172A>C) c.871A>C (p.Thr291Pro) | |
| 6 | g.25812924G>A | CA448980365 | SLC17A1 | c.804C>T (p.Ser268=) c.*55C>T (n.*55C>T) c.735+171C>T (n.735+171C>T) c.717C>T (p.Ser239=) c.591C>T (p.Ser197=) c.954C>T (p.Ser318=) c.867C>T (p.Ser289=) c.885+171C>T (n.885+171C>T) c.870C>T (p.Ser290=) | |
| 6 | g.25812924G>C | CA448980366 | SLC17A1 | c.804C>G (p.Ser268=) c.*55C>G (n.*55C>G) c.735+171C>G (n.735+171C>G) c.717C>G (p.Ser239=) c.591C>G (p.Ser197=) c.954C>G (p.Ser318=) c.867C>G (p.Ser289=) c.885+171C>G (n.885+171C>G) c.870C>G (p.Ser290=) | |
| 6 | g.25812924G>T | CA448980367 | SLC17A1 | c.804C>A (p.Ser268=) c.*55C>A (n.*55C>A) c.735+171C>A (n.735+171C>A) c.717C>A (p.Ser239=) c.591C>A (p.Ser197=) c.954C>A (p.Ser318=) c.867C>A (p.Ser289=) c.885+171C>A (n.885+171C>A) c.870C>A (p.Ser290=) | |
| 6 | g.25812925G>A | CA363158073 | SLC17A1 | c.803C>T (p.Ser268Phe) c.*54C>T (n.*54C>T) c.735+170C>T (n.735+170C>T) c.716C>T (p.Ser239Phe) c.590C>T (p.Ser197Phe) c.953C>T (p.Ser318Phe) c.866C>T (p.Ser289Phe) c.885+170C>T (n.885+170C>T) c.869C>T (p.Ser290Phe) | COSMIC |
| 6 | g.25812925G>C | CA363158074 | SLC17A1 | c.803C>G (p.Ser268Cys) c.*54C>G (n.*54C>G) c.735+170C>G (n.735+170C>G) c.716C>G (p.Ser239Cys) c.590C>G (p.Ser197Cys) c.953C>G (p.Ser318Cys) c.866C>G (p.Ser289Cys) c.885+170C>G (n.885+170C>G) c.869C>G (p.Ser290Cys) | |
| 6 | g.25812925G>T | CA363158075 | SLC17A1 | c.803C>A (p.Ser268Tyr) c.*54C>A (n.*54C>A) c.735+170C>A (n.735+170C>A) c.716C>A (p.Ser239Tyr) c.590C>A (p.Ser197Tyr) c.953C>A (p.Ser318Tyr) c.866C>A (p.Ser289Tyr) c.885+170C>A (n.885+170C>A) c.869C>A (p.Ser290Tyr) | gnomAD v4 |
| 6 | g.25812926A= | CA1616765631 | SLC17A1 | c.802T= (p.Ser268=) c.*53T= (n.*53T=) c.735+169T= (n.735+169T=) c.715T= (p.Ser239=) c.589T= (p.Ser197=) c.952T= (p.Ser318=) c.865T= (p.Ser289=) c.885+169T= (n.885+169T=) c.868T= (p.Ser290=) | |
| 6 | g.25812926A>C | CA3662597 | SLC17A1 | c.802T>G (p.Ser268Ala) c.*53T>G (n.*53T>G) c.735+169T>G (n.735+169T>G) c.715T>G (p.Ser239Ala) c.589T>G (p.Ser197Ala) c.952T>G (p.Ser318Ala) c.865T>G (p.Ser289Ala) c.885+169T>G (n.885+169T>G) c.868T>G (p.Ser290Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25812926A>G | CA363158077 | SLC17A1 | c.802T>C (p.Ser268Pro) c.*53T>C (n.*53T>C) c.735+169T>C (n.735+169T>C) c.715T>C (p.Ser239Pro) c.589T>C (p.Ser197Pro) c.952T>C (p.Ser318Pro) c.865T>C (p.Ser289Pro) c.885+169T>C (n.885+169T>C) c.868T>C (p.Ser290Pro) | gnomAD v4 |
| 6 | g.25812926A>T | CA363158076 | SLC17A1 | c.802T>A (p.Ser268Thr) c.*53T>A (n.*53T>A) c.735+169T>A (n.735+169T>A) c.715T>A (p.Ser239Thr) c.589T>A (p.Ser197Thr) c.952T>A (p.Ser318Thr) c.865T>A (p.Ser289Thr) c.885+169T>A (n.885+169T>A) c.868T>A (p.Ser290Thr) | |
| 6 | g.25812927A>C | CA363158078 | SLC17A1 | c.801T>G (p.Ile267Met) c.*52T>G (n.*52T>G) c.735+168T>G (n.735+168T>G) c.714T>G (p.Ile238Met) c.588T>G (p.Ile196Met) c.951T>G (p.Ile317Met) c.864T>G (p.Ile288Met) c.885+168T>G (n.885+168T>G) c.867T>G (p.Ile289Met) | |
| 6 | g.25812927A>G | CA448980368 | SLC17A1 | c.801T>C (p.Ile267=) c.*52T>C (n.*52T>C) c.735+168T>C (n.735+168T>C) c.714T>C (p.Ile238=) c.588T>C (p.Ile196=) c.951T>C (p.Ile317=) c.864T>C (p.Ile288=) c.885+168T>C (n.885+168T>C) c.867T>C (p.Ile289=) | |
| 6 | g.25812927A>T | CA448980369 | SLC17A1 | c.801T>A (p.Ile267=) c.*52T>A (n.*52T>A) c.735+168T>A (n.735+168T>A) c.714T>A (p.Ile238=) c.588T>A (p.Ile196=) c.951T>A (p.Ile317=) c.864T>A (p.Ile288=) c.885+168T>A (n.885+168T>A) c.867T>A (p.Ile289=) | |
| 6 | g.25812928A= | CA1616765632 | SLC17A1 | c.800T= (p.Ile267=) c.*51T= (n.*51T=) c.735+167T= (n.735+167T=) c.713T= (p.Ile238=) c.587T= (p.Ile196=) c.950T= (p.Ile317=) c.863T= (p.Ile288=) c.885+167T= (n.885+167T=) c.866T= (p.Ile289=) | |
| 6 | g.25812928A>C | CA363158079 | SLC17A1 | c.800T>G (p.Ile267Ser) c.*51T>G (n.*51T>G) c.735+167T>G (n.735+167T>G) c.713T>G (p.Ile238Ser) c.587T>G (p.Ile196Ser) c.950T>G (p.Ile317Ser) c.863T>G (p.Ile288Ser) c.885+167T>G (n.885+167T>G) c.866T>G (p.Ile289Ser) | |
| 6 | g.25812928A>G | CA363158080 | SLC17A1 | c.800T>C (p.Ile267Thr) c.*51T>C (n.*51T>C) c.735+167T>C (n.735+167T>C) c.713T>C (p.Ile238Thr) c.587T>C (p.Ile196Thr) c.950T>C (p.Ile317Thr) c.863T>C (p.Ile288Thr) c.885+167T>C (n.885+167T>C) c.866T>C (p.Ile289Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25812928A>T | CA363158081 | SLC17A1 | c.800T>A (p.Ile267Asn) c.*51T>A (n.*51T>A) c.735+167T>A (n.735+167T>A) c.713T>A (p.Ile238Asn) c.587T>A (p.Ile196Asn) c.950T>A (p.Ile317Asn) c.863T>A (p.Ile288Asn) c.885+167T>A (n.885+167T>A) c.866T>A (p.Ile289Asn) | |
| 6 | g.25812929T>A | CA363158082 | SLC17A1 | c.799A>T (p.Ile267Phe) c.*50A>T (n.*50A>T) c.735+166A>T (n.735+166A>T) c.712A>T (p.Ile238Phe) c.586A>T (p.Ile196Phe) c.949A>T (p.Ile317Phe) c.862A>T (p.Ile288Phe) c.885+166A>T (n.885+166A>T) c.865A>T (p.Ile289Phe) | |
| 6 | g.25812929T>C | CA363158083 | SLC17A1 | c.799A>G (p.Ile267Val) c.*50A>G (n.*50A>G) c.735+166A>G (n.735+166A>G) c.712A>G (p.Ile238Val) c.586A>G (p.Ile196Val) c.949A>G (p.Ile317Val) c.862A>G (p.Ile288Val) c.885+166A>G (n.885+166A>G) c.865A>G (p.Ile289Val) | gnomAD v4 |
| 6 | g.25812929T>G | CA363158084 | SLC17A1 | c.799A>C (p.Ile267Leu) c.*50A>C (n.*50A>C) c.735+166A>C (n.735+166A>C) c.712A>C (p.Ile238Leu) c.586A>C (p.Ile196Leu) c.949A>C (p.Ile317Leu) c.862A>C (p.Ile288Leu) c.885+166A>C (n.885+166A>C) c.865A>C (p.Ile289Leu) | |
| 6 | g.25812930A= | CA1616765633 | SLC17A1 | c.798T= (p.Ala266=) c.*49T= (n.*49T=) c.735+165T= (n.735+165T=) c.711T= (p.Ala237=) c.585T= (p.Ala195=) c.948T= (p.Ala316=) c.861T= (p.Ala287=) c.885+165T= (n.885+165T=) c.864T= (p.Ala288=) | |
| 6 | g.25812930A>C | CA448980370 | SLC17A1 | c.798T>G (p.Ala266=) c.*49T>G (n.*49T>G) c.735+165T>G (n.735+165T>G) c.711T>G (p.Ala237=) c.585T>G (p.Ala195=) c.948T>G (p.Ala316=) c.861T>G (p.Ala287=) c.885+165T>G (n.885+165T>G) c.864T>G (p.Ala288=) | |
| 6 | g.25812930A>G | CA3662598 | SLC17A1 | c.798T>C (p.Ala266=) c.*49T>C (n.*49T>C) c.735+165T>C (n.735+165T>C) c.711T>C (p.Ala237=) c.585T>C (p.Ala195=) c.948T>C (p.Ala316=) c.861T>C (p.Ala287=) c.885+165T>C (n.885+165T>C) c.864T>C (p.Ala288=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812930A>T | CA448980371 | SLC17A1 | c.798T>A (p.Ala266=) c.*49T>A (n.*49T>A) c.735+165T>A (n.735+165T>A) c.711T>A (p.Ala237=) c.585T>A (p.Ala195=) c.948T>A (p.Ala316=) c.861T>A (p.Ala287=) c.885+165T>A (n.885+165T>A) c.864T>A (p.Ala288=) | |
| 6 | g.25812931G>A | CA363158085 | SLC17A1 | c.797C>T (p.Ala266Val) c.*48C>T (n.*48C>T) c.735+164C>T (n.735+164C>T) c.710C>T (p.Ala237Val) c.584C>T (p.Ala195Val) c.947C>T (p.Ala316Val) c.860C>T (p.Ala287Val) c.885+164C>T (n.885+164C>T) c.863C>T (p.Ala288Val) | |
| 6 | g.25812931G>C | CA363158086 | SLC17A1 | c.797C>G (p.Ala266Gly) c.*48C>G (n.*48C>G) c.735+164C>G (n.735+164C>G) c.710C>G (p.Ala237Gly) c.584C>G (p.Ala195Gly) c.947C>G (p.Ala316Gly) c.860C>G (p.Ala287Gly) c.885+164C>G (n.885+164C>G) c.863C>G (p.Ala288Gly) | |
| 6 | g.25812931G>T | CA363158087 | SLC17A1 | c.797C>A (p.Ala266Asp) c.*48C>A (n.*48C>A) c.735+164C>A (n.735+164C>A) c.710C>A (p.Ala237Asp) c.584C>A (p.Ala195Asp) c.947C>A (p.Ala316Asp) c.860C>A (p.Ala287Asp) c.885+164C>A (n.885+164C>A) c.863C>A (p.Ala288Asp) | COSMIC |
| 6 | g.25812932C>A | CA363158089 | SLC17A1 | c.796G>T (p.Ala266Ser) c.*47G>T (n.*47G>T) c.735+163G>T (n.735+163G>T) c.709G>T (p.Ala237Ser) c.583G>T (p.Ala195Ser) c.946G>T (p.Ala316Ser) c.859G>T (p.Ala287Ser) c.885+163G>T (n.885+163G>T) c.862G>T (p.Ala288Ser) | |
| 6 | g.25812932C= | CA1616765634 | SLC17A1 | c.796G= (p.Ala266=) c.*47G= (n.*47G=) c.735+163G= (n.735+163G=) c.709G= (p.Ala237=) c.583G= (p.Ala195=) c.946G= (p.Ala316=) c.859G= (p.Ala287=) c.885+163G= (n.885+163G=) c.862G= (p.Ala288=) | |
| 6 | g.25812932C>G | CA363158090 | SLC17A1 | c.796G>C (p.Ala266Pro) c.*47G>C (n.*47G>C) c.735+163G>C (n.735+163G>C) c.709G>C (p.Ala237Pro) c.583G>C (p.Ala195Pro) c.946G>C (p.Ala316Pro) c.859G>C (p.Ala287Pro) c.885+163G>C (n.885+163G>C) c.862G>C (p.Ala288Pro) | |
| 6 | g.25812932C>T | CA363158088 | SLC17A1 | c.796G>A (p.Ala266Thr) c.*47G>A (n.*47G>A) c.735+163G>A (n.735+163G>A) c.709G>A (p.Ala237Thr) c.583G>A (p.Ala195Thr) c.946G>A (p.Ala316Thr) c.859G>A (p.Ala287Thr) c.885+163G>A (n.885+163G>A) c.862G>A (p.Ala288Thr) | dbSNP |
| 6 | g.25812933C>A | CA363158091 | SLC17A1 | c.795G>T (p.Trp265Cys) c.*46G>T (n.*46G>T) c.735+162G>T (n.735+162G>T) c.708G>T (p.Trp236Cys) c.582G>T (p.Trp194Cys) c.945G>T (p.Trp315Cys) c.858G>T (p.Trp286Cys) c.885+162G>T (n.885+162G>T) c.861G>T (p.Trp287Cys) | |
| 6 | g.25812933C>G | CA363158092 | SLC17A1 | c.795G>C (p.Trp265Cys) c.*46G>C (n.*46G>C) c.735+162G>C (n.735+162G>C) c.708G>C (p.Trp236Cys) c.582G>C (p.Trp194Cys) c.945G>C (p.Trp315Cys) c.858G>C (p.Trp286Cys) c.885+162G>C (n.885+162G>C) c.861G>C (p.Trp287Cys) | |
| 6 | g.25812933C>T | CA363158093 | SLC17A1 | c.795G>A (p.Trp265Ter) c.*46G>A (n.*46G>A) c.735+162G>A (n.735+162G>A) c.708G>A (p.Trp236Ter) c.582G>A (p.Trp194Ter) c.945G>A (p.Trp315Ter) c.858G>A (p.Trp286Ter) c.885+162G>A (n.885+162G>A) c.861G>A (p.Trp287Ter) | |
| 6 | g.25812934C>A | CA363158094 | SLC17A1 | c.794G>T (p.Trp265Leu) c.*45G>T (n.*45G>T) c.735+161G>T (n.735+161G>T) c.707G>T (p.Trp236Leu) c.581G>T (p.Trp194Leu) c.944G>T (p.Trp315Leu) c.857G>T (p.Trp286Leu) c.885+161G>T (n.885+161G>T) c.860G>T (p.Trp287Leu) | |
| 6 | g.25812934C>G | CA363158095 | SLC17A1 | c.794G>C (p.Trp265Ser) c.*45G>C (n.*45G>C) c.735+161G>C (n.735+161G>C) c.707G>C (p.Trp236Ser) c.581G>C (p.Trp194Ser) c.944G>C (p.Trp315Ser) c.857G>C (p.Trp286Ser) c.885+161G>C (n.885+161G>C) c.860G>C (p.Trp287Ser) | |
| 6 | g.25812934C>T | CA363158096 | SLC17A1 | c.794G>A (p.Trp265Ter) c.*45G>A (n.*45G>A) c.735+161G>A (n.735+161G>A) c.707G>A (p.Trp236Ter) c.581G>A (p.Trp194Ter) c.944G>A (p.Trp315Ter) c.857G>A (p.Trp286Ter) c.885+161G>A (n.885+161G>A) c.860G>A (p.Trp287Ter) | |
| 6 | g.25812935A>C | CA363158097 | SLC17A1 | c.793T>G (p.Trp265Gly) c.*44T>G (n.*44T>G) c.735+160T>G (n.735+160T>G) c.706T>G (p.Trp236Gly) c.580T>G (p.Trp194Gly) c.943T>G (p.Trp315Gly) c.856T>G (p.Trp286Gly) c.885+160T>G (n.885+160T>G) c.859T>G (p.Trp287Gly) | |
| 6 | g.25812935A>G | CA363158098 | SLC17A1 | c.793T>C (p.Trp265Arg) c.*44T>C (n.*44T>C) c.735+160T>C (n.735+160T>C) c.706T>C (p.Trp236Arg) c.580T>C (p.Trp194Arg) c.943T>C (p.Trp315Arg) c.856T>C (p.Trp286Arg) c.885+160T>C (n.885+160T>C) c.859T>C (p.Trp287Arg) | dbSNP gnomAD v4 |
| 6 | g.25812935A>T | CA363158099 | SLC17A1 | c.793T>A (p.Trp265Arg) c.*44T>A (n.*44T>A) c.735+160T>A (n.735+160T>A) c.706T>A (p.Trp236Arg) c.580T>A (p.Trp194Arg) c.943T>A (p.Trp315Arg) c.856T>A (p.Trp286Arg) c.885+160T>A (n.885+160T>A) c.859T>A (p.Trp287Arg) | |
| 6 | g.25812935_25812945delinsAGACTGGAAGC | CA1616765635 | SLC17A1 | c.783_793delinsGCTTCCAGTCT (p.Ser261=) c.*34_*44delinsGCTTCCAGTCT (n.*34_*44delinsGCTTCCAGTCT) c.735+150_735+160delinsGCTTCCAGTCT (n.735+150_735+160delinsGCTTCCAGTCT) c.696_706delinsGCTTCCAGTCT (p.Ser232=) c.570_580delinsGCTTCCAGTCT (p.Ser190=) c.933_943delinsGCTTCCAGTCT (p.Ser311=) c.846_856delinsGCTTCCAGTCT (p.Ser282=) c.885+150_885+160delinsGCTTCCAGTCT (n.885+150_885+160delinsGCTTCCAGTCT) c.849_859delinsGCTTCCAGTCT (p.Ser283=) | |
| 6 | g.25812936G>A | CA448980372 | SLC17A1 | c.792C>T (p.Val264=) c.*43C>T (n.*43C>T) c.735+159C>T (n.735+159C>T) c.705C>T (p.Val235=) c.579C>T (p.Val193=) c.942C>T (p.Val314=) c.855C>T (p.Val285=) c.885+159C>T (n.885+159C>T) c.858C>T (p.Val286=) |