WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73641795del | CA16041084 | SLC17A5 | c.423del (p.Phe141LeufsTer19) n.189del c.372del (p.Phe124LeufsTer19) c.225del (p.Phe75LeufsTer19) c.192del (p.Phe64LeufsTer19) c.444del (p.Phe148LeufsTer19) | ClinVar dbSNP |
| 6 | g.73641795A= | CA1638223050 | SLC17A5 | c.421T= (p.Phe141=) n.187T= c.370T= (p.Phe124=) c.223T= (p.Phe75=) c.190T= (p.Phe64=) c.442T= (p.Phe148=) | |
| 6 | g.73641795A>C | CA364718111 | SLC17A5 | c.421T>G (p.Phe141Val) n.187T>G c.370T>G (p.Phe124Val) c.223T>G (p.Phe75Val) c.190T>G (p.Phe64Val) c.442T>G (p.Phe148Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73641795A>G | CA3890534 | SLC17A5 | c.421T>C (p.Phe141Leu) n.187T>C c.370T>C (p.Phe124Leu) c.223T>C (p.Phe75Leu) c.190T>C (p.Phe64Leu) c.442T>C (p.Phe148Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641795A>T | CA364718112 | SLC17A5 | c.421T>A (p.Phe141Ile) n.187T>A c.370T>A (p.Phe124Ile) c.223T>A (p.Phe75Ile) c.190T>A (p.Phe64Ile) c.442T>A (p.Phe148Ile) | gnomAD v4 |
| 6 | g.73641796T>A | CA450912155 | SLC17A5 | c.420A>T (p.Gly140=) n.186A>T c.369A>T (p.Gly123=) c.222A>T (p.Gly74=) c.189A>T (p.Gly63=) c.441A>T (p.Gly147=) | |
| 6 | g.73641796T>C | CA450912156 | SLC17A5 | c.420A>G (p.Gly140=) n.186A>G c.369A>G (p.Gly123=) c.222A>G (p.Gly74=) c.189A>G (p.Gly63=) c.441A>G (p.Gly147=) | |
| 6 | g.73641796T>G | CA450912157 | SLC17A5 | c.420A>C (p.Gly140=) n.186A>C c.369A>C (p.Gly123=) c.222A>C (p.Gly74=) c.189A>C (p.Gly63=) c.441A>C (p.Gly147=) | |
| 6 | g.73641797C>A | CA364718113 | SLC17A5 | c.419G>T (p.Gly140Val) n.185G>T c.368G>T (p.Gly123Val) c.221G>T (p.Gly74Val) c.188G>T (p.Gly63Val) c.440G>T (p.Gly147Val) | |
| 6 | g.73641797C>G | CA364718114 | SLC17A5 | c.419G>C (p.Gly140Ala) n.185G>C c.368G>C (p.Gly123Ala) c.221G>C (p.Gly74Ala) c.188G>C (p.Gly63Ala) c.440G>C (p.Gly147Ala) | |
| 6 | g.73641797C>T | CA364718115 | SLC17A5 | c.419G>A (p.Gly140Glu) n.185G>A c.368G>A (p.Gly123Glu) c.221G>A (p.Gly74Glu) c.188G>A (p.Gly63Glu) c.440G>A (p.Gly147Glu) | |
| 6 | g.73641798C>A | CA364718116 | SLC17A5 | c.418G>T (p.Gly140Ter) n.184G>T c.367G>T (p.Gly123Ter) c.220G>T (p.Gly74Ter) c.187G>T (p.Gly63Ter) c.439G>T (p.Gly147Ter) | |
| 6 | g.73641798C= | CA1638223053 | SLC17A5 | c.418G= (p.Gly140=) n.184G= c.367G= (p.Gly123=) c.220G= (p.Gly74=) c.187G= (p.Gly63=) c.439G= (p.Gly147=) | |
| 6 | g.73641798C>G | CA364718117 | SLC17A5 | c.418G>C (p.Gly140Arg) n.184G>C c.367G>C (p.Gly123Arg) c.220G>C (p.Gly74Arg) c.187G>C (p.Gly63Arg) c.439G>C (p.Gly147Arg) | |
| 6 | g.73641798C>T | CA3890535 | SLC17A5 | c.418G>A (p.Gly140Arg) n.184G>A c.367G>A (p.Gly123Arg) c.220G>A (p.Gly74Arg) c.187G>A (p.Gly63Arg) c.439G>A (p.Gly147Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73641799T>A | CA450912158 | SLC17A5 | c.417A>T (p.Leu139=) n.183A>T c.366A>T (p.Leu122=) c.219A>T (p.Leu73=) c.186A>T (p.Leu62=) c.438A>T (p.Leu146=) | |
| 6 | g.73641799T>C | CA450912159 | SLC17A5 | c.417A>G (p.Leu139=) n.183A>G c.366A>G (p.Leu122=) c.219A>G (p.Leu73=) c.186A>G (p.Leu62=) c.438A>G (p.Leu146=) | |
| 6 | g.73641799T>G | CA450912160 | SLC17A5 | c.417A>C (p.Leu139=) n.183A>C c.366A>C (p.Leu122=) c.219A>C (p.Leu73=) c.186A>C (p.Leu62=) c.438A>C (p.Leu146=) | |
| 6 | g.73641800A>C | CA364718118 | SLC17A5 | c.416T>G (p.Leu139Arg) n.182T>G c.365T>G (p.Leu122Arg) c.218T>G (p.Leu73Arg) c.185T>G (p.Leu62Arg) c.437T>G (p.Leu146Arg) | |
| 6 | g.73641800A>G | CA364718119 | SLC17A5 | c.416T>C (p.Leu139Pro) n.182T>C c.365T>C (p.Leu122Pro) c.218T>C (p.Leu73Pro) c.185T>C (p.Leu62Pro) c.437T>C (p.Leu146Pro) | |
| 6 | g.73641800A>T | CA364718120 | SLC17A5 | c.416T>A (p.Leu139Gln) n.182T>A c.365T>A (p.Leu122Gln) c.218T>A (p.Leu73Gln) c.185T>A (p.Leu62Gln) c.437T>A (p.Leu146Gln) | |
| 6 | g.73641801G>A | CA450912161 | SLC17A5 | c.415C>T (p.Leu139=) n.181C>T c.364C>T (p.Leu122=) c.217C>T (p.Leu73=) c.184C>T (p.Leu62=) c.436C>T (p.Leu146=) | |
| 6 | g.73641801G>C | CA364718121 | SLC17A5 | c.415C>G (p.Leu139Val) n.181C>G c.364C>G (p.Leu122Val) c.217C>G (p.Leu73Val) c.184C>G (p.Leu62Val) c.436C>G (p.Leu146Val) | |
| 6 | g.73641801G>T | CA364718122 | SLC17A5 | c.415C>A (p.Leu139Ile) n.181C>A c.364C>A (p.Leu122Ile) c.217C>A (p.Leu73Ile) c.184C>A (p.Leu62Ile) c.436C>A (p.Leu146Ile) | |
| 6 | g.73641802C>A | CA450912162 | SLC17A5 | c.414G>T (p.Leu138=) n.180G>T c.363G>T (p.Leu121=) c.216G>T (p.Leu72=) c.183G>T (p.Leu61=) c.435G>T (p.Leu145=) | |
| 6 | g.73641802C>G | CA450912163 | SLC17A5 | c.414G>C (p.Leu138=) n.180G>C c.363G>C (p.Leu121=) c.216G>C (p.Leu72=) c.183G>C (p.Leu61=) c.435G>C (p.Leu145=) | |
| 6 | g.73641802C>T | CA450912164 | SLC17A5 | c.414G>A (p.Leu138=) n.180G>A c.363G>A (p.Leu121=) c.216G>A (p.Leu72=) c.183G>A (p.Leu61=) c.435G>A (p.Leu145=) | |
| 6 | g.73641803A= | CA1638223057 | SLC17A5 | c.413T= (p.Leu138=) n.179T= c.362T= (p.Leu121=) c.215T= (p.Leu72=) c.182T= (p.Leu61=) c.434T= (p.Leu145=) | |
| 6 | g.73641803A>C | CA364718123 | SLC17A5 | c.413T>G (p.Leu138Arg) n.179T>G c.362T>G (p.Leu121Arg) c.215T>G (p.Leu72Arg) c.182T>G (p.Leu61Arg) c.434T>G (p.Leu145Arg) | |
| 6 | g.73641803A>G | CA3890536 | SLC17A5 | c.413T>C (p.Leu138Pro) n.179T>C c.362T>C (p.Leu121Pro) c.215T>C (p.Leu72Pro) c.182T>C (p.Leu61Pro) c.434T>C (p.Leu145Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73641803A>T | CA364718124 | SLC17A5 | c.413T>A (p.Leu138Gln) n.179T>A c.362T>A (p.Leu121Gln) c.215T>A (p.Leu72Gln) c.182T>A (p.Leu61Gln) c.434T>A (p.Leu145Gln) | |
| 6 | g.73641804G>A | CA450912167 | SLC17A5 | c.412C>T (p.Leu138=) n.178C>T c.361C>T (p.Leu121=) c.214C>T (p.Leu72=) c.181C>T (p.Leu61=) c.433C>T (p.Leu145=) | |
| 6 | g.73641804G>C | CA364718125 | SLC17A5 | c.412C>G (p.Leu138Val) n.178C>G c.361C>G (p.Leu121Val) c.214C>G (p.Leu72Val) c.181C>G (p.Leu61Val) c.433C>G (p.Leu145Val) | COSMIC |
| 6 | g.73641804G>T | CA364718126 | SLC17A5 | c.412C>A (p.Leu138Met) n.178C>A c.361C>A (p.Leu121Met) c.214C>A (p.Leu72Met) c.181C>A (p.Leu61Met) c.433C>A (p.Leu145Met) | |
| 6 | g.73641805del | CA2578669715 | SLC17A5 | c.411del (p.Met137IlefsTer3) n.177del c.360del (p.Met120IlefsTer3) c.213del (p.Met71IlefsTer3) c.180del (p.Met60IlefsTer3) c.432del (p.Met144IlefsTer3) | |
| 6 | g.73641805C>A | CA364718127 | SLC17A5 | c.411G>T (p.Met137Ile) n.177G>T c.360G>T (p.Met120Ile) c.213G>T (p.Met71Ile) c.180G>T (p.Met60Ile) c.432G>T (p.Met144Ile) | |
| 6 | g.73641805C= | CA1638223060 | SLC17A5 | c.411G= (p.Met137=) n.177G= c.360G= (p.Met120=) c.213G= (p.Met71=) c.180G= (p.Met60=) c.432G= (p.Met144=) | |
| 6 | g.73641805C>G | CA364718128 | SLC17A5 | c.411G>C (p.Met137Ile) n.177G>C c.360G>C (p.Met120Ile) c.213G>C (p.Met71Ile) c.180G>C (p.Met60Ile) c.432G>C (p.Met144Ile) | |
| 6 | g.73641805C>T | CA140975664 | SLC17A5 | c.411G>A (p.Met137Ile) n.177G>A c.360G>A (p.Met120Ile) c.213G>A (p.Met71Ile) c.180G>A (p.Met60Ile) c.432G>A (p.Met144Ile) | dbSNP |
| 6 | g.73641806A>C | CA364718129 | SLC17A5 | c.410T>G (p.Met137Arg) n.176T>G c.359T>G (p.Met120Arg) c.212T>G (p.Met71Arg) c.179T>G (p.Met60Arg) c.431T>G (p.Met144Arg) | |
| 6 | g.73641806A>G | CA364718130 | SLC17A5 | c.410T>C (p.Met137Thr) n.176T>C c.359T>C (p.Met120Thr) c.212T>C (p.Met71Thr) c.179T>C (p.Met60Thr) c.431T>C (p.Met144Thr) | |
| 6 | g.73641806A>T | CA364718131 | SLC17A5 | c.410T>A (p.Met137Lys) n.176T>A c.359T>A (p.Met120Lys) c.212T>A (p.Met71Lys) c.179T>A (p.Met60Lys) c.431T>A (p.Met144Lys) | |
| 6 | g.73641806_73641807delinsAT | CA1638223063 | SLC17A5 | c.409_410delinsAT (p.Met137=) n.175_176delinsAT c.358_359delinsAT (p.Met120=) c.211_212delinsAT (p.Met71=) c.178_179delinsAT (p.Met60=) c.430_431delinsAT (p.Met144=) | |
| 6 | g.73641807T>A | CA364718132 | SLC17A5 | c.409A>T (p.Met137Leu) n.175A>T c.358A>T (p.Met120Leu) c.211A>T (p.Met71Leu) c.178A>T (p.Met60Leu) c.430A>T (p.Met144Leu) | |
| 6 | g.73641807T>C | CA364718133 | SLC17A5 | c.409A>G (p.Met137Val) n.175A>G c.358A>G (p.Met120Val) c.211A>G (p.Met71Val) c.178A>G (p.Met60Val) c.430A>G (p.Met144Val) | gnomAD v4 |
| 6 | g.73641807T>G | CA364718134 | SLC17A5 | c.409A>C (p.Met137Leu) n.175A>C c.358A>C (p.Met120Leu) c.211A>C (p.Met71Leu) c.178A>C (p.Met60Leu) c.430A>C (p.Met144Leu) | |
| 6 | g.73641810del | CA275529 | SLC17A5 | c.409del (p.Met137CysfsTer3) n.175del c.358del (p.Met120CysfsTer3) c.211del (p.Met71CysfsTer3) c.178del (p.Met60CysfsTer3) c.430del (p.Met144CysfsTer3) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73641808T>A | CA364718135 | SLC17A5 | c.408A>T (p.Lys136Asn) n.174A>T c.357A>T (p.Lys119Asn) c.210A>T (p.Lys70Asn) c.177A>T (p.Lys59Asn) c.429A>T (p.Lys143Asn) | |
| 6 | g.73641808T>C | CA450912168 | SLC17A5 | c.408A>G (p.Lys136=) n.174A>G c.357A>G (p.Lys119=) c.210A>G (p.Lys70=) c.177A>G (p.Lys59=) c.429A>G (p.Lys143=) | ClinVar |
| 6 | g.73641808T>G | CA364718136 | SLC17A5 | c.408A>C (p.Lys136Asn) n.174A>C c.357A>C (p.Lys119Asn) c.210A>C (p.Lys70Asn) c.177A>C (p.Lys59Asn) c.429A>C (p.Lys143Asn) |