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 |
|---|---|---|---|---|---|
| 20 | g.33408801C>A | CA408630279 | SNTA1 | c.1325G>T (p.Arg442Leu) c.1357G>T (p.Glu453Ter) n.1361G>T c.998G>T (p.Arg333Leu) | |
| 20 | g.33408801C= | CA2360740193 | SNTA1 | c.1325G= (p.Arg442=) c.1357G= (p.Glu453=) n.1361G= c.998G= (p.Arg333=) | |
| 20 | g.33408801C>G | CA408630280 | SNTA1 | c.1325G>C (p.Arg442Pro) c.1357G>C (p.Glu453Gln) n.1361G>C c.998G>C (p.Arg333Pro) | |
| 20 | g.33408801C>T | CA9816981 | SNTA1 | c.1325G>A (p.Arg442Gln) c.1357G>A (p.Glu453Lys) n.1361G>A c.998G>A (p.Arg333Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.33408802G>A | CA302300 | SNTA1 | c.1324C>T (p.Arg442Ter) c.1356C>T (p.Pro452=) n.1360C>T c.997C>T (p.Arg333Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33408802G>C | CA408630281 | SNTA1 | c.1324C>G (p.Arg442Gly) c.1356C>G (p.Pro452=) n.1360C>G c.997C>G (p.Arg333Gly) | |
| 20 | g.33408802G= | CA2360740194 | SNTA1 | c.1324C= (p.Arg442=) c.1356C= (p.Pro452=) n.1360C= c.997C= (p.Arg333=) | |
| 20 | g.33408802G>T | CA510470234 | SNTA1 | c.1324C>A (p.Arg442=) c.1356C>A (p.Pro452=) n.1360C>A c.997C>A (p.Arg333=) | |
| 20 | g.33408803G>A | CA510470235 | SNTA1 | c.1323C>T (p.Ala441=) c.1355C>T (p.Pro452Leu) n.1359C>T c.996C>T (p.Ala332=) | |
| 20 | g.33408803G>C | CA510470236 | SNTA1 | c.1323C>G (p.Ala441=) c.1355C>G (p.Pro452Arg) n.1359C>G c.996C>G (p.Ala332=) | |
| 20 | g.33408803G>T | CA510470237 | SNTA1 | c.1323C>A (p.Ala441=) c.1355C>A (p.Pro452His) n.1359C>A c.996C>A (p.Ala332=) | |
| 20 | g.33408804G>A | CA408630282 | SNTA1 | c.1322C>T (p.Ala441Val) c.1354C>T (p.Pro452Ser) n.1358C>T c.995C>T (p.Ala332Val) | |
| 20 | g.33408804G>C | CA408630283 | SNTA1 | c.1322C>G (p.Ala441Gly) c.1354C>G (p.Pro452Ala) n.1358C>G c.995C>G (p.Ala332Gly) | |
| 20 | g.33408804G>T | CA408630284 | SNTA1 | c.1322C>A (p.Ala441Asp) c.1354C>A (p.Pro452Thr) n.1358C>A c.995C>A (p.Ala332Asp) | |
| 20 | g.33408805C>A | CA408630285 | SNTA1 | c.1321G>T (p.Ala441Ser) c.1353G>T (p.Gln451His) n.1357G>T c.994G>T (p.Ala332Ser) | |
| 20 | g.33408805C= | CA2360740195 | SNTA1 | c.1321G= (p.Ala441=) c.1353G= (p.Gln451=) n.1357G= c.994G= (p.Ala332=) | |
| 20 | g.33408805C>G | CA408630286 | SNTA1 | c.1321G>C (p.Ala441Pro) c.1353G>C (p.Gln451His) n.1357G>C c.994G>C (p.Ala332Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.33408805C>T | CA408630287 | SNTA1 | c.1321G>A (p.Ala441Thr) c.1353G>A (p.Gln451=) n.1357G>A c.994G>A (p.Ala332Thr) | |
| 20 | g.33408806T>A | CA510470241 | SNTA1 | c.1320A>T (p.Ala440=) c.1352A>T (p.Gln451Leu) n.1356A>T c.993A>T (p.Ala331=) | |
| 20 | g.33408806T>C | CA510470242 | SNTA1 | c.1320A>G (p.Ala440=) c.1352A>G (p.Gln451Arg) n.1356A>G c.993A>G (p.Ala331=) | |
| 20 | g.33408806T>G | CA510470243 | SNTA1 | c.1320A>C (p.Ala440=) c.1352A>C (p.Gln451Pro) n.1356A>C c.993A>C (p.Ala331=) | |
| 20 | g.33408807G>A | CA408630288 | SNTA1 | c.1319C>T (p.Ala440Val) c.1351C>T (p.Gln451Ter) n.1355C>T c.992C>T (p.Ala331Val) | dbSNP gnomAD v2 |
| 20 | g.33408807G>C | CA408630289 | SNTA1 | c.1319C>G (p.Ala440Gly) c.1351C>G (p.Gln451Glu) n.1355C>G c.992C>G (p.Ala331Gly) | |
| 20 | g.33408807G= | CA2360740196 | SNTA1 | c.1319C= (p.Ala440=) c.1351C= (p.Gln451=) n.1355C= c.992C= (p.Ala331=) | |
| 20 | g.33408807G>T | CA408630290 | SNTA1 | c.1319C>A (p.Ala440Glu) c.1351C>A (p.Gln451Lys) n.1355C>A c.992C>A (p.Ala331Glu) | |
| 20 | g.33408809_33408815dup | CA2577372484 | SNTA1 | c.1313_1319dup (p.Ala441ArgfsTer21) c.1345_1351dup (p.Gln451ProfsTer?) n.1349_1355dup c.986_992dup (p.Ala332ArgfsTer21) | |
| 20 | g.33408808C>A | CA408630293 | SNTA1 | c.1318G>T (p.Ala440Ser) c.1350G>T (p.Val450=) n.1354G>T c.991G>T (p.Ala331Ser) | |
| 20 | g.33408808C= | CA2360740197 | SNTA1 | c.1318G= (p.Ala440=) c.1350G= (p.Val450=) n.1354G= c.991G= (p.Ala331=) | |
| 20 | g.33408808C>G | CA408630291 | SNTA1 | c.1318G>C (p.Ala440Pro) c.1350G>C (p.Val450=) n.1354G>C c.991G>C (p.Ala331Pro) | |
| 20 | g.33408808C>T | CA408630292 | SNTA1 | c.1318G>A (p.Ala440Thr) c.1350G>A (p.Val450=) n.1354G>A c.991G>A (p.Ala331Thr) | dbSNP |
| 20 | g.33408809A= | CA2360740198 | SNTA1 | c.1317T= (p.Gly439=) c.1349T= (p.Val450=) n.1353T= c.990T= (p.Gly330=) | |
| 20 | g.33408809A>C | CA510470247 | SNTA1 | c.1317T>G (p.Gly439=) c.1349T>G (p.Val450Gly) n.1353T>G c.990T>G (p.Gly330=) | |
| 20 | g.33408809A>G | CA9816982 | SNTA1 | c.1317T>C (p.Gly439=) c.1349T>C (p.Val450Ala) n.1353T>C c.990T>C (p.Gly330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33408809A>T | CA510470248 | SNTA1 | c.1317T>A (p.Gly439=) c.1349T>A (p.Val450Glu) n.1353T>A c.990T>A (p.Gly330=) | |
| 20 | g.33408810C>A | CA408630294 | SNTA1 | c.1316G>T (p.Gly439Val) c.1348G>T (p.Val450Leu) n.1352G>T c.989G>T (p.Gly330Val) | |
| 20 | g.33408810C>G | CA408630295 | SNTA1 | c.1316G>C (p.Gly439Ala) c.1348G>C (p.Val450Leu) n.1352G>C c.989G>C (p.Gly330Ala) | |
| 20 | g.33408810C>T | CA408630296 | SNTA1 | c.1316G>A (p.Gly439Asp) c.1348G>A (p.Val450Met) n.1352G>A c.989G>A (p.Gly330Asp) | gnomAD v4 |
| 20 | g.33408811C>A | CA408630297 | SNTA1 | c.1315G>T (p.Gly439Cys) c.1347G>T (p.Gln449His) n.1351G>T c.988G>T (p.Gly330Cys) | |
| 20 | g.33408811C= | CA2360740199 | SNTA1 | c.1315G= (p.Gly439=) c.1347G= (p.Gln449=) n.1351G= c.988G= (p.Gly330=) | |
| 20 | g.33408811C>G | CA408630298 | SNTA1 | c.1315G>C (p.Gly439Arg) c.1347G>C (p.Gln449His) n.1351G>C c.988G>C (p.Gly330Arg) | |
| 20 | g.33408811C>T | CA9816983 | SNTA1 | c.1315G>A (p.Gly439Ser) c.1347G>A (p.Gln449=) n.1351G>A c.988G>A (p.Gly330Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33408812T>A | CA510470252 | SNTA1 | c.1314A>T (p.Pro438=) c.1346A>T (p.Gln449Leu) n.1350A>T c.987A>T (p.Pro329=) | |
| 20 | g.33408812T>C | CA510470253 | SNTA1 | c.1314A>G (p.Pro438=) c.1346A>G (p.Gln449Arg) n.1350A>G c.987A>G (p.Pro329=) | gnomAD v4 |
| 20 | g.33408812T>G | CA510470254 | SNTA1 | c.1314A>C (p.Pro438=) c.1346A>C (p.Gln449Pro) n.1350A>C c.987A>C (p.Pro329=) | |
| 20 | g.33408813G>A | CA408630299 | SNTA1 | c.1313C>T (p.Pro438Leu) c.1345C>T (p.Gln449Ter) n.1349C>T c.986C>T (p.Pro329Leu) | |
| 20 | g.33408813G>C | CA408630300 | SNTA1 | c.1313C>G (p.Pro438Arg) c.1345C>G (p.Gln449Glu) n.1349C>G c.986C>G (p.Pro329Arg) | |
| 20 | g.33408813G>T | CA408630301 | SNTA1 | c.1313C>A (p.Pro438Gln) c.1345C>A (p.Gln449Lys) n.1349C>A c.986C>A (p.Pro329Gln) | |
| 20 | g.33408814G>A | CA408630303 | SNTA1 | c.1312C>T (p.Pro438Ser) c.1344C>T (p.Ser448=) n.1348C>T c.985C>T (p.Pro329Ser) | |
| 20 | g.33408814G>C | CA408630304 | SNTA1 | c.1312C>G (p.Pro438Ala) c.1344C>G (p.Ser448Arg) n.1348C>G c.985C>G (p.Pro329Ala) | dbSNP |
| 20 | g.33408814G= | CA2360740200 | SNTA1 | c.1312C= (p.Pro438=) c.1344C= (p.Ser448=) n.1348C= c.985C= (p.Pro329=) |