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 |
|---|---|---|---|---|---|
| 15 | g.91000531C>A | CA393885236 | VPS33B | c.1540G>T (p.Gly514Cys) c.1459G>T (p.Gly487Cys) n.475G>T n.106G>T c.*1235G>T (n.*1235G>T) c.1267G>T (p.Gly423Cys) c.1462G>T (p.Gly488Cys) c.1216G>T (p.Gly406Cys) c.1195G>T (p.Gly399Cys) n.2038G>T | dbSNP gnomAD v4 |
| 15 | g.91000531C= | CA2195398285 | VPS33B | c.1540G= (p.Gly514=) c.1459G= (p.Gly487=) n.475G= n.106G= c.*1235G= (n.*1235G=) c.1267G= (p.Gly423=) c.1462G= (p.Gly488=) c.1216G= (p.Gly406=) c.1195G= (p.Gly399=) n.2038G= | |
| 15 | g.91000531C>G | CA7744602 | VPS33B | c.1540G>C (p.Gly514Arg) c.1459G>C (p.Gly487Arg) n.475G>C n.106G>C c.*1235G>C (n.*1235G>C) c.1267G>C (p.Gly423Arg) c.1462G>C (p.Gly488Arg) c.1216G>C (p.Gly406Arg) c.1195G>C (p.Gly399Arg) n.2038G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91000531C>T | CA7744601 | VPS33B | c.1540G>A (p.Gly514Ser) c.1459G>A (p.Gly487Ser) n.475G>A n.106G>A c.*1235G>A (n.*1235G>A) c.1267G>A (p.Gly423Ser) c.1462G>A (p.Gly488Ser) c.1216G>A (p.Gly406Ser) c.1195G>A (p.Gly399Ser) n.2038G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91000532G>A | CA492203745 | VPS33B | c.1539C>T (p.Phe513=) c.1458C>T (p.Phe486=) n.474C>T n.105C>T c.*1234C>T (n.*1234C>T) c.1266C>T (p.Phe422=) c.1461C>T (p.Phe487=) c.1215C>T (p.Phe405=) c.1194C>T (p.Phe398=) n.2037C>T | gnomAD v4 |
| 15 | g.91000532G>C | CA393885239 | VPS33B | c.1539C>G (p.Phe513Leu) c.1458C>G (p.Phe486Leu) n.474C>G n.105C>G c.*1234C>G (n.*1234C>G) c.1266C>G (p.Phe422Leu) c.1461C>G (p.Phe487Leu) c.1215C>G (p.Phe405Leu) c.1194C>G (p.Phe398Leu) n.2037C>G | |
| 15 | g.91000532G>T | CA393885241 | VPS33B | c.1539C>A (p.Phe513Leu) c.1458C>A (p.Phe486Leu) n.474C>A n.105C>A c.*1234C>A (n.*1234C>A) c.1266C>A (p.Phe422Leu) c.1461C>A (p.Phe487Leu) c.1215C>A (p.Phe405Leu) c.1194C>A (p.Phe398Leu) n.2037C>A | |
| 15 | g.91000533A= | CA2195398286 | VPS33B | c.1538T= (p.Phe513=) c.1457T= (p.Phe486=) n.473T= n.104T= c.*1233T= (n.*1233T=) c.1265T= (p.Phe422=) c.1460T= (p.Phe487=) c.1214T= (p.Phe405=) c.1193T= (p.Phe398=) n.2036T= | |
| 15 | g.91000533A>C | CA393885245 | VPS33B | c.1538T>G (p.Phe513Cys) c.1457T>G (p.Phe486Cys) n.473T>G n.104T>G c.*1233T>G (n.*1233T>G) c.1265T>G (p.Phe422Cys) c.1460T>G (p.Phe487Cys) c.1214T>G (p.Phe405Cys) c.1193T>G (p.Phe398Cys) n.2036T>G | |
| 15 | g.91000533A>G | CA274809966 | VPS33B | c.1538T>C (p.Phe513Ser) c.1457T>C (p.Phe486Ser) n.473T>C n.104T>C c.*1233T>C (n.*1233T>C) c.1265T>C (p.Phe422Ser) c.1460T>C (p.Phe487Ser) c.1214T>C (p.Phe405Ser) c.1193T>C (p.Phe398Ser) n.2036T>C | dbSNP |
| 15 | g.91000533A>T | CA393885243 | VPS33B | c.1538T>A (p.Phe513Tyr) c.1457T>A (p.Phe486Tyr) n.473T>A n.104T>A c.*1233T>A (n.*1233T>A) c.1265T>A (p.Phe422Tyr) c.1460T>A (p.Phe487Tyr) c.1214T>A (p.Phe405Tyr) c.1193T>A (p.Phe398Tyr) n.2036T>A | |
| 15 | g.91000534A= | CA2195398287 | VPS33B | c.1537T= (p.Phe513=) c.1456T= (p.Phe486=) n.472T= n.103T= c.*1232T= (n.*1232T=) c.1264T= (p.Phe422=) c.1459T= (p.Phe487=) c.1213T= (p.Phe405=) c.1192T= (p.Phe398=) n.2035T= | |
| 15 | g.91000534A>C | CA393885248 | VPS33B | c.1537T>G (p.Phe513Val) c.1456T>G (p.Phe486Val) n.472T>G n.103T>G c.*1232T>G (n.*1232T>G) c.1264T>G (p.Phe422Val) c.1459T>G (p.Phe487Val) c.1213T>G (p.Phe405Val) c.1192T>G (p.Phe398Val) n.2035T>G | |
| 15 | g.91000534A>G | CA393885249 | VPS33B | c.1537T>C (p.Phe513Leu) c.1456T>C (p.Phe486Leu) n.472T>C n.103T>C c.*1232T>C (n.*1232T>C) c.1264T>C (p.Phe422Leu) c.1459T>C (p.Phe487Leu) c.1213T>C (p.Phe405Leu) c.1192T>C (p.Phe398Leu) n.2035T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.91000534A>T | CA393885251 | VPS33B | c.1537T>A (p.Phe513Ile) c.1456T>A (p.Phe486Ile) n.472T>A n.103T>A c.*1232T>A (n.*1232T>A) c.1264T>A (p.Phe422Ile) c.1459T>A (p.Phe487Ile) c.1213T>A (p.Phe405Ile) c.1192T>A (p.Phe398Ile) n.2035T>A | |
| 15 | g.91000535G>A | CA492203746 | VPS33B | c.1536C>T (p.Val512=) c.1455C>T (p.Val485=) n.471C>T n.102C>T c.*1231C>T (n.*1231C>T) c.1263C>T (p.Val421=) c.1458C>T (p.Val486=) c.1212C>T (p.Val404=) c.1191C>T (p.Val397=) n.2034C>T | |
| 15 | g.91000535G>C | CA492203747 | VPS33B | c.1536C>G (p.Val512=) c.1455C>G (p.Val485=) n.471C>G n.102C>G c.*1231C>G (n.*1231C>G) c.1263C>G (p.Val421=) c.1458C>G (p.Val486=) c.1212C>G (p.Val404=) c.1191C>G (p.Val397=) n.2034C>G | dbSNP gnomAD v2 |
| 15 | g.91000535G= | CA2195398288 | VPS33B | c.1536C= (p.Val512=) c.1455C= (p.Val485=) n.471C= n.102C= c.*1231C= (n.*1231C=) c.1263C= (p.Val421=) c.1458C= (p.Val486=) c.1212C= (p.Val404=) c.1191C= (p.Val397=) n.2034C= | |
| 15 | g.91000535G>T | CA492203748 | VPS33B | c.1536C>A (p.Val512=) c.1455C>A (p.Val485=) n.471C>A n.102C>A c.*1231C>A (n.*1231C>A) c.1263C>A (p.Val421=) c.1458C>A (p.Val486=) c.1212C>A (p.Val404=) c.1191C>A (p.Val397=) n.2034C>A | |
| 15 | g.91000536A= | CA2195398289 | VPS33B | c.1535T= (p.Val512=) c.1454T= (p.Val485=) n.470T= n.101T= c.*1230T= (n.*1230T=) c.1262T= (p.Val421=) c.1457T= (p.Val486=) c.1211T= (p.Val404=) c.1190T= (p.Val397=) n.2033T= | |
| 15 | g.91000536A>C | CA393885253 | VPS33B | c.1535T>G (p.Val512Gly) c.1454T>G (p.Val485Gly) n.470T>G n.101T>G c.*1230T>G (n.*1230T>G) c.1262T>G (p.Val421Gly) c.1457T>G (p.Val486Gly) c.1211T>G (p.Val404Gly) c.1190T>G (p.Val397Gly) n.2033T>G | |
| 15 | g.91000536A>G | CA7744603 | VPS33B | c.1535T>C (p.Val512Ala) c.1454T>C (p.Val485Ala) n.470T>C n.101T>C c.*1230T>C (n.*1230T>C) c.1262T>C (p.Val421Ala) c.1457T>C (p.Val486Ala) c.1211T>C (p.Val404Ala) c.1190T>C (p.Val397Ala) n.2033T>C | dbSNP ExAC gnomAD v2 |
| 15 | g.91000536A>T | CA393885255 | VPS33B | c.1535T>A (p.Val512Asp) c.1454T>A (p.Val485Asp) n.470T>A n.101T>A c.*1230T>A (n.*1230T>A) c.1262T>A (p.Val421Asp) c.1457T>A (p.Val486Asp) c.1211T>A (p.Val404Asp) c.1190T>A (p.Val397Asp) n.2033T>A | |
| 15 | g.91000537C>A | CA393885257 | VPS33B | c.1534G>T (p.Val512Phe) c.1453G>T (p.Val485Phe) n.469G>T n.100G>T c.*1229G>T (n.*1229G>T) c.1261G>T (p.Val421Phe) c.1456G>T (p.Val486Phe) c.1210G>T (p.Val404Phe) c.1189G>T (p.Val397Phe) n.2032G>T | |
| 15 | g.91000537C= | CA2195398290 | VPS33B | c.1534G= (p.Val512=) c.1453G= (p.Val485=) n.469G= n.100G= c.*1229G= (n.*1229G=) c.1261G= (p.Val421=) c.1456G= (p.Val486=) c.1210G= (p.Val404=) c.1189G= (p.Val397=) n.2032G= | |
| 15 | g.91000537C>G | CA393885259 | VPS33B | c.1534G>C (p.Val512Leu) c.1453G>C (p.Val485Leu) n.469G>C n.100G>C c.*1229G>C (n.*1229G>C) c.1261G>C (p.Val421Leu) c.1456G>C (p.Val486Leu) c.1210G>C (p.Val404Leu) c.1189G>C (p.Val397Leu) n.2032G>C | |
| 15 | g.91000537C>T | CA7744604 | VPS33B | c.1534G>A (p.Val512Ile) c.1453G>A (p.Val485Ile) n.469G>A n.100G>A c.*1229G>A (n.*1229G>A) c.1261G>A (p.Val421Ile) c.1456G>A (p.Val486Ile) c.1210G>A (p.Val404Ile) c.1189G>A (p.Val397Ile) n.2032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91000538G>A | CA7744605 | VPS33B | c.1533C>T (p.Tyr511=) c.1452C>T (p.Tyr484=) n.468C>T n.99C>T c.*1228C>T (n.*1228C>T) c.1260C>T (p.Tyr420=) c.1455C>T (p.Tyr485=) c.1209C>T (p.Tyr403=) c.1188C>T (p.Tyr396=) n.2031C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.91000538G>C | CA393885263 | VPS33B | c.1533C>G (p.Tyr511Ter) c.1452C>G (p.Tyr484Ter) n.468C>G n.99C>G c.*1228C>G (n.*1228C>G) c.1260C>G (p.Tyr420Ter) c.1455C>G (p.Tyr485Ter) c.1209C>G (p.Tyr403Ter) c.1188C>G (p.Tyr396Ter) n.2031C>G | |
| 15 | g.91000538G= | CA2195398291 | VPS33B | c.1533C= (p.Tyr511=) c.1452C= (p.Tyr484=) n.468C= n.99C= c.*1228C= (n.*1228C=) c.1260C= (p.Tyr420=) c.1455C= (p.Tyr485=) c.1209C= (p.Tyr403=) c.1188C= (p.Tyr396=) n.2031C= | |
| 15 | g.91000538G>T | CA393885264 | VPS33B | c.1533C>A (p.Tyr511Ter) c.1452C>A (p.Tyr484Ter) n.468C>A n.99C>A c.*1228C>A (n.*1228C>A) c.1260C>A (p.Tyr420Ter) c.1455C>A (p.Tyr485Ter) c.1209C>A (p.Tyr403Ter) c.1188C>A (p.Tyr396Ter) n.2031C>A | |
| 15 | g.91000539T>A | CA393885266 | VPS33B | c.1532A>T (p.Tyr511Phe) c.1451A>T (p.Tyr484Phe) n.467A>T n.98A>T c.*1227A>T (n.*1227A>T) c.1259A>T (p.Tyr420Phe) c.1454A>T (p.Tyr485Phe) c.1208A>T (p.Tyr403Phe) c.1187A>T (p.Tyr396Phe) n.2030A>T | |
| 15 | g.91000539T>C | CA393885269 | VPS33B | c.1532A>G (p.Tyr511Cys) c.1451A>G (p.Tyr484Cys) n.467A>G n.98A>G c.*1227A>G (n.*1227A>G) c.1259A>G (p.Tyr420Cys) c.1454A>G (p.Tyr485Cys) c.1208A>G (p.Tyr403Cys) c.1187A>G (p.Tyr396Cys) n.2030A>G | |
| 15 | g.91000539T>G | CA393885267 | VPS33B | c.1532A>C (p.Tyr511Ser) c.1451A>C (p.Tyr484Ser) n.467A>C n.98A>C c.*1227A>C (n.*1227A>C) c.1259A>C (p.Tyr420Ser) c.1454A>C (p.Tyr485Ser) c.1208A>C (p.Tyr403Ser) c.1187A>C (p.Tyr396Ser) n.2030A>C | |
| 15 | g.91000539dup | CA717051408 | VPS33B | c.1532dup (p.Tyr511Ter) c.1451dup (p.Tyr484Ter) n.467dup n.98dup c.*1227dup (n.*1227dup) c.1259dup (p.Tyr420Ter) c.1454dup (p.Tyr485Ter) c.1208dup (p.Tyr403Ter) c.1187dup (p.Tyr396Ter) n.2030dup | dbSNP |
| 15 | g.91000540A>C | CA393885271 | VPS33B | c.1531T>G (p.Tyr511Asp) c.1450T>G (p.Tyr484Asp) n.466T>G n.97T>G c.*1226T>G (n.*1226T>G) c.1258T>G (p.Tyr420Asp) c.1453T>G (p.Tyr485Asp) c.1207T>G (p.Tyr403Asp) c.1186T>G (p.Tyr396Asp) n.2029T>G | |
| 15 | g.91000540A>G | CA393885276 | VPS33B | c.1531T>C (p.Tyr511His) c.1450T>C (p.Tyr484His) n.466T>C n.97T>C c.*1226T>C (n.*1226T>C) c.1258T>C (p.Tyr420His) c.1453T>C (p.Tyr485His) c.1207T>C (p.Tyr403His) c.1186T>C (p.Tyr396His) n.2029T>C | |
| 15 | g.91000540A>T | CA393885275 | VPS33B | c.1531T>A (p.Tyr511Asn) c.1450T>A (p.Tyr484Asn) n.466T>A n.97T>A c.*1226T>A (n.*1226T>A) c.1258T>A (p.Tyr420Asn) c.1453T>A (p.Tyr485Asn) c.1207T>A (p.Tyr403Asn) c.1186T>A (p.Tyr396Asn) n.2029T>A | |
| 15 | g.91000541del | CA2630423250 | VPS33B | c.1531del (p.Tyr511ThrfsTer10) c.1450del (p.Tyr484ThrfsTer10) n.466del n.97del c.*1226del (n.*1226del) c.1258del (p.Tyr420ThrfsTer10) c.1453del (p.Tyr485ThrfsTer10) c.1207del (p.Tyr403ThrfsTer10) c.1186del (p.Tyr396ThrfsTer10) n.2029del | gnomAD v4 |
| 15 | g.91000541A>C | CA492203749 | VPS33B | c.1530T>G (p.Ala510=) c.1449T>G (p.Ala483=) n.465T>G n.96T>G c.*1225T>G (n.*1225T>G) c.1257T>G (p.Ala419=) c.1452T>G (p.Ala484=) c.1206T>G (p.Ala402=) c.1185T>G (p.Ala395=) n.2028T>G | |
| 15 | g.91000541A>G | CA492203750 | VPS33B | c.1530T>C (p.Ala510=) c.1449T>C (p.Ala483=) n.465T>C n.96T>C c.*1225T>C (n.*1225T>C) c.1257T>C (p.Ala419=) c.1452T>C (p.Ala484=) c.1206T>C (p.Ala402=) c.1185T>C (p.Ala395=) n.2028T>C | |
| 15 | g.91000541A>T | CA492203751 | VPS33B | c.1530T>A (p.Ala510=) c.1449T>A (p.Ala483=) n.465T>A n.96T>A c.*1225T>A (n.*1225T>A) c.1257T>A (p.Ala419=) c.1452T>A (p.Ala484=) c.1206T>A (p.Ala402=) c.1185T>A (p.Ala395=) n.2028T>A | |
| 15 | g.91000542G>A | CA393885277 | VPS33B | c.1529C>T (p.Ala510Val) c.1448C>T (p.Ala483Val) n.464C>T n.95C>T c.*1224C>T (n.*1224C>T) c.1256C>T (p.Ala419Val) c.1451C>T (p.Ala484Val) c.1205C>T (p.Ala402Val) c.1184C>T (p.Ala395Val) n.2027C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.91000542G>C | CA393885278 | VPS33B | c.1529C>G (p.Ala510Gly) c.1448C>G (p.Ala483Gly) n.464C>G n.95C>G c.*1224C>G (n.*1224C>G) c.1256C>G (p.Ala419Gly) c.1451C>G (p.Ala484Gly) c.1205C>G (p.Ala402Gly) c.1184C>G (p.Ala395Gly) n.2027C>G | |
| 15 | g.91000542G= | CA2195398292 | VPS33B | c.1529C= (p.Ala510=) c.1448C= (p.Ala483=) n.464C= n.95C= c.*1224C= (n.*1224C=) c.1256C= (p.Ala419=) c.1451C= (p.Ala484=) c.1205C= (p.Ala402=) c.1184C= (p.Ala395=) n.2027C= | |
| 15 | g.91000542G>T | CA393885280 | VPS33B | c.1529C>A (p.Ala510Asp) c.1448C>A (p.Ala483Asp) n.464C>A n.95C>A c.*1224C>A (n.*1224C>A) c.1256C>A (p.Ala419Asp) c.1451C>A (p.Ala484Asp) c.1205C>A (p.Ala402Asp) c.1184C>A (p.Ala395Asp) n.2027C>A | |
| 15 | g.91000543C>A | CA393885281 | VPS33B | c.1528G>T (p.Ala510Ser) c.1447G>T (p.Ala483Ser) n.463G>T n.94G>T c.*1223G>T (n.*1223G>T) c.1255G>T (p.Ala419Ser) c.1450G>T (p.Ala484Ser) c.1204G>T (p.Ala402Ser) c.1183G>T (p.Ala395Ser) n.2026G>T | |
| 15 | g.91000543C= | CA2195398293 | VPS33B | c.1528G= (p.Ala510=) c.1447G= (p.Ala483=) n.463G= n.94G= c.*1223G= (n.*1223G=) c.1255G= (p.Ala419=) c.1450G= (p.Ala484=) c.1204G= (p.Ala402=) c.1183G= (p.Ala395=) n.2026G= | |
| 15 | g.91000543C>G | CA7744606 | VPS33B | c.1528G>C (p.Ala510Pro) c.1447G>C (p.Ala483Pro) n.463G>C n.94G>C c.*1223G>C (n.*1223G>C) c.1255G>C (p.Ala419Pro) c.1450G>C (p.Ala484Pro) c.1204G>C (p.Ala402Pro) c.1183G>C (p.Ala395Pro) n.2026G>C | dbSNP ExAC gnomAD v2 |
| 15 | g.91000543C>T | CA393885283 | VPS33B | c.1528G>A (p.Ala510Thr) c.1447G>A (p.Ala483Thr) n.463G>A n.94G>A c.*1223G>A (n.*1223G>A) c.1255G>A (p.Ala419Thr) c.1450G>A (p.Ala484Thr) c.1204G>A (p.Ala402Thr) c.1183G>A (p.Ala395Thr) n.2026G>A |