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 |
|---|---|---|---|---|---|
| 10 | g.102830895T>A | CA377938197 | CYP17A1,WBP1L | c.1334A>T (p.Glu445Val) c.1031A>T (p.Glu344Val) c.878A>T (p.Glu293Val) c.1247A>T (p.Glu416Val) c.1337A>T (p.Glu446Val) n.1096A>T c.*577T>A (n.*577T>A) | |
| 10 | g.102830895T>C | CA377938198 | CYP17A1,WBP1L | c.1334A>G (p.Glu445Gly) c.1031A>G (p.Glu344Gly) c.878A>G (p.Glu293Gly) c.1247A>G (p.Glu416Gly) c.1337A>G (p.Glu446Gly) n.1096A>G c.*577T>C (n.*577T>C) | |
| 10 | g.102830895T>G | CA377938199 | CYP17A1,WBP1L | c.1334A>C (p.Glu445Ala) c.1031A>C (p.Glu344Ala) c.878A>C (p.Glu293Ala) c.1247A>C (p.Glu416Ala) c.1337A>C (p.Glu446Ala) n.1096A>C c.*577T>G (n.*577T>G) | |
| 10 | g.102830896C>A | CA377938200 | CYP17A1,WBP1L | c.1333G>T (p.Glu445Ter) c.1030G>T (p.Glu344Ter) c.877G>T (p.Glu293Ter) c.1246G>T (p.Glu416Ter) c.1336G>T (p.Glu446Ter) n.1095G>T c.*578C>A (n.*578C>A) | gnomAD v4 |
| 10 | g.102830896C= | CA1932867112 | CYP17A1,WBP1L | c.1333G= (p.Glu445=) c.1030G= (p.Glu344=) c.877G= (p.Glu293=) c.1246G= (p.Glu416=) c.1336G= (p.Glu446=) n.1095G= c.*578C= (n.*578C=) | |
| 10 | g.102830896C>G | CA377938201 | CYP17A1,WBP1L | c.1333G>C (p.Glu445Gln) c.1030G>C (p.Glu344Gln) c.877G>C (p.Glu293Gln) c.1246G>C (p.Glu416Gln) c.1336G>C (p.Glu446Gln) n.1095G>C c.*578C>G (n.*578C>G) | dbSNP |
| 10 | g.102830896C>T | CA377938202 | CYP17A1,WBP1L | c.1333G>A (p.Glu445Lys) c.1030G>A (p.Glu344Lys) c.877G>A (p.Glu293Lys) c.1246G>A (p.Glu416Lys) c.1336G>A (p.Glu446Lys) n.1095G>A c.*578C>T (n.*578C>T) | gnomAD v4 |
| 10 | g.102830897A>C | CA471287305 | CYP17A1,WBP1L | c.1332T>G (p.Gly444=) c.1029T>G (p.Gly343=) c.876T>G (p.Gly292=) c.1245T>G (p.Gly415=) c.1335T>G (p.Gly445=) n.1094T>G c.*579A>C (n.*579A>C) | |
| 10 | g.102830897A>G | CA471287307 | CYP17A1,WBP1L | c.1332T>C (p.Gly444=) c.1029T>C (p.Gly343=) c.876T>C (p.Gly292=) c.1245T>C (p.Gly415=) c.1335T>C (p.Gly445=) n.1094T>C c.*579A>G (n.*579A>G) | |
| 10 | g.102830897A>T | CA471287308 | CYP17A1,WBP1L | c.1332T>A (p.Gly444=) c.1029T>A (p.Gly343=) c.876T>A (p.Gly292=) c.1245T>A (p.Gly415=) c.1335T>A (p.Gly445=) n.1094T>A c.*579A>T (n.*579A>T) | |
| 10 | g.102830897_102830898delinsAC | CA1932867113 | CYP17A1,WBP1L | c.1331_1332delinsGT (p.Gly444=) c.1028_1029delinsGT (p.Gly343=) c.875_876delinsGT (p.Gly292=) c.1244_1245delinsGT (p.Gly415=) c.1334_1335delinsGT (p.Gly445=) n.1093_1094delinsGT c.*579_*580delinsAC (n.*579_*580delinsAC) | |
| 10 | g.102830898C>A | CA377938203 | CYP17A1,WBP1L | c.1331G>T (p.Gly444Val) c.1028G>T (p.Gly343Val) c.875G>T (p.Gly292Val) c.1244G>T (p.Gly415Val) c.1334G>T (p.Gly445Val) n.1093G>T c.*580C>A (n.*580C>A) | |
| 10 | g.102830898C= | CA1932867118 | CYP17A1,WBP1L | c.1331G= (p.Gly444=) c.1028G= (p.Gly343=) c.875G= (p.Gly292=) c.1244G= (p.Gly415=) c.1334G= (p.Gly445=) n.1093G= c.*580C= (n.*580C=) | |
| 10 | g.102830898C>G | CA377938204 | CYP17A1,WBP1L | c.1331G>C (p.Gly444Ala) c.1028G>C (p.Gly343Ala) c.875G>C (p.Gly292Ala) c.1244G>C (p.Gly415Ala) c.1334G>C (p.Gly445Ala) n.1093G>C c.*580C>G (n.*580C>G) | |
| 10 | g.102830898C>T | CA377938205 | CYP17A1,WBP1L | c.1331G>A (p.Gly444Asp) c.1028G>A (p.Gly343Asp) c.875G>A (p.Gly292Asp) c.1244G>A (p.Gly415Asp) c.1334G>A (p.Gly445Asp) n.1093G>A c.*580C>T (n.*580C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830899del | CA595226116 | CYP17A1,WBP1L | c.1331del (p.Gly444ValfsTer?) c.1028del (p.Gly343ValfsTer?) c.875del (p.Gly292ValfsTer?) c.1244del (p.Gly415ValfsTer?) c.1334del (p.Gly445ValfsTer?) n.1093del c.*581del (n.*581del) | dbSNP gnomAD v2 |
| 10 | g.102830899C>A | CA377938208 | CYP17A1,WBP1L | c.1330G>T (p.Gly444Cys) c.1027G>T (p.Gly343Cys) c.874G>T (p.Gly292Cys) c.1243G>T (p.Gly415Cys) c.1333G>T (p.Gly445Cys) n.1092G>T c.*581C>A (n.*581C>A) | gnomAD v4 |
| 10 | g.102830899C>G | CA377938207 | CYP17A1,WBP1L | c.1330G>C (p.Gly444Arg) c.1027G>C (p.Gly343Arg) c.874G>C (p.Gly292Arg) c.1243G>C (p.Gly415Arg) c.1333G>C (p.Gly445Arg) n.1092G>C c.*581C>G (n.*581C>G) | |
| 10 | g.102830899C>T | CA377938206 | CYP17A1,WBP1L | c.1330G>A (p.Gly444Ser) c.1027G>A (p.Gly343Ser) c.874G>A (p.Gly292Ser) c.1243G>A (p.Gly415Ser) c.1333G>A (p.Gly445Ser) n.1092G>A c.*581C>T (n.*581C>T) | |
| 10 | g.102830900T>A | CA471287312 | CYP17A1,WBP1L | c.1329A>T (p.Ile443=) c.1026A>T (p.Ile342=) c.873A>T (p.Ile291=) c.1242A>T (p.Ile414=) c.1332A>T (p.Ile444=) n.1091A>T c.*582T>A (n.*582T>A) | |
| 10 | g.102830900T>C | CA377938209 | CYP17A1,WBP1L | c.1329A>G (p.Ile443Met) c.1026A>G (p.Ile342Met) c.873A>G (p.Ile291Met) c.1242A>G (p.Ile414Met) c.1332A>G (p.Ile444Met) n.1091A>G c.*582T>C (n.*582T>C) | |
| 10 | g.102830900T>G | CA471287315 | CYP17A1,WBP1L | c.1329A>C (p.Ile443=) c.1026A>C (p.Ile342=) c.873A>C (p.Ile291=) c.1242A>C (p.Ile414=) c.1332A>C (p.Ile444=) n.1091A>C c.*582T>G (n.*582T>G) | |
| 10 | g.102830901A= | CA1932867123 | CYP17A1,WBP1L | c.1328T= (p.Ile443=) c.1025T= (p.Ile342=) c.872T= (p.Ile291=) c.1241T= (p.Ile414=) c.1331T= (p.Ile444=) n.1090T= c.*583A= (n.*583A=) | |
| 10 | g.102830901A>C | CA377938210 | CYP17A1,WBP1L | c.1328T>G (p.Ile443Arg) c.1025T>G (p.Ile342Arg) c.872T>G (p.Ile291Arg) c.1241T>G (p.Ile414Arg) c.1331T>G (p.Ile444Arg) n.1090T>G c.*583A>C (n.*583A>C) | |
| 10 | g.102830901A>G | CA377938211 | CYP17A1,WBP1L | c.1328T>C (p.Ile443Thr) c.1025T>C (p.Ile342Thr) c.872T>C (p.Ile291Thr) c.1241T>C (p.Ile414Thr) c.1331T>C (p.Ile444Thr) n.1090T>C c.*583A>G (n.*583A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830901A>T | CA377938212 | CYP17A1,WBP1L | c.1328T>A (p.Ile443Lys) c.1025T>A (p.Ile342Lys) c.872T>A (p.Ile291Lys) c.1241T>A (p.Ile414Lys) c.1331T>A (p.Ile444Lys) n.1090T>A c.*583A>T (n.*583A>T) | |
| 10 | g.102830902T>A | CA377938213 | CYP17A1,WBP1L | c.1327A>T (p.Ile443Leu) c.1024A>T (p.Ile342Leu) c.871A>T (p.Ile291Leu) c.1240A>T (p.Ile414Leu) c.1330A>T (p.Ile444Leu) n.1089A>T c.*584T>A (n.*584T>A) | gnomAD v4 |
| 10 | g.102830902T>C | CA377938214 | CYP17A1,WBP1L | c.1327A>G (p.Ile443Val) c.1024A>G (p.Ile342Val) c.871A>G (p.Ile291Val) c.1240A>G (p.Ile414Val) c.1330A>G (p.Ile444Val) n.1089A>G c.*584T>C (n.*584T>C) | dbSNP |
| 10 | g.102830902T>G | CA377938215 | CYP17A1,WBP1L | c.1327A>C (p.Ile443Leu) c.1024A>C (p.Ile342Leu) c.871A>C (p.Ile291Leu) c.1240A>C (p.Ile414Leu) c.1330A>C (p.Ile444Leu) n.1089A>C c.*584T>G (n.*584T>G) | |
| 10 | g.102830902T= | CA1932867126 | CYP17A1,WBP1L | c.1327A= (p.Ile443=) c.1024A= (p.Ile342=) c.871A= (p.Ile291=) c.1240A= (p.Ile414=) c.1330A= (p.Ile444=) n.1089A= c.*584T= (n.*584T=) | |
| 10 | g.102830903A>C | CA377938216 | CYP17A1,WBP1L | c.1326T>G (p.Cys442Trp) c.1023T>G (p.Cys341Trp) c.870T>G (p.Cys290Trp) c.1239T>G (p.Cys413Trp) c.1329T>G (p.Cys443Trp) n.1088T>G c.*585A>C (n.*585A>C) | |
| 10 | g.102830903A>G | CA471287319 | CYP17A1,WBP1L | c.1326T>C (p.Cys442=) c.1023T>C (p.Cys341=) c.870T>C (p.Cys290=) c.1239T>C (p.Cys413=) c.1329T>C (p.Cys443=) n.1088T>C c.*585A>G (n.*585A>G) | gnomAD v4 |
| 10 | g.102830903A>T | CA377938217 | CYP17A1,WBP1L | c.1326T>A (p.Cys442Ter) c.1023T>A (p.Cys341Ter) c.870T>A (p.Cys290Ter) c.1239T>A (p.Cys413Ter) c.1329T>A (p.Cys443Ter) n.1088T>A c.*585A>T (n.*585A>T) | |
| 10 | g.102830904C>A | CA377938218 | CYP17A1,WBP1L | c.1325G>T (p.Cys442Phe) c.1022G>T (p.Cys341Phe) c.869G>T (p.Cys290Phe) c.1238G>T (p.Cys413Phe) c.1328G>T (p.Cys443Phe) n.1087G>T c.*586C>A (n.*586C>A) | gnomAD v4 |
| 10 | g.102830904C>G | CA377938219 | CYP17A1,WBP1L | c.1325G>C (p.Cys442Ser) c.1022G>C (p.Cys341Ser) c.869G>C (p.Cys290Ser) c.1238G>C (p.Cys413Ser) c.1328G>C (p.Cys443Ser) n.1087G>C c.*586C>G (n.*586C>G) | |
| 10 | g.102830904C>T | CA377938220 | CYP17A1,WBP1L | c.1325G>A (p.Cys442Tyr) c.1022G>A (p.Cys341Tyr) c.869G>A (p.Cys290Tyr) c.1238G>A (p.Cys413Tyr) c.1328G>A (p.Cys443Tyr) n.1087G>A c.*586C>T (n.*586C>T) | gnomAD v4 |
| 10 | g.102830905A= | CA1932867133 | CYP17A1,WBP1L | c.1324T= (p.Cys442=) c.1021T= (p.Cys341=) c.868T= (p.Cys290=) c.1237T= (p.Cys413=) c.1327T= (p.Cys443=) n.1086T= c.*587A= (n.*587A=) | |
| 10 | g.102830905A>C | CA377938223 | CYP17A1,WBP1L | c.1324T>G (p.Cys442Gly) c.1021T>G (p.Cys341Gly) c.868T>G (p.Cys290Gly) c.1237T>G (p.Cys413Gly) c.1327T>G (p.Cys443Gly) n.1086T>G c.*587A>C (n.*587A>C) | |
| 10 | g.102830905A>G | CA377938222 | CYP17A1,WBP1L | c.1324T>C (p.Cys442Arg) c.1021T>C (p.Cys341Arg) c.868T>C (p.Cys290Arg) c.1237T>C (p.Cys413Arg) c.1327T>C (p.Cys443Arg) n.1086T>C c.*587A>G (n.*587A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.102830905A>T | CA377938221 | CYP17A1,WBP1L | c.1324T>A (p.Cys442Ser) c.1021T>A (p.Cys341Ser) c.868T>A (p.Cys290Ser) c.1237T>A (p.Cys413Ser) c.1327T>A (p.Cys443Ser) n.1086T>A c.*587A>T (n.*587A>T) | |
| 10 | g.102830906G>A | CA471287321 | CYP17A1,WBP1L | c.1323C>T (p.Ser441=) c.1020C>T (p.Ser340=) c.867C>T (p.Ser289=) c.1236C>T (p.Ser412=) c.1326C>T (p.Ser442=) n.1085C>T c.*588G>A (n.*588G>A) | gnomAD v4 |
| 10 | g.102830906G>C | CA471287324 | CYP17A1,WBP1L | c.1323C>G (p.Ser441=) c.1020C>G (p.Ser340=) c.867C>G (p.Ser289=) c.1236C>G (p.Ser412=) c.1326C>G (p.Ser442=) n.1085C>G c.*588G>C (n.*588G>C) | |
| 10 | g.102830906G>T | CA471287323 | CYP17A1,WBP1L | c.1323C>A (p.Ser441=) c.1020C>A (p.Ser340=) c.867C>A (p.Ser289=) c.1236C>A (p.Ser412=) c.1326C>A (p.Ser442=) n.1085C>A c.*588G>T (n.*588G>T) | gnomAD v4 |
| 10 | g.102830907G>A | CA377938224 | CYP17A1,WBP1L | c.1322C>T (p.Ser441Phe) c.1019C>T (p.Ser340Phe) c.866C>T (p.Ser289Phe) c.1235C>T (p.Ser412Phe) c.1325C>T (p.Ser442Phe) n.1084C>T c.*589G>A (n.*589G>A) | dbSNP |
| 10 | g.102830907G>C | CA377938225 | CYP17A1,WBP1L | c.1322C>G (p.Ser441Cys) c.1019C>G (p.Ser340Cys) c.866C>G (p.Ser289Cys) c.1235C>G (p.Ser412Cys) c.1325C>G (p.Ser442Cys) n.1084C>G c.*589G>C (n.*589G>C) | |
| 10 | g.102830907G= | CA1932867138 | CYP17A1,WBP1L | c.1322C= (p.Ser441=) c.1019C= (p.Ser340=) c.866C= (p.Ser289=) c.1235C= (p.Ser412=) c.1325C= (p.Ser442=) n.1084C= c.*589G= (n.*589G=) | |
| 10 | g.102830907G>T | CA377938226 | CYP17A1,WBP1L | c.1322C>A (p.Ser441Tyr) c.1019C>A (p.Ser340Tyr) c.866C>A (p.Ser289Tyr) c.1235C>A (p.Ser412Tyr) c.1325C>A (p.Ser442Tyr) n.1084C>A c.*589G>T (n.*589G>T) | gnomAD v4 |
| 10 | g.102830908A>C | CA377938227 | CYP17A1,WBP1L | c.1321T>G (p.Ser441Ala) c.1018T>G (p.Ser340Ala) c.865T>G (p.Ser289Ala) c.1234T>G (p.Ser412Ala) c.1324T>G (p.Ser442Ala) n.1083T>G c.*590A>C (n.*590A>C) | |
| 10 | g.102830908A>G | CA377938228 | CYP17A1,WBP1L | c.1321T>C (p.Ser441Pro) c.1018T>C (p.Ser340Pro) c.865T>C (p.Ser289Pro) c.1234T>C (p.Ser412Pro) c.1324T>C (p.Ser442Pro) n.1083T>C c.*590A>G (n.*590A>G) | |
| 10 | g.102830908A>T | CA377938229 | CYP17A1,WBP1L | c.1321T>A (p.Ser441Thr) c.1018T>A (p.Ser340Thr) c.865T>A (p.Ser289Thr) c.1234T>A (p.Ser412Thr) c.1324T>A (p.Ser442Thr) n.1083T>A c.*590A>T (n.*590A>T) |