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 |
|---|---|---|---|---|---|
| 18 | g.23556444G>A | CA503325165 | NPC1 | c.1125C>T (p.Thr375=) n.1039C>T c.407C>T c.1176C>T (p.Thr392=) c.711C>T (p.Thr237=) | |
| 18 | g.23556444G>C | CA503325166 | NPC1 | c.1125C>G (p.Thr375=) n.1039C>G c.407C>G c.1176C>G (p.Thr392=) c.711C>G (p.Thr237=) | |
| 18 | g.23556444G>T | CA503325167 | NPC1 | c.1125C>A (p.Thr375=) n.1039C>A c.407C>A c.1176C>A (p.Thr392=) c.711C>A (p.Thr237=) | |
| 18 | g.23556445G>A | CA401778229 | NPC1 | c.1124C>T (p.Thr375Ile) n.1038C>T c.406C>T c.1175C>T (p.Thr392Ile) c.710C>T (p.Thr237Ile) | |
| 18 | g.23556445G>C | CA401778231 | NPC1 | c.1124C>G (p.Thr375Ser) n.1038C>G c.406C>G c.1175C>G (p.Thr392Ser) c.710C>G (p.Thr237Ser) | |
| 18 | g.23556445G>T | CA401778226 | NPC1 | c.1124C>A (p.Thr375Asn) n.1038C>A c.406C>A c.1175C>A (p.Thr392Asn) c.710C>A (p.Thr237Asn) | |
| 18 | g.23556446T>A | CA401778235 | NPC1 | c.1123A>T (p.Thr375Ser) n.1037A>T c.405A>T c.1174A>T (p.Thr392Ser) c.709A>T (p.Thr237Ser) | |
| 18 | g.23556446T>C | CA8913531 | NPC1 | c.1123A>G (p.Thr375Ala) n.1037A>G c.405A>G c.1174A>G (p.Thr392Ala) c.709A>G (p.Thr237Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556446T>G | CA401778240 | NPC1 | c.1123A>C (p.Thr375Pro) n.1037A>C c.405A>C c.1174A>C (p.Thr392Pro) c.709A>C (p.Thr237Pro) | |
| 18 | g.23556446T= | CA2290173731 | NPC1 | c.1123A= (p.Thr375=) n.1037A= c.405A= c.1174A= (p.Thr392=) c.709A= (p.Thr237=) | |
| 18 | g.23556447T>A | CA503325168 | NPC1 | c.1122A>T (p.Thr374=) n.1036A>T c.404A>T c.1173A>T (p.Thr391=) c.708A>T (p.Thr236=) | |
| 18 | g.23556447T>C | CA503325169 | NPC1 | c.1122A>G (p.Thr374=) n.1036A>G c.404A>G c.1173A>G (p.Thr391=) c.708A>G (p.Thr236=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556447T>G | CA503325170 | NPC1 | c.1122A>C (p.Thr374=) n.1036A>C c.404A>C c.1173A>C (p.Thr391=) c.708A>C (p.Thr236=) | |
| 18 | g.23556447T= | CA2290173732 | NPC1 | c.1122A= (p.Thr374=) n.1036A= c.404A= c.1173A= (p.Thr391=) c.708A= (p.Thr236=) | |
| 18 | g.23556449_23556472dup | CA2641274350 | NPC1 | c.1099_1122dup (p.Thr374_Thr375insGlyLeuValPheValArgValThr) n.1013_1036dup c.381_404dup c.1150_1173dup (p.Thr391_Thr392insGlyLeuValPheValArgValThr) c.685_708dup (p.Thr236_Thr237insGlyLeuValPheValArgValThr) | gnomAD v4 |
| 18 | g.23556448G>A | CA401778243 | NPC1 | c.1121C>T (p.Thr374Ile) n.1035C>T c.403C>T c.1172C>T (p.Thr391Ile) c.707C>T (p.Thr236Ile) | |
| 18 | g.23556448G>C | CA401778246 | NPC1 | c.1121C>G (p.Thr374Arg) n.1035C>G c.403C>G c.1172C>G (p.Thr391Arg) c.707C>G (p.Thr236Arg) | |
| 18 | g.23556448G>T | CA401778249 | NPC1 | c.1121C>A (p.Thr374Lys) n.1035C>A c.403C>A c.1172C>A (p.Thr391Lys) c.707C>A (p.Thr236Lys) | |
| 18 | g.23556449T>A | CA401778253 | NPC1 | c.1120A>T (p.Thr374Ser) n.1034A>T c.402A>T c.1171A>T (p.Thr391Ser) c.706A>T (p.Thr236Ser) | |
| 18 | g.23556449T>C | CA401778256 | NPC1 | c.1120A>G (p.Thr374Ala) n.1034A>G c.402A>G c.1171A>G (p.Thr391Ala) c.706A>G (p.Thr236Ala) | gnomAD v4 |
| 18 | g.23556449T>G | CA401778258 | NPC1 | c.1120A>C (p.Thr374Pro) n.1034A>C c.402A>C c.1171A>C (p.Thr391Pro) c.706A>C (p.Thr236Pro) | |
| 18 | g.23556450G>A | CA503325171 | NPC1 | c.1119C>T (p.Val373=) n.1033C>T c.401C>T c.1170C>T (p.Val390=) c.705C>T (p.Val235=) | |
| 18 | g.23556450G>C | CA503325172 | NPC1 | c.1119C>G (p.Val373=) n.1033C>G c.401C>G c.1170C>G (p.Val390=) c.705C>G (p.Val235=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556450G= | CA2290173733 | NPC1 | c.1119C= (p.Val373=) n.1033C= c.401C= c.1170C= (p.Val390=) c.705C= (p.Val235=) | |
| 18 | g.23556450G>T | CA503325173 | NPC1 | c.1119C>A (p.Val373=) n.1033C>A c.401C>A c.1170C>A (p.Val390=) c.705C>A (p.Val235=) | |
| 18 | g.23556451A>C | CA401778261 | NPC1 | c.1118T>G (p.Val373Gly) n.1032T>G c.400T>G c.1169T>G (p.Val390Gly) c.704T>G (p.Val235Gly) | |
| 18 | g.23556451A>G | CA401778262 | NPC1 | c.1118T>C (p.Val373Ala) n.1032T>C c.400T>C c.1169T>C (p.Val390Ala) c.704T>C (p.Val235Ala) | |
| 18 | g.23556451A>T | CA401778263 | NPC1 | c.1118T>A (p.Val373Asp) n.1032T>A c.400T>A c.1169T>A (p.Val390Asp) c.704T>A (p.Val235Asp) | |
| 18 | g.23556452C>A | CA401778267 | NPC1 | c.1117G>T (p.Val373Phe) n.1031G>T c.399G>T c.1168G>T (p.Val390Phe) c.703G>T (p.Val235Phe) | gnomAD v4 |
| 18 | g.23556452C= | CA2290173734 | NPC1 | c.1117G= (p.Val373=) n.1031G= c.399G= c.1168G= (p.Val390=) c.703G= (p.Val235=) | |
| 18 | g.23556452C>G | CA401778268 | NPC1 | c.1117G>C (p.Val373Leu) n.1031G>C c.399G>C c.1168G>C (p.Val390Leu) c.703G>C (p.Val235Leu) | |
| 18 | g.23556452C>T | CA8913532 | NPC1 | c.1117G>A (p.Val373Ile) n.1031G>A c.399G>A c.1168G>A (p.Val390Ile) c.703G>A (p.Val235Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556453C>A | CA503325174 | NPC1 | c.1116G>T (p.Arg372=) n.1030G>T c.398G>T c.1167G>T (p.Arg389=) c.702G>T (p.Arg234=) | |
| 18 | g.23556453C= | CA2290173735 | NPC1 | c.1116G= (p.Arg372=) n.1030G= c.398G= c.1167G= (p.Arg389=) c.702G= (p.Arg234=) | |
| 18 | g.23556453C>G | CA503325175 | NPC1 | c.1116G>C (p.Arg372=) n.1030G>C c.398G>C c.1167G>C (p.Arg389=) c.702G>C (p.Arg234=) | dbSNP gnomAD v4 |
| 18 | g.23556453C>T | CA297069556 | NPC1 | c.1116G>A (p.Arg372=) n.1030G>A c.398G>A c.1167G>A (p.Arg389=) c.702G>A (p.Arg234=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 18 | g.23556454C>A | CA401778270 | NPC1 | c.1115G>T (p.Arg372Leu) n.1029G>T c.397G>T c.1166G>T (p.Arg389Leu) c.701G>T (p.Arg234Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556454C= | CA2290173736 | NPC1 | c.1115G= (p.Arg372=) n.1029G= c.397G= c.1166G= (p.Arg389=) c.701G= (p.Arg234=) | |
| 18 | g.23556454C>G | CA401778273 | NPC1 | c.1115G>C (p.Arg372Pro) n.1029G>C c.397G>C c.1166G>C (p.Arg389Pro) c.701G>C (p.Arg234Pro) | |
| 18 | g.23556454C>T | CA8913533 | NPC1 | c.1115G>A (p.Arg372Gln) n.1029G>A c.397G>A c.1166G>A (p.Arg389Gln) c.701G>A (p.Arg234Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556454_23556455insA | CA2499225068 | NPC1 | c.1114_1115insT (p.Arg372LeufsTer8) n.1028_1029insT c.396_397insT c.1165_1166insT (p.Arg389LeufsTer8) c.700_701insT (p.Arg234LeufsTer8) | ClinVar dbSNP |
| 18 | g.23556455G>A | CA401778276 | NPC1 | c.1114C>T (p.Arg372Trp) n.1028C>T c.396C>T c.1165C>T (p.Arg389Trp) c.700C>T (p.Arg234Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556455G>C | CA401778278 | NPC1 | c.1114C>G (p.Arg372Gly) n.1028C>G c.396C>G c.1165C>G (p.Arg389Gly) c.700C>G (p.Arg234Gly) | gnomAD v4 |
| 18 | g.23556455G= | CA2290173737 | NPC1 | c.1114C= (p.Arg372=) n.1028C= c.396C= c.1165C= (p.Arg389=) c.700C= (p.Arg234=) | |
| 18 | g.23556455G>T | CA503325176 | NPC1 | c.1114C>A (p.Arg372=) n.1028C>A c.396C>A c.1165C>A (p.Arg389=) c.700C>A (p.Arg234=) | |
| 18 | g.23556456G>A | CA503325179 | NPC1 | c.1113C>T (p.Val371=) n.1027C>T c.395C>T c.1164C>T (p.Val388=) c.699C>T (p.Val233=) | |
| 18 | g.23556456G>C | CA503325178 | NPC1 | c.1113C>G (p.Val371=) n.1027C>G c.395C>G c.1164C>G (p.Val388=) c.699C>G (p.Val233=) | |
| 18 | g.23556456G>T | CA503325177 | NPC1 | c.1113C>A (p.Val371=) n.1027C>A c.395C>A c.1164C>A (p.Val388=) c.699C>A (p.Val233=) | |
| 18 | g.23556456_23556459del | CA2580095677 | NPC1 | c.1110_1113del (p.Val371GlyfsTer?) n.1024_1027del c.392_395del c.1161_1164del (p.Val388GlyfsTer?) c.696_699del (p.Val233GlyfsTer?) | ClinVar |
| 18 | g.23556457A>C | CA401778284 | NPC1 | c.1112T>G (p.Val371Gly) n.1026T>G c.394T>G c.1163T>G (p.Val388Gly) c.698T>G (p.Val233Gly) |