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.23556339_23556350dup | CA628978849 | NPC1 | c.1220_1231dup (p.Ile410_Arg411insGlnLeuIleIle) n.1134_1145dup c.502_513dup c.1271_1282dup (p.Ile427_Arg428insGlnLeuIleIle) c.806_817dup (p.Ile272_Arg273insGlnLeuIleIle) | gnomAD v2 gnomAD v4 |
| 18 | g.23556347G>A | CA401777571 | NPC1 | c.1222C>T (p.Leu408Phe) n.1136C>T c.504C>T c.1273C>T (p.Leu425Phe) c.808C>T (p.Leu270Phe) | |
| 18 | g.23556347G>C | CA401777576 | NPC1 | c.1222C>G (p.Leu408Val) n.1136C>G c.504C>G c.1273C>G (p.Leu425Val) c.808C>G (p.Leu270Val) | |
| 18 | g.23556347G>T | CA401777574 | NPC1 | c.1222C>A (p.Leu408Ile) n.1136C>A c.504C>A c.1273C>A (p.Leu425Ile) c.808C>A (p.Leu270Ile) | |
| 18 | g.23556348C>A | CA401777579 | NPC1 | c.1221G>T (p.Gln407His) n.1135G>T c.503G>T c.1272G>T (p.Gln424His) c.807G>T (p.Gln269His) | |
| 18 | g.23556348C= | CA2290173691 | NPC1 | c.1221G= (p.Gln407=) n.1135G= c.503G= c.1272G= (p.Gln424=) c.807G= (p.Gln269=) | |
| 18 | g.23556348C>G | CA8913515 | NPC1 | c.1221G>C (p.Gln407His) n.1135G>C c.503G>C c.1272G>C (p.Gln424His) c.807G>C (p.Gln269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556348C>T | CA503325111 | NPC1 | c.1221G>A (p.Gln407=) n.1135G>A c.503G>A c.1272G>A (p.Gln424=) c.807G>A (p.Gln269=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23556349T>A | CA401777583 | NPC1 | c.1220A>T (p.Gln407Leu) n.1134A>T c.502A>T c.1271A>T (p.Gln424Leu) c.806A>T (p.Gln269Leu) | |
| 18 | g.23556349T>C | CA401777586 | NPC1 | c.1220A>G (p.Gln407Arg) n.1134A>G c.502A>G c.1271A>G (p.Gln424Arg) c.806A>G (p.Gln269Arg) | |
| 18 | g.23556349T>G | CA401777588 | NPC1 | c.1220A>C (p.Gln407Pro) n.1134A>C c.502A>C c.1271A>C (p.Gln424Pro) c.806A>C (p.Gln269Pro) | |
| 18 | g.23556350G>A | CA8913516 | NPC1 | c.1219C>T (p.Gln407Ter) n.1133C>T c.501C>T c.1270C>T (p.Gln424Ter) c.805C>T (p.Gln269Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556350G>C | CA401777592 | NPC1 | c.1219C>G (p.Gln407Glu) n.1133C>G c.501C>G c.1270C>G (p.Gln424Glu) c.805C>G (p.Gln269Glu) | gnomAD v4 |
| 18 | g.23556350G= | CA2290173692 | NPC1 | c.1219C= (p.Gln407=) n.1133C= c.501C= c.1270C= (p.Gln424=) c.805C= (p.Gln269=) | |
| 18 | g.23556350G>T | CA401777594 | NPC1 | c.1219C>A (p.Gln407Lys) n.1133C>A c.501C>A c.1270C>A (p.Gln424Lys) c.805C>A (p.Gln269Lys) | |
| 18 | g.23556351C>A | CA401777597 | NPC1 | c.1218G>T (p.Glu406Asp) n.1132G>T c.500G>T c.1269G>T (p.Glu423Asp) c.804G>T (p.Glu268Asp) | |
| 18 | g.23556351C>G | CA401777600 | NPC1 | c.1218G>C (p.Glu406Asp) n.1132G>C c.500G>C c.1269G>C (p.Glu423Asp) c.804G>C (p.Glu268Asp) | |
| 18 | g.23556351C>T | CA503325112 | NPC1 | c.1218G>A (p.Glu406=) n.1132G>A c.500G>A c.1269G>A (p.Glu423=) c.804G>A (p.Glu268=) | gnomAD v4 |
| 18 | g.23556352T>A | CA401777608 | NPC1 | c.1217A>T (p.Glu406Val) n.1131A>T c.499A>T c.1268A>T (p.Glu423Val) c.803A>T (p.Glu268Val) | |
| 18 | g.23556352T>C | CA401777603 | NPC1 | c.1217A>G (p.Glu406Gly) n.1131A>G c.499A>G c.1268A>G (p.Glu423Gly) c.803A>G (p.Glu268Gly) | |
| 18 | g.23556352T>G | CA401777605 | NPC1 | c.1217A>C (p.Glu406Ala) n.1131A>C c.499A>C c.1268A>C (p.Glu423Ala) c.803A>C (p.Glu268Ala) | |
| 18 | g.23556353C>A | CA401777610 | NPC1 | c.1216G>T (p.Glu406Ter) n.1130G>T c.498G>T c.1267G>T (p.Glu423Ter) c.802G>T (p.Glu268Ter) | |
| 18 | g.23556353C>G | CA401777614 | NPC1 | c.1216G>C (p.Glu406Gln) n.1130G>C c.498G>C c.1267G>C (p.Glu423Gln) c.802G>C (p.Glu268Gln) | |
| 18 | g.23556353C>T | CA401777612 | NPC1 | c.1216G>A (p.Glu406Lys) n.1130G>A c.498G>A c.1267G>A (p.Glu423Lys) c.802G>A (p.Glu268Lys) | |
| 18 | g.23556354C>A | CA503325113 | NPC1 | c.1215G>T (p.Thr405=) n.1129G>T c.497G>T c.1266G>T (p.Thr422=) c.801G>T (p.Thr267=) | |
| 18 | g.23556354C= | CA2290173693 | NPC1 | c.1215G= (p.Thr405=) n.1129G= c.497G= c.1266G= (p.Thr422=) c.801G= (p.Thr267=) | |
| 18 | g.23556354C>G | CA503325114 | NPC1 | c.1215G>C (p.Thr405=) n.1129G>C c.497G>C c.1266G>C (p.Thr422=) c.801G>C (p.Thr267=) | |
| 18 | g.23556354C>T | CA8913517 | NPC1 | c.1215G>A (p.Thr405=) n.1129G>A c.497G>A c.1266G>A (p.Thr422=) c.801G>A (p.Thr267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556355G>A | CA8913518 | NPC1 | c.1214C>T (p.Thr405Met) n.1128C>T c.496C>T c.1265C>T (p.Thr422Met) c.800C>T (p.Thr267Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556355G>C | CA401777620 | NPC1 | c.1214C>G (p.Thr405Arg) n.1128C>G c.496C>G c.1265C>G (p.Thr422Arg) c.800C>G (p.Thr267Arg) | |
| 18 | g.23556355G= | CA2290173694 | NPC1 | c.1214C= (p.Thr405=) n.1128C= c.496C= c.1265C= (p.Thr422=) c.800C= (p.Thr267=) | |
| 18 | g.23556355G>T | CA401777622 | NPC1 | c.1214C>A (p.Thr405Lys) n.1128C>A c.496C>A c.1265C>A (p.Thr422Lys) c.800C>A (p.Thr267Lys) | |
| 18 | g.23556356T>A | CA401777626 | NPC1 | c.1213A>T (p.Thr405Ser) n.1127A>T c.495A>T c.1264A>T (p.Thr422Ser) c.799A>T (p.Thr267Ser) | |
| 18 | g.23556356T>C | CA401777629 | NPC1 | c.1213A>G (p.Thr405Ala) n.1127A>G c.495A>G c.1264A>G (p.Thr422Ala) c.799A>G (p.Thr267Ala) | |
| 18 | g.23556356T>G | CA401777630 | NPC1 | c.1213A>C (p.Thr405Pro) n.1127A>C c.495A>C c.1264A>C (p.Thr422Pro) c.799A>C (p.Thr267Pro) | |
| 18 | g.23556357C>A | CA503325115 | NPC1 | c.1212G>T (p.Arg404=) n.1126G>T c.494G>T c.1263G>T (p.Arg421=) c.798G>T (p.Arg266=) | |
| 18 | g.23556357C>G | CA503325117 | NPC1 | c.1212G>C (p.Arg404=) n.1126G>C c.494G>C c.1263G>C (p.Arg421=) c.798G>C (p.Arg266=) | gnomAD v4 |
| 18 | g.23556357C>T | CA503325116 | NPC1 | c.1212G>A (p.Arg404=) n.1126G>A c.494G>A c.1263G>A (p.Arg421=) c.798G>A (p.Arg266=) | |
| 18 | g.23556358C>A | CA401777634 | NPC1 | c.1211G>T (p.Arg404Leu) n.1125G>T c.493G>T c.1262G>T (p.Arg421Leu) c.797G>T (p.Arg266Leu) | |
| 18 | g.23556358C= | CA2290173695 | NPC1 | c.1211G= (p.Arg404=) n.1125G= c.493G= c.1262G= (p.Arg421=) c.797G= (p.Arg266=) | |
| 18 | g.23556358C>G | CA401777636 | NPC1 | c.1211G>C (p.Arg404Pro) n.1125G>C c.493G>C c.1262G>C (p.Arg421Pro) c.797G>C (p.Arg266Pro) | |
| 18 | g.23556358C>T | CA273968 | NPC1 | c.1211G>A (p.Arg404Gln) n.1125G>A c.493G>A c.1262G>A (p.Arg421Gln) c.797G>A (p.Arg266Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556359G>A | CA401777639 | NPC1 | c.1210C>T (p.Arg404Trp) n.1124C>T c.492C>T c.1261C>T (p.Arg421Trp) c.796C>T (p.Arg266Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 18 | g.23556359G>C | CA401777641 | NPC1 | c.1210C>G (p.Arg404Gly) n.1124C>G c.492C>G c.1261C>G (p.Arg421Gly) c.796C>G (p.Arg266Gly) | |
| 18 | g.23556359G= | CA2290173696 | NPC1 | c.1210C= (p.Arg404=) n.1124C= c.492C= c.1261C= (p.Arg421=) c.796C= (p.Arg266=) | |
| 18 | g.23556359G>T | CA503325118 | NPC1 | c.1210C>A (p.Arg404=) n.1124C>A c.492C>A c.1261C>A (p.Arg421=) c.796C>A (p.Arg266=) | dbSNP |
| 18 | g.23556360del | CA2695227250 | NPC1 | c.1210del (p.Arg404GlyfsTer?) n.1124del c.492del c.1261del (p.Arg421GlyfsTer?) c.796del (p.Arg266GlyfsTer?) | |
| 18 | g.23556360G>A | CA503325119 | NPC1 | c.1209C>T (p.Phe403=) n.1123C>T c.491C>T c.1260C>T (p.Phe420=) c.795C>T (p.Phe265=) | |
| 18 | g.23556360G>C | CA401777644 | NPC1 | c.1209C>G (p.Phe403Leu) n.1123C>G c.491C>G c.1260C>G (p.Phe420Leu) c.795C>G (p.Phe265Leu) | gnomAD v4 |
| 18 | g.23556360G>T | CA401777646 | NPC1 | c.1209C>A (p.Phe403Leu) n.1123C>A c.491C>A c.1260C>A (p.Phe420Leu) c.795C>A (p.Phe265Leu) | gnomAD v4 |