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.23556340A= | CA2290173687 | NPC1 | c.1229T= (p.Ile410=) n.1143T= c.511T= c.1280T= (p.Ile427=) c.815T= (p.Ile272=) | |
| 18 | g.23556340A>C | CA401777530 | NPC1 | c.1229T>G (p.Ile410Ser) n.1143T>G c.511T>G c.1280T>G (p.Ile427Ser) c.815T>G (p.Ile272Ser) | |
| 18 | g.23556340A>G | CA297069438 | NPC1 | c.1229T>C (p.Ile410Thr) n.1143T>C c.511T>C c.1280T>C (p.Ile427Thr) c.815T>C (p.Ile272Thr) | dbSNP gnomAD v4 |
| 18 | g.23556340A>T | CA401777526 | NPC1 | c.1229T>A (p.Ile410Asn) n.1143T>A c.511T>A c.1280T>A (p.Ile427Asn) c.815T>A (p.Ile272Asn) | |
| 18 | g.23556341T>A | CA401777534 | NPC1 | c.1228A>T (p.Ile410Phe) n.1142A>T c.510A>T c.1279A>T (p.Ile427Phe) c.814A>T (p.Ile272Phe) | |
| 18 | g.23556341T>C | CA401777536 | NPC1 | c.1228A>G (p.Ile410Val) n.1142A>G c.510A>G c.1279A>G (p.Ile427Val) c.814A>G (p.Ile272Val) | |
| 18 | g.23556341T>G | CA401777539 | NPC1 | c.1228A>C (p.Ile410Leu) n.1142A>C c.510A>C c.1279A>C (p.Ile427Leu) c.814A>C (p.Ile272Leu) | |
| 18 | g.23556342G>A | CA503325107 | NPC1 | c.1227C>T (p.Ile409=) n.1141C>T c.509C>T c.1278C>T (p.Ile426=) c.813C>T (p.Ile271=) | dbSNP gnomAD v4 |
| 18 | g.23556342G>C | CA401777542 | NPC1 | c.1227C>G (p.Ile409Met) n.1141C>G c.509C>G c.1278C>G (p.Ile426Met) c.813C>G (p.Ile271Met) | |
| 18 | g.23556342G= | CA2290173688 | NPC1 | c.1227C= (p.Ile409=) n.1141C= c.509C= c.1278C= (p.Ile426=) c.813C= (p.Ile271=) | |
| 18 | g.23556342G>T | CA503325108 | NPC1 | c.1227C>A (p.Ile409=) n.1141C>A c.509C>A c.1278C>A (p.Ile426=) c.813C>A (p.Ile271=) | |
| 18 | g.23556343A>C | CA401777545 | NPC1 | c.1226T>G (p.Ile409Ser) n.1140T>G c.508T>G c.1277T>G (p.Ile426Ser) c.812T>G (p.Ile271Ser) | |
| 18 | g.23556343A>G | CA401777547 | NPC1 | c.1226T>C (p.Ile409Thr) n.1140T>C c.508T>C c.1277T>C (p.Ile426Thr) c.812T>C (p.Ile271Thr) | gnomAD v4 |
| 18 | g.23556343A>T | CA401777549 | NPC1 | c.1226T>A (p.Ile409Asn) n.1140T>A c.508T>A c.1277T>A (p.Ile426Asn) c.812T>A (p.Ile271Asn) | |
| 18 | g.23556344T>A | CA401777553 | NPC1 | c.1225A>T (p.Ile409Phe) n.1139A>T c.507A>T c.1276A>T (p.Ile426Phe) c.811A>T (p.Ile271Phe) | |
| 18 | g.23556344T>C | CA401777558 | NPC1 | c.1225A>G (p.Ile409Val) n.1139A>G c.507A>G c.1276A>G (p.Ile426Val) c.811A>G (p.Ile271Val) | |
| 18 | g.23556344T>G | CA401777556 | NPC1 | c.1225A>C (p.Ile409Leu) n.1139A>C c.507A>C c.1276A>C (p.Ile426Leu) c.811A>C (p.Ile271Leu) | gnomAD v4 |
| 18 | g.23556345G>A | CA8913514 | NPC1 | c.1224C>T (p.Leu408=) n.1138C>T c.506C>T c.1275C>T (p.Leu425=) c.810C>T (p.Leu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23556345G>C | CA503325110 | NPC1 | c.1224C>G (p.Leu408=) n.1138C>G c.506C>G c.1275C>G (p.Leu425=) c.810C>G (p.Leu270=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556345G= | CA2290173689 | NPC1 | c.1224C= (p.Leu408=) n.1138C= c.506C= c.1275C= (p.Leu425=) c.810C= (p.Leu270=) | |
| 18 | g.23556345G>T | CA503325109 | NPC1 | c.1224C>A (p.Leu408=) n.1138C>A c.506C>A c.1275C>A (p.Leu425=) c.810C>A (p.Leu270=) | |
| 18 | g.23556346A= | CA2290173690 | NPC1 | c.1223T= (p.Leu408=) n.1137T= c.505T= c.1274T= (p.Leu425=) c.809T= (p.Leu270=) | |
| 18 | g.23556346A>C | CA401777563 | NPC1 | c.1223T>G (p.Leu408Arg) n.1137T>G c.505T>G c.1274T>G (p.Leu425Arg) c.809T>G (p.Leu270Arg) | |
| 18 | g.23556346A>G | CA401777565 | NPC1 | c.1223T>C (p.Leu408Pro) n.1137T>C c.505T>C c.1274T>C (p.Leu425Pro) c.809T>C (p.Leu270Pro) | ClinVar dbSNP |
| 18 | g.23556346A>T | CA401777568 | NPC1 | c.1223T>A (p.Leu408His) n.1137T>A c.505T>A c.1274T>A (p.Leu425His) c.809T>A (p.Leu270His) | |
| 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=) |