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.23548060T>A | CA401773700 | NPC1 | c.1703A>T (p.Asn568Ile) n.1617A>T c.836-2911A>T c.1754A>T (p.Asn585Ile) c.1289A>T (p.Asn430Ile) | |
| 18 | g.23548060T>C | CA401773704 | NPC1 | c.1703A>G (p.Asn568Ser) n.1617A>G c.836-2911A>G c.1754A>G (p.Asn585Ser) c.1289A>G (p.Asn430Ser) | dbSNP |
| 18 | g.23548060T>G | CA401773707 | NPC1 | c.1703A>C (p.Asn568Thr) n.1617A>C c.836-2911A>C c.1754A>C (p.Asn585Thr) c.1289A>C (p.Asn430Thr) | |
| 18 | g.23548060T= | CA2290169757 | NPC1 | c.1703A= (p.Asn568=) n.1617A= c.836-2911A= c.1754A= (p.Asn585=) c.1289A= (p.Asn430=) | |
| 18 | g.23548061T>A | CA401773716 | NPC1 | c.1702A>T (p.Asn568Tyr) n.1616A>T c.836-2912A>T c.1753A>T (p.Asn585Tyr) c.1288A>T (p.Asn430Tyr) | |
| 18 | g.23548061T>C | CA401773713 | NPC1 | c.1702A>G (p.Asn568Asp) n.1616A>G c.836-2912A>G c.1753A>G (p.Asn585Asp) c.1288A>G (p.Asn430Asp) | gnomAD v4 |
| 18 | g.23548061T>G | CA8913391 | NPC1 | c.1702A>C (p.Asn568His) n.1616A>C c.836-2912A>C c.1753A>C (p.Asn585His) c.1288A>C (p.Asn430His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23548061T= | CA2290169758 | NPC1 | c.1702A= (p.Asn568=) n.1616A= c.836-2912A= c.1753A= (p.Asn585=) c.1288A= (p.Asn430=) | |
| 18 | g.23548062G>A | CA503324805 | NPC1 | c.1701C>T (p.Val567=) n.1615C>T c.836-2913C>T c.1752C>T (p.Val584=) c.1287C>T (p.Val429=) | |
| 18 | g.23548062G>C | CA8913392 | NPC1 | c.1701C>G (p.Val567=) n.1615C>G c.836-2913C>G c.1752C>G (p.Val584=) c.1287C>G (p.Val429=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23548062G= | CA2290169759 | NPC1 | c.1701C= (p.Val567=) n.1615C= c.836-2913C= c.1752C= (p.Val584=) c.1287C= (p.Val429=) | |
| 18 | g.23548062G>T | CA503324806 | NPC1 | c.1701C>A (p.Val567=) n.1615C>A c.836-2913C>A c.1752C>A (p.Val584=) c.1287C>A (p.Val429=) | gnomAD v4 |
| 18 | g.23548063A>C | CA401773723 | NPC1 | c.1700T>G (p.Val567Gly) n.1614T>G c.836-2914T>G c.1751T>G (p.Val584Gly) c.1286T>G (p.Val429Gly) | |
| 18 | g.23548063A>G | CA401773726 | NPC1 | c.1700T>C (p.Val567Ala) n.1614T>C c.836-2914T>C c.1751T>C (p.Val584Ala) c.1286T>C (p.Val429Ala) | |
| 18 | g.23548063A>T | CA401773729 | NPC1 | c.1700T>A (p.Val567Asp) n.1614T>A c.836-2914T>A c.1751T>A (p.Val584Asp) c.1286T>A (p.Val429Asp) | |
| 18 | g.23548064C>A | CA401773733 | NPC1 | c.1699G>T (p.Val567Phe) n.1613G>T c.836-2915G>T c.1750G>T (p.Val584Phe) c.1285G>T (p.Val429Phe) | dbSNP |
| 18 | g.23548064C>G | CA401773737 | NPC1 | c.1699G>C (p.Val567Leu) n.1613G>C c.836-2915G>C c.1750G>C (p.Val584Leu) c.1285G>C (p.Val429Leu) | |
| 18 | g.23548064C>T | CA401773742 | NPC1 | c.1699G>A (p.Val567Ile) n.1613G>A c.836-2915G>A c.1750G>A (p.Val584Ile) c.1285G>A (p.Val429Ile) | |
| 18 | g.23548065A>C | CA503324807 | NPC1 | c.1698T>G (p.Pro566=) n.1612T>G c.836-2916T>G c.1749T>G (p.Pro583=) c.1284T>G (p.Pro428=) | |
| 18 | g.23548065A>G | CA503324808 | NPC1 | c.1698T>C (p.Pro566=) n.1612T>C c.836-2916T>C c.1749T>C (p.Pro583=) c.1284T>C (p.Pro428=) | |
| 18 | g.23548065A>T | CA503324809 | NPC1 | c.1698T>A (p.Pro566=) n.1612T>A c.836-2916T>A c.1749T>A (p.Pro583=) c.1284T>A (p.Pro428=) | |
| 18 | g.23548066G>A | CA401773746 | NPC1 | c.1697C>T (p.Pro566Leu) n.1611C>T c.836-2917C>T c.1748C>T (p.Pro583Leu) c.1283C>T (p.Pro428Leu) | |
| 18 | g.23548066G>C | CA401773748 | NPC1 | c.1697C>G (p.Pro566Arg) n.1611C>G c.836-2917C>G c.1748C>G (p.Pro583Arg) c.1283C>G (p.Pro428Arg) | |
| 18 | g.23548066G>T | CA401773751 | NPC1 | c.1697C>A (p.Pro566His) n.1611C>A c.836-2917C>A c.1748C>A (p.Pro583His) c.1283C>A (p.Pro428His) | gnomAD v4 COSMIC |
| 18 | g.23548067G>A | CA8913393 | NPC1 | c.1696C>T (p.Pro566Ser) n.1610C>T c.836-2918C>T c.1747C>T (p.Pro583Ser) c.1282C>T (p.Pro428Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23548067G>C | CA401773759 | NPC1 | c.1696C>G (p.Pro566Ala) n.1610C>G c.836-2918C>G c.1747C>G (p.Pro583Ala) c.1282C>G (p.Pro428Ala) | |
| 18 | g.23548067G= | CA2290169760 | NPC1 | c.1696C= (p.Pro566=) n.1610C= c.836-2918C= c.1747C= (p.Pro583=) c.1282C= (p.Pro428=) | |
| 18 | g.23548067G>T | CA401773762 | NPC1 | c.1696C>A (p.Pro566Thr) n.1610C>A c.836-2918C>A c.1747C>A (p.Pro583Thr) c.1282C>A (p.Pro428Thr) | |
| 18 | g.23548068G>A | CA8913394 | NPC1 | c.1695C>T (p.Phe565=) n.1609C>T c.836-2919C>T c.1746C>T (p.Phe582=) c.1281C>T (p.Phe427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23548068G>C | CA401773772 | NPC1 | c.1695C>G (p.Phe565Leu) n.1609C>G c.836-2919C>G c.1746C>G (p.Phe582Leu) c.1281C>G (p.Phe427Leu) | |
| 18 | g.23548068G= | CA2290169761 | NPC1 | c.1695C= (p.Phe565=) n.1609C= c.836-2919C= c.1746C= (p.Phe582=) c.1281C= (p.Phe427=) | |
| 18 | g.23548068G>T | CA401773766 | NPC1 | c.1695C>A (p.Phe565Leu) n.1609C>A c.836-2919C>A c.1746C>A (p.Phe582Leu) c.1281C>A (p.Phe427Leu) | |
| 18 | g.23548069A>C | CA401773777 | NPC1 | c.1694T>G (p.Phe565Cys) n.1608T>G c.836-2920T>G c.1745T>G (p.Phe582Cys) c.1280T>G (p.Phe427Cys) | |
| 18 | g.23548069A>G | CA401773783 | NPC1 | c.1694T>C (p.Phe565Ser) n.1608T>C c.836-2920T>C c.1745T>C (p.Phe582Ser) c.1280T>C (p.Phe427Ser) | |
| 18 | g.23548069A>T | CA401773779 | NPC1 | c.1694T>A (p.Phe565Tyr) n.1608T>A c.836-2920T>A c.1745T>A (p.Phe582Tyr) c.1280T>A (p.Phe427Tyr) | |
| 18 | g.23548070A>C | CA401773786 | NPC1 | c.1693T>G (p.Phe565Val) n.1607T>G c.836-2921T>G c.1744T>G (p.Phe582Val) c.1279T>G (p.Phe427Val) | |
| 18 | g.23548070A>G | CA401773789 | NPC1 | c.1693T>C (p.Phe565Leu) n.1607T>C c.836-2921T>C c.1744T>C (p.Phe582Leu) c.1279T>C (p.Phe427Leu) | |
| 18 | g.23548070A>T | CA401773794 | NPC1 | c.1693T>A (p.Phe565Ile) n.1607T>A c.836-2921T>A c.1744T>A (p.Phe582Ile) c.1279T>A (p.Phe427Ile) | |
| 18 | g.23548071G>A | CA503324812 | NPC1 | c.1692C>T (p.Thr564=) n.1606C>T c.836-2922C>T c.1743C>T (p.Thr581=) c.1278C>T (p.Thr426=) | gnomAD v4 |
| 18 | g.23548071G>C | CA503324811 | NPC1 | c.1692C>G (p.Thr564=) n.1606C>G c.836-2922C>G c.1743C>G (p.Thr581=) c.1278C>G (p.Thr426=) | gnomAD v4 |
| 18 | g.23548071G>T | CA503324810 | NPC1 | c.1692C>A (p.Thr564=) n.1606C>A c.836-2922C>A c.1743C>A (p.Thr581=) c.1278C>A (p.Thr426=) | |
| 18 | g.23548072del | CA2641271557 | NPC1 | c.1692del (p.Phe565SerfsTer27) n.1606del c.836-2922del c.1743del (p.Phe582SerfsTer27) c.1278del (p.Phe427SerfsTer27) | gnomAD v4 |
| 18 | g.23548072G>A | CA401773797 | NPC1 | c.1691C>T (p.Thr564Ile) n.1605C>T c.836-2923C>T c.1742C>T (p.Thr581Ile) c.1277C>T (p.Thr426Ile) | gnomAD v4 |
| 18 | g.23548072G>C | CA401773800 | NPC1 | c.1691C>G (p.Thr564Ser) n.1605C>G c.836-2923C>G c.1742C>G (p.Thr581Ser) c.1277C>G (p.Thr426Ser) | |
| 18 | g.23548072G= | CA2290169762 | NPC1 | c.1691C= (p.Thr564=) n.1605C= c.836-2923C= c.1742C= (p.Thr581=) c.1277C= (p.Thr426=) | |
| 18 | g.23548072G>T | CA401773804 | NPC1 | c.1691C>A (p.Thr564Asn) n.1605C>A c.836-2923C>A c.1742C>A (p.Thr581Asn) c.1277C>A (p.Thr426Asn) | dbSNP gnomAD v4 |
| 18 | g.23548073T>A | CA401773809 | NPC1 | c.1690A>T (p.Thr564Ser) n.1604A>T c.836-2924A>T c.1741A>T (p.Thr581Ser) c.1276A>T (p.Thr426Ser) | |
| 18 | g.23548073T>C | CA401773812 | NPC1 | c.1690A>G (p.Thr564Ala) n.1604A>G c.836-2924A>G c.1741A>G (p.Thr581Ala) c.1276A>G (p.Thr426Ala) | |
| 18 | g.23548073T>G | CA401773815 | NPC1 | c.1690A>C (p.Thr564Pro) n.1604A>C c.836-2924A>C c.1741A>C (p.Thr581Pro) c.1276A>C (p.Thr426Pro) | |
| 18 | g.23548074A>C | CA401773820 | NPC1 | c.1689T>G (p.Ile563Met) n.1603T>G c.836-2925T>G c.1740T>G (p.Ile580Met) c.1275T>G (p.Ile425Met) |