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.23543523del | CA2573155262 | NPC1 | c.2179del (p.Val727SerfsTer2) n.2093del c.1257del c.2230del (p.Val744SerfsTer2) c.1765del (p.Val589SerfsTer2) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23543523C>A | CA401770870 | NPC1 | c.2177G>T (p.Arg726Met) n.2091G>T c.1255G>T c.2228G>T (p.Arg743Met) c.1763G>T (p.Arg588Met) | COSMIC |
| 18 | g.23543523C= | CA2290167636 | NPC1 | c.2177G= (p.Arg726=) n.2091G= c.1255G= c.2228G= (p.Arg743=) c.1763G= (p.Arg588=) | |
| 18 | g.23543523C>G | CA269827 | NPC1 | c.2177G>C (p.Arg726Thr) n.2091G>C c.1255G>C c.2228G>C (p.Arg743Thr) c.1763G>C (p.Arg588Thr) | ClinVar dbSNP |
| 18 | g.23543523C>T | CA401770871 | NPC1 | c.2177G>A (p.Arg726Lys) n.2091G>A c.1255G>A c.2228G>A (p.Arg743Lys) c.1763G>A (p.Arg588Lys) | |
| 18 | g.23543524T>A | CA401770872 | NPC1 | c.2176A>T (p.Arg726Trp) n.2090A>T c.1254A>T c.2227A>T (p.Arg743Trp) c.1762A>T (p.Arg588Trp) | |
| 18 | g.23543524T>C | CA401770873 | NPC1 | c.2176A>G (p.Arg726Gly) n.2090A>G c.1254A>G c.2227A>G (p.Arg743Gly) c.1762A>G (p.Arg588Gly) | gnomAD v4 |
| 18 | g.23543524T>G | CA503324618 | NPC1 | c.2176A>C (p.Arg726=) n.2090A>C c.1254A>C c.2227A>C (p.Arg743=) c.1762A>C (p.Arg588=) | |
| 18 | g.23543525G>A | CA503324619 | NPC1 | c.2175C>T (p.Gly725=) n.2089C>T c.1253C>T c.2226C>T (p.Gly742=) c.1761C>T (p.Gly587=) | gnomAD v4 |
| 18 | g.23543525G>C | CA503324621 | NPC1 | c.2175C>G (p.Gly725=) n.2089C>G c.1253C>G c.2226C>G (p.Gly742=) c.1761C>G (p.Gly587=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23543525G= | CA2290167637 | NPC1 | c.2175C= (p.Gly725=) n.2089C= c.1253C= c.2226C= (p.Gly742=) c.1761C= (p.Gly587=) | |
| 18 | g.23543525G>T | CA503324620 | NPC1 | c.2175C>A (p.Gly725=) n.2089C>A c.1253C>A c.2226C>A (p.Gly742=) c.1761C>A (p.Gly587=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 18 | g.23543525dup | CA2580095595 | NPC1 | c.2175dup (p.Arg726GlnfsTer17) n.2089dup c.1253dup c.2226dup (p.Arg743GlnfsTer17) c.1761dup (p.Arg588GlnfsTer17) | ClinVar |
| 18 | g.23543526C>A | CA401770875 | NPC1 | c.2174G>T (p.Gly725Val) n.2088G>T c.1252G>T c.2225G>T (p.Gly742Val) c.1760G>T (p.Gly587Val) | |
| 18 | g.23543526C>G | CA401770876 | NPC1 | c.2174G>C (p.Gly725Ala) n.2088G>C c.1252G>C c.2225G>C (p.Gly742Ala) c.1760G>C (p.Gly587Ala) | |
| 18 | g.23543526C>T | CA401770874 | NPC1 | c.2174G>A (p.Gly725Asp) n.2088G>A c.1252G>A c.2225G>A (p.Gly742Asp) c.1760G>A (p.Gly587Asp) | |
| 18 | g.23543528del | CA2580095596 | NPC1 | c.2174del (p.Gly725AlafsTer4) n.2088del c.1252del c.2225del (p.Gly742AlafsTer4) c.1760del (p.Gly587AlafsTer4) | ClinVar |
| 18 | g.23543527C>A | CA401770877 | NPC1 | c.2173G>T (p.Gly725Cys) n.2087G>T c.1251G>T c.2224G>T (p.Gly742Cys) c.1759G>T (p.Gly587Cys) | |
| 18 | g.23543527C= | CA2290167638 | NPC1 | c.2173G= (p.Gly725=) n.2087G= c.1251G= c.2224G= (p.Gly742=) c.1759G= (p.Gly587=) | |
| 18 | g.23543527C>G | CA401770878 | NPC1 | c.2173G>C (p.Gly725Arg) n.2087G>C c.1251G>C c.2224G>C (p.Gly742Arg) c.1759G>C (p.Gly587Arg) | |
| 18 | g.23543527C>T | CA401770879 | NPC1 | c.2173G>A (p.Gly725Ser) n.2087G>A c.1251G>A c.2224G>A (p.Gly742Ser) c.1759G>A (p.Gly587Ser) | dbSNP |
| 18 | g.23543528C>A | CA8913190 | NPC1 | c.2172G>T (p.Leu724=) n.2086G>T c.1250G>T c.2223G>T (p.Leu741=) c.1758G>T (p.Leu586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23543528C= | CA2290167639 | NPC1 | c.2172G= (p.Leu724=) n.2086G= c.1250G= c.2223G= (p.Leu741=) c.1758G= (p.Leu586=) | |
| 18 | g.23543528C>G | CA503324622 | NPC1 | c.2172G>C (p.Leu724=) n.2086G>C c.1250G>C c.2223G>C (p.Leu741=) c.1758G>C (p.Leu586=) | |
| 18 | g.23543528C>T | CA503324623 | NPC1 | c.2172G>A (p.Leu724=) n.2086G>A c.1250G>A c.2223G>A (p.Leu741=) c.1758G>A (p.Leu586=) | |
| 18 | g.23543529A= | CA2290167640 | NPC1 | c.2171T= (p.Leu724=) n.2085T= c.1249T= c.2222T= (p.Leu741=) c.1757T= (p.Leu586=) | |
| 18 | g.23543529A>C | CA401770880 | NPC1 | c.2171T>G (p.Leu724Arg) n.2085T>G c.1249T>G c.2222T>G (p.Leu741Arg) c.1757T>G (p.Leu586Arg) | |
| 18 | g.23543529A>G | CA401770881 | NPC1 | c.2171T>C (p.Leu724Pro) n.2085T>C c.1249T>C c.2222T>C (p.Leu741Pro) c.1757T>C (p.Leu586Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23543529A>T | CA401770882 | NPC1 | c.2171T>A (p.Leu724Gln) n.2085T>A c.1249T>A c.2222T>A (p.Leu741Gln) c.1757T>A (p.Leu586Gln) | |
| 18 | g.23543530del | CA2580095597 | NPC1 | c.2170del (p.Leu724TrpfsTer5) n.2084del c.1248del c.2221del (p.Leu741TrpfsTer5) c.1756del (p.Leu586TrpfsTer5) | ClinVar |
| 18 | g.23543530G>A | CA503324624 | NPC1 | c.2170C>T (p.Leu724=) n.2084C>T c.1248C>T c.2221C>T (p.Leu741=) c.1756C>T (p.Leu586=) | ClinVar gnomAD v4 |
| 18 | g.23543530G>C | CA401770883 | NPC1 | c.2170C>G (p.Leu724Val) n.2084C>G c.1248C>G c.2221C>G (p.Leu741Val) c.1756C>G (p.Leu586Val) | gnomAD v4 |
| 18 | g.23543530G>T | CA401770884 | NPC1 | c.2170C>A (p.Leu724Met) n.2084C>A c.1248C>A c.2221C>A (p.Leu741Met) c.1756C>A (p.Leu586Met) | gnomAD v4 |
| 18 | g.23543531C>A | CA401770885 | NPC1 | c.2169G>T (p.Gln723His) n.2083G>T c.1247G>T c.2220G>T (p.Gln740His) c.1755G>T (p.Gln585His) | |
| 18 | g.23543531C>G | CA401770886 | NPC1 | c.2169G>C (p.Gln723His) n.2083G>C c.1247G>C c.2220G>C (p.Gln740His) c.1755G>C (p.Gln585His) | |
| 18 | g.23543531C>T | CA503324625 | NPC1 | c.2169G>A (p.Gln723=) n.2083G>A c.1247G>A c.2220G>A (p.Gln740=) c.1755G>A (p.Gln585=) | ClinVar dbSNP |
| 18 | g.23543532T>A | CA401770887 | NPC1 | c.2168A>T (p.Gln723Leu) n.2082A>T c.1246A>T c.2219A>T (p.Gln740Leu) c.1754A>T (p.Gln585Leu) | |
| 18 | g.23543532T>C | CA401770888 | NPC1 | c.2168A>G (p.Gln723Arg) n.2082A>G c.1246A>G c.2219A>G (p.Gln740Arg) c.1754A>G (p.Gln585Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23543532T>G | CA401770889 | NPC1 | c.2168A>C (p.Gln723Pro) n.2082A>C c.1246A>C c.2219A>C (p.Gln740Pro) c.1754A>C (p.Gln585Pro) | |
| 18 | g.23543532T= | CA2290167641 | NPC1 | c.2168A= (p.Gln723=) n.2082A= c.1246A= c.2219A= (p.Gln740=) c.1754A= (p.Gln585=) | |
| 18 | g.23543533G>A | CA401770890 | NPC1 | c.2167C>T (p.Gln723Ter) n.2081C>T c.1245C>T c.2218C>T (p.Gln740Ter) c.1753C>T (p.Gln585Ter) | dbSNP |
| 18 | g.23543533G>C | CA401770892 | NPC1 | c.2167C>G (p.Gln723Glu) n.2081C>G c.1245C>G c.2218C>G (p.Gln740Glu) c.1753C>G (p.Gln585Glu) | |
| 18 | g.23543533G= | CA2290167642 | NPC1 | c.2167C= (p.Gln723=) n.2081C= c.1245C= c.2218C= (p.Gln740=) c.1753C= (p.Gln585=) | |
| 18 | g.23543533G>T | CA401770891 | NPC1 | c.2167C>A (p.Gln723Lys) n.2081C>A c.1245C>A c.2218C>A (p.Gln740Lys) c.1753C>A (p.Gln585Lys) | gnomAD v4 |
| 18 | g.23543534C>A | CA401770893 | NPC1 | c.2166G>T (p.Gln722His) n.2080G>T c.1244G>T c.2217G>T (p.Gln739His) c.1752G>T (p.Gln584His) | |
| 18 | g.23543534C>G | CA401770894 | NPC1 | c.2166G>C (p.Gln722His) n.2080G>C c.1244G>C c.2217G>C (p.Gln739His) c.1752G>C (p.Gln584His) | |
| 18 | g.23543534C>T | CA503324626 | NPC1 | c.2166G>A (p.Gln722=) n.2080G>A c.1244G>A c.2217G>A (p.Gln739=) c.1752G>A (p.Gln584=) | ClinVar |
| 18 | g.23543535T>A | CA401770895 | NPC1 | c.2165A>T (p.Gln722Leu) n.2079A>T c.1243A>T c.2216A>T (p.Gln739Leu) c.1751A>T (p.Gln584Leu) | |
| 18 | g.23543535T>C | CA401770896 | NPC1 | c.2165A>G (p.Gln722Arg) n.2079A>G c.1243A>G c.2216A>G (p.Gln739Arg) c.1751A>G (p.Gln584Arg) | |
| 18 | g.23543535T>G | CA401770897 | NPC1 | c.2165A>C (p.Gln722Pro) n.2079A>C c.1243A>C c.2216A>C (p.Gln739Pro) c.1751A>C (p.Gln584Pro) |