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.23536791T>A | CA401791875 | NPC1 | c.3127A>T (p.Thr1043Ser) c.2205A>T n.760A>T n.470A>T c.3178A>T (p.Thr1060Ser) c.2713A>T (p.Thr905Ser) | |
| 18 | g.23536791T>C | CA10581224 | NPC1 | c.3127A>G (p.Thr1043Ala) c.2205A>G n.760A>G n.470A>G c.3178A>G (p.Thr1060Ala) c.2713A>G (p.Thr905Ala) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23536791T>G | CA401791876 | NPC1 | c.3127A>C (p.Thr1043Pro) c.2205A>C n.760A>C n.470A>C c.3178A>C (p.Thr1060Pro) c.2713A>C (p.Thr905Pro) | |
| 18 | g.23536791T= | CA2290164481 | NPC1 | c.3127A= (p.Thr1043=) c.2205A= n.760A= n.470A= c.3178A= (p.Thr1060=) c.2713A= (p.Thr905=) | |
| 18 | g.23536792del | CA2695227429 | NPC1 | c.3126del (p.His1042GlnfsTer14) c.2204del n.759del n.469del c.3177del (p.His1059GlnfsTer14) c.2712del (p.His904GlnfsTer14) | |
| 18 | g.23536792G>A | CA503322314 | NPC1 | c.3126C>T (p.His1042=) c.2204C>T n.759C>T n.469C>T c.3177C>T (p.His1059=) c.2712C>T (p.His904=) | ClinVar dbSNP |
| 18 | g.23536792G>C | CA401791877 | NPC1 | c.3126C>G (p.His1042Gln) c.2204C>G n.759C>G n.469C>G c.3177C>G (p.His1059Gln) c.2712C>G (p.His904Gln) | |
| 18 | g.23536792G>T | CA401791878 | NPC1 | c.3126C>A (p.His1042Gln) c.2204C>A n.759C>A n.469C>A c.3177C>A (p.His1059Gln) c.2712C>A (p.His904Gln) | |
| 18 | g.23536793T>A | CA401791879 | NPC1 | c.3125A>T (p.His1042Leu) c.2203A>T n.758A>T n.468A>T c.3176A>T (p.His1059Leu) c.2711A>T (p.His904Leu) | |
| 18 | g.23536793T>C | CA401791880 | NPC1 | c.3125A>G (p.His1042Arg) c.2203A>G n.758A>G n.468A>G c.3176A>G (p.His1059Arg) c.2711A>G (p.His904Arg) | |
| 18 | g.23536793T>G | CA401791881 | NPC1 | c.3125A>C (p.His1042Pro) c.2203A>C n.758A>C n.468A>C c.3176A>C (p.His1059Pro) c.2711A>C (p.His904Pro) | gnomAD v4 |
| 18 | g.23536794G>A | CA401791882 | NPC1 | c.3124C>T (p.His1042Tyr) c.2202C>T n.757C>T n.467C>T c.3175C>T (p.His1059Tyr) c.2710C>T (p.His904Tyr) | gnomAD v4 |
| 18 | g.23536794G>C | CA401791884 | NPC1 | c.3124C>G (p.His1042Asp) c.2202C>G n.757C>G n.467C>G c.3175C>G (p.His1059Asp) c.2710C>G (p.His904Asp) | gnomAD v4 |
| 18 | g.23536794G>T | CA401791885 | NPC1 | c.3124C>A (p.His1042Asn) c.2202C>A n.757C>A n.467C>A c.3175C>A (p.His1059Asn) c.2710C>A (p.His904Asn) | |
| 18 | g.23536795G>A | CA503322315 | NPC1 | c.3123C>T (p.Tyr1041=) c.2201C>T n.756C>T n.466C>T c.3174C>T (p.Tyr1058=) c.2709C>T (p.Tyr903=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23536795G>C | CA401791887 | NPC1 | c.3123C>G (p.Tyr1041Ter) c.2201C>G n.756C>G n.466C>G c.3174C>G (p.Tyr1058Ter) c.2709C>G (p.Tyr903Ter) | |
| 18 | g.23536795G= | CA2290164482 | NPC1 | c.3123C= (p.Tyr1041=) c.2201C= n.756C= n.466C= c.3174C= (p.Tyr1058=) c.2709C= (p.Tyr903=) | |
| 18 | g.23536795G>T | CA401791888 | NPC1 | c.3123C>A (p.Tyr1041Ter) c.2201C>A n.756C>A n.466C>A c.3174C>A (p.Tyr1058Ter) c.2709C>A (p.Tyr903Ter) | |
| 18 | g.23536796T>A | CA401791889 | NPC1 | c.3122A>T (p.Tyr1041Phe) c.2200A>T n.755A>T n.465A>T c.3173A>T (p.Tyr1058Phe) c.2708A>T (p.Tyr903Phe) | |
| 18 | g.23536796T>C | CA401791890 | NPC1 | c.3122A>G (p.Tyr1041Cys) c.2200A>G n.755A>G n.465A>G c.3173A>G (p.Tyr1058Cys) c.2708A>G (p.Tyr903Cys) | gnomAD v4 |
| 18 | g.23536796T>G | CA401791891 | NPC1 | c.3122A>C (p.Tyr1041Ser) c.2200A>C n.755A>C n.465A>C c.3173A>C (p.Tyr1058Ser) c.2708A>C (p.Tyr903Ser) | |
| 18 | g.23536796dup | CA2499225060 | NPC1 | c.3122dup (p.Tyr1041Ter) c.2200dup n.755dup n.465dup c.3173dup (p.Tyr1058Ter) c.2708dup (p.Tyr903Ter) | ClinVar dbSNP |
| 18 | g.23536797A>C | CA401791892 | NPC1 | c.3121T>G (p.Tyr1041Asp) c.2199T>G n.754T>G n.464T>G c.3172T>G (p.Tyr1058Asp) c.2707T>G (p.Tyr903Asp) | |
| 18 | g.23536797A>G | CA401791893 | NPC1 | c.3121T>C (p.Tyr1041His) c.2199T>C n.754T>C n.464T>C c.3172T>C (p.Tyr1058His) c.2707T>C (p.Tyr903His) | |
| 18 | g.23536797A>T | CA401791894 | NPC1 | c.3121T>A (p.Tyr1041Asn) c.2199T>A n.754T>A n.464T>A c.3172T>A (p.Tyr1058Asn) c.2707T>A (p.Tyr903Asn) | |
| 18 | g.23536798G>A | CA8912854 | NPC1 | c.3120C>T (p.Thr1040=) c.2198C>T n.753C>T n.463C>T c.3171C>T (p.Thr1057=) c.2706C>T (p.Thr902=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23536798G>C | CA503322316 | NPC1 | c.3120C>G (p.Thr1040=) c.2198C>G n.753C>G n.463C>G c.3171C>G (p.Thr1057=) c.2706C>G (p.Thr902=) | |
| 18 | g.23536798G= | CA2290164483 | NPC1 | c.3120C= (p.Thr1040=) c.2198C= n.753C= n.463C= c.3171C= (p.Thr1057=) c.2706C= (p.Thr902=) | |
| 18 | g.23536798G>T | CA503322317 | NPC1 | c.3120C>A (p.Thr1040=) c.2198C>A n.753C>A n.463C>A c.3171C>A (p.Thr1057=) c.2706C>A (p.Thr902=) | |
| 18 | g.23536799G>A | CA401791895 | NPC1 | c.3119C>T (p.Thr1040Ile) c.2197C>T n.752C>T n.462C>T c.3170C>T (p.Thr1057Ile) c.2705C>T (p.Thr902Ile) | |
| 18 | g.23536799G>C | CA401791896 | NPC1 | c.3119C>G (p.Thr1040Ser) c.2197C>G n.752C>G n.462C>G c.3170C>G (p.Thr1057Ser) c.2705C>G (p.Thr902Ser) | |
| 18 | g.23536799G>T | CA401791897 | NPC1 | c.3119C>A (p.Thr1040Asn) c.2197C>A n.752C>A n.462C>A c.3170C>A (p.Thr1057Asn) c.2705C>A (p.Thr902Asn) | |
| 18 | g.23536800T>A | CA401791898 | NPC1 | c.3118A>T (p.Thr1040Ser) c.2196A>T n.751A>T n.461A>T c.3169A>T (p.Thr1057Ser) c.2704A>T (p.Thr902Ser) | |
| 18 | g.23536800T>C | CA401791899 | NPC1 | c.3118A>G (p.Thr1040Ala) c.2196A>G n.751A>G n.461A>G c.3169A>G (p.Thr1057Ala) c.2704A>G (p.Thr902Ala) | |
| 18 | g.23536800T>G | CA401791900 | NPC1 | c.3118A>C (p.Thr1040Pro) c.2196A>C n.751A>C n.461A>C c.3169A>C (p.Thr1057Pro) c.2704A>C (p.Thr902Pro) | dbSNP |
| 18 | g.23536800T= | CA2290164484 | NPC1 | c.3118A= (p.Thr1040=) c.2196A= n.751A= n.461A= c.3169A= (p.Thr1057=) c.2704A= (p.Thr902=) | |
| 18 | g.23536801C>A | CA401791901 | NPC1 | c.3117G>T (p.Met1039Ile) c.2195G>T n.750G>T n.460G>T c.3168G>T (p.Met1056Ile) c.2703G>T (p.Met901Ile) | |
| 18 | g.23536801C>G | CA401791903 | NPC1 | c.3117G>C (p.Met1039Ile) c.2195G>C n.750G>C n.460G>C c.3168G>C (p.Met1056Ile) c.2703G>C (p.Met901Ile) | |
| 18 | g.23536801C>T | CA401791902 | NPC1 | c.3117G>A (p.Met1039Ile) c.2195G>A n.750G>A n.460G>A c.3168G>A (p.Met1056Ile) c.2703G>A (p.Met901Ile) | |
| 18 | g.23536811_23536812insGAGCCATGAAGTACG | CA2576470977 | NPC1 | c.3117_3118insGCTCCGTACTTCATG (p.Met1039_Thr1040insAlaProTyrPheMet) c.2195_2196insGCTCCGTACTTCATG n.750_751insGCTCCGTACTTCATG n.460_461insGCTCCGTACTTCATG c.3168_3169insGCTCCGTACTTCATG (p.Met1056_Thr1057insAlaProTyrPheMet) c.2703_2704insGCTCCGTACTTCATG (p.Met901_Thr902insAlaProTyrPheMet) | |
| 18 | g.23536802A>C | CA401791904 | NPC1 | c.3116T>G (p.Met1039Arg) c.2194T>G n.749T>G n.459T>G c.3167T>G (p.Met1056Arg) c.2702T>G (p.Met901Arg) | gnomAD v4 |
| 18 | g.23536802A>G | CA401791905 | NPC1 | c.3116T>C (p.Met1039Thr) c.2194T>C n.749T>C n.459T>C c.3167T>C (p.Met1056Thr) c.2702T>C (p.Met901Thr) | |
| 18 | g.23536802A>T | CA401791906 | NPC1 | c.3116T>A (p.Met1039Lys) c.2194T>A n.749T>A n.459T>A c.3167T>A (p.Met1056Lys) c.2702T>A (p.Met901Lys) | |
| 18 | g.23536802_23536822delinsCGACCTG | CA2580095488 | NPC1 | c.3096_3116delinsCAGGTCG (p.Arg1032SerfsTer14) c.2174_2194delinsCAGGTCG n.729_749delinsCAGGTCG n.439_459delinsCAGGTCG c.3147_3167delinsCAGGTCG (p.Arg1049SerfsTer14) c.2682_2702delinsCAGGTCG (p.Arg894SerfsTer14) | ClinVar |
| 18 | g.23536803T>A | CA401791907 | NPC1 | c.3115A>T (p.Met1039Leu) c.2193A>T n.748A>T n.458A>T c.3166A>T (p.Met1056Leu) c.2701A>T (p.Met901Leu) | |
| 18 | g.23536803T>C | CA401791908 | NPC1 | c.3115A>G (p.Met1039Val) c.2193A>G n.748A>G n.458A>G c.3166A>G (p.Met1056Val) c.2701A>G (p.Met901Val) | gnomAD v4 |
| 18 | g.23536803T>G | CA401791909 | NPC1 | c.3115A>C (p.Met1039Leu) c.2193A>C n.748A>C n.458A>C c.3166A>C (p.Met1056Leu) c.2701A>C (p.Met901Leu) | |
| 18 | g.23536804G>A | CA8912855 | NPC1 | c.3114C>T (p.Phe1038=) c.2192C>T n.747C>T n.457C>T c.3165C>T (p.Phe1055=) c.2700C>T (p.Phe900=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23536804G>C | CA401791910 | NPC1 | c.3114C>G (p.Phe1038Leu) c.2192C>G n.747C>G n.457C>G c.3165C>G (p.Phe1055Leu) c.2700C>G (p.Phe900Leu) | |
| 18 | g.23536804G= | CA2290164485 | NPC1 | c.3114C= (p.Phe1038=) c.2192C= n.747C= n.457C= c.3165C= (p.Phe1055=) c.2700C= (p.Phe900=) |