{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401776489", "communityStandardTitle": [ "NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1782659[alleleid]", "alleleId": 1782659, "preferredName": "NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725132", "RCV": [ "RCV002308191" ], "variationId": 1725132 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.21134904A>T?assembly=hg19", "id": "chr18:g.21134904A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.23554940A>T?assembly=hg38", "id": "chr18:g.23554940A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/779065920", "rs": 779065920 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 23554940, "referenceAllele": "A", "start": 23554939 } ], "hgvs": [ "NC_000018.10:g.23554940A>T", "CM000680.2:g.23554940A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 21134904, "referenceAllele": "A", "start": 21134903 } ], "hgvs": [ "NC_000018.9:g.21134904A>T", "CM000680.1:g.21134904A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 19388902, "referenceAllele": "A", "start": 19388901 } ], "hgvs": [ "NC_000018.8:g.19388902A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 36678, "referenceAllele": "T", "start": 36677 } ], "hgvs": [ "NG_012795.1:g.36678T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002534" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "T", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000269228.10:c.1371T>A" ], "proteinEffect": { "hgvs": "ENSP00000269228.4:p.Tyr457Ter", "hgvsWellDefined": "ENSP00000269228.4:p.Tyr457_Phe1278delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743101", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269228.10:c.1371T>A" }, "RefSeq": { "hgvs": "NM_000271.5:c.1371T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269228.4:p.Tyr457Ter" }, "RefSeq": { "hgvs": "NP_000262.2:p.Tyr457Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1926, "referenceAllele": "T", "start": 1925 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000269228.9:c.1371T>A" ], "proteinEffect": { "hgvs": "ENSP00000269228.4:p.Tyr457Ter", "hgvsWellDefined": "ENSP00000269228.4:p.Tyr457_Phe1278delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252154" }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000540608.5:n.1285T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS362492" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "T", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000590301.1:n.46T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392094" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "T", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000591051.1:c.653T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392618" }, { "@id": "http://reg.genome.network/allele/PA1139681690", "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "T", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "NM_000271.4:c.1371T>A" ], "proteinEffect": { "hgvs": "NP_000262.2:p.Tyr457Ter", "hgvsWellDefined": "NP_000262.2:p.Tyr457_Phe1278delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006333" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258277.1:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_005258334.1:p.Tyr474Ter", "hgvsWellDefined": "XP_005258334.1:p.Tyr474_Cys1303delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062018" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258278.3:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_005258335.1:p.Tyr474Ter", "hgvsWellDefined": "XP_005258335.1:p.Tyr474_Phe1295delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062019" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "T", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258279.1:c.1371T>A" ], "proteinEffect": { "hgvs": "XP_005258336.1:p.Tyr457Ter", "hgvsWellDefined": "XP_005258336.1:p.Tyr457_Cys1286delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062020" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_006722479.2:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_006722542.1:p.Tyr474Ter", "hgvsWellDefined": "XP_006722542.1:p.Tyr474_Ser1273delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074580" }, { "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "T", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_011526015.1:c.957T>A" ], "proteinEffect": { "hgvs": "XP_011524317.1:p.Tyr319Ter", "hgvsWellDefined": "XP_011524317.1:p.Tyr319_Cys1148delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093123" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258278.5:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_005258335.1:p.Tyr474Ter", "hgvsWellDefined": "XP_005258335.1:p.Tyr474_Phe1295delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534810" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "T", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258279.2:c.1371T>A" ], "proteinEffect": { "hgvs": "XP_005258336.1:p.Tyr457Ter", "hgvsWellDefined": "XP_005258336.1:p.Tyr457_Cys1286delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534811" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_006722479.3:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_006722542.1:p.Tyr474Ter", "hgvsWellDefined": "XP_006722542.1:p.Tyr474_Ser1273delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540548" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025784.1:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_016881273.1:p.Tyr474Ter", "hgvsWellDefined": "XP_016881273.1:p.Tyr474_Gly1281delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576072" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025785.1:c.1422T>A" ], "proteinEffect": { "hgvs": "XP_016881274.1:p.Tyr474Ter", "hgvsWellDefined": "XP_016881274.1:p.Tyr474_Phe1273delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576073" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "T", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025786.1:c.1371T>A" ], "proteinEffect": { "hgvs": "XP_016881275.1:p.Tyr457Ter", "hgvsWellDefined": "XP_016881275.1:p.Tyr457_Gly1264delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576074" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "T", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025787.1:c.1371T>A" ], "proteinEffect": { "hgvs": "XP_016881276.1:p.Tyr457Ter", "hgvsWellDefined": "XP_016881276.1:p.Tyr457_Ser1256delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576075" }, { "@id": "http://reg.genome.network/allele/PA1139681690", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "T", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "NM_000271.5:c.1371T>A" ], "proteinEffect": { "hgvs": "NP_000262.2:p.Tyr457Ter", "hgvsWellDefined": "NP_000262.2:p.Tyr457_Phe1278delinsAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662377", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269228.10:c.1371T>A" }, "RefSeq": { "hgvs": "NM_000271.5:c.1371T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269228.4:p.Tyr457Ter" }, "RefSeq": { "hgvs": "NP_000262.2:p.Tyr457Ter" } } } } ], "type": "nucleotide" }