{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274292", "communityStandardTitle": [ "NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187028[alleleid]", "alleleId": 187028, "preferredName": "NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189033", "RCV": [ "RCV000169423" ], "variationId": 189033 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.21119806G>A?assembly=hg19", "id": "chr18:g.21119806G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.23539842G>A?assembly=hg38", "id": "chr18:g.23539842G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204641", "rs": 786204641 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-23539842-G-A?dataset=gnomad_r4", "id": "18-23539842-G-A", "variant": "18:23539842 G / A" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 23539842, "referenceAllele": "G", "start": 23539841 } ], "hgvs": [ "NC_000018.10:g.23539842G>A", "CM000680.2:g.23539842G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 21119806, "referenceAllele": "G", "start": 21119805 } ], "hgvs": [ "NC_000018.9:g.21119806G>A", "CM000680.1:g.21119806G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 19373804, "referenceAllele": "G", "start": 19373803 } ], "hgvs": [ "NC_000018.8:g.19373804G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 51776, "referenceAllele": "C", "start": 51775 } ], "hgvs": [ "NG_012795.1:g.51776C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002534" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000269228.10:c.2764C>T" ], "proteinEffect": { "hgvs": "ENSP00000269228.4:p.Gln922Ter", "hgvsWellDefined": "ENSP00000269228.4:p.Gln922_Phe1278delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743101", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269228.10:c.2764C>T" }, "RefSeq": { "hgvs": "NM_000271.5:c.2764C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269228.4:p.Gln922Ter" }, "RefSeq": { "hgvs": "NP_000262.2:p.Gln922Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3319, "referenceAllele": "C", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000269228.9:c.2764C>T" ], "proteinEffect": { "hgvs": "ENSP00000269228.4:p.Gln922Ter", "hgvsWellDefined": "ENSP00000269228.4:p.Gln922_Phe1278delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252154" }, { "coordinates": [ { "allele": "T", "end": 2678, "referenceAllele": "C", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000540608.5:n.2678C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS362492" }, { "coordinates": [ { "allele": "T", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000586718.1:n.555C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389589" }, { "coordinates": [ { "allele": "T", "end": 1842, "referenceAllele": "C", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000591051.1:c.1842C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392618" }, { "coordinates": [ { "allele": "T", "end": 57, "referenceAllele": "C", "start": 56 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "ENST00000591075.1:n.57C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392634" }, { "@id": "http://reg.genome.network/allele/PA274293", "coordinates": [ { "allele": "T", "end": 3038, "referenceAllele": "C", "start": 3037 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "NM_000271.4:c.2764C>T" ], "proteinEffect": { "hgvs": "NP_000262.2:p.Gln922Ter", "hgvsWellDefined": "NP_000262.2:p.Gln922_Phe1278delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006333" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258277.1:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_005258334.1:p.Gln939Ter", "hgvsWellDefined": "XP_005258334.1:p.Gln939_Cys1303delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062018" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258278.3:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_005258335.1:p.Gln939Ter", "hgvsWellDefined": "XP_005258335.1:p.Gln939_Phe1295delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062019" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258279.1:c.2764C>T" ], "proteinEffect": { "hgvs": "XP_005258336.1:p.Gln922Ter", "hgvsWellDefined": "XP_005258336.1:p.Gln922_Cys1286delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062020" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_006722479.2:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_006722542.1:p.Gln939Ter", "hgvsWellDefined": "XP_006722542.1:p.Gln939_Ser1273delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074580" }, { "coordinates": [ { "allele": "T", "end": 3226, "referenceAllele": "C", "start": 3225 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_011526015.1:c.2350C>T" ], "proteinEffect": { "hgvs": "XP_011524317.1:p.Gln784Ter", "hgvsWellDefined": "XP_011524317.1:p.Gln784_Cys1148delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093123" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258278.5:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_005258335.1:p.Gln939Ter", "hgvsWellDefined": "XP_005258335.1:p.Gln939_Phe1295delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534810" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_005258279.2:c.2764C>T" ], "proteinEffect": { "hgvs": "XP_005258336.1:p.Gln922Ter", "hgvsWellDefined": "XP_005258336.1:p.Gln922_Cys1286delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534811" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_006722479.3:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_006722542.1:p.Gln939Ter", "hgvsWellDefined": "XP_006722542.1:p.Gln939_Ser1273delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540548" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025784.1:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_016881273.1:p.Gln939Ter", "hgvsWellDefined": "XP_016881273.1:p.Gln939_Gly1281delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576072" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025785.1:c.2815C>T" ], "proteinEffect": { "hgvs": "XP_016881274.1:p.Gln939Ter", "hgvsWellDefined": "XP_016881274.1:p.Gln939_Phe1273delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576073" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025786.1:c.2764C>T" ], "proteinEffect": { "hgvs": "XP_016881275.1:p.Gln922Ter", "hgvsWellDefined": "XP_016881275.1:p.Gln922_Gly1264delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576074" }, { "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "XM_017025787.1:c.2764C>T" ], "proteinEffect": { "hgvs": "XP_016881276.1:p.Gln922Ter", "hgvsWellDefined": "XP_016881276.1:p.Gln922_Ser1256delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576075" }, { "@id": "http://reg.genome.network/allele/PA274293", "coordinates": [ { "allele": "T", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN007897", "geneNCBI_id": 4864, "geneSymbol": "NPC1", "hgvs": [ "NM_000271.5:c.2764C>T" ], "proteinEffect": { "hgvs": "NP_000262.2:p.Gln922Ter", "hgvsWellDefined": "NP_000262.2:p.Gln922_Phe1278delinsIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662377", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269228.10:c.2764C>T" }, "RefSeq": { "hgvs": "NM_000271.5:c.2764C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269228.4:p.Gln922Ter" }, "RefSeq": { "hgvs": "NP_000262.2:p.Gln922Ter" } } } } ], "type": "nucleotide" }