{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379099505", "communityStandardTitle": [ "NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5578358", "active": true, "id": "COSM5578358" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2859464[alleleid]", "alleleId": 2859464, "preferredName": "NM_001909.5(CTSD):c.190G>T (p.Glu64Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2701881", "RCV": [ "RCV003533987" ], "variationId": 2701881 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1782577C>A?assembly=hg19", "id": "chr11:g.1782577C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1761347C>A?assembly=hg38", "id": "chr11:g.1761347C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/539823013", "rs": 539823013 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1761347, "referenceAllele": "C", "start": 1761346 } ], "hgvs": [ "NC_000011.10:g.1761347C>A", "CM000673.2:g.1761347C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1782577, "referenceAllele": "C", "start": 1782576 } ], "hgvs": [ "NC_000011.9:g.1782577C>A", "CM000673.1:g.1782577C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1739153, "referenceAllele": "C", "start": 1739152 } ], "hgvs": [ "NC_000011.8:g.1739153C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 7646, "referenceAllele": "G", "start": 7645 } ], "hgvs": [ "NG_008655.1:g.7646G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001148" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.7:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Glu64Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Glu64_Leu412delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740984", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.190G>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.190G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Glu64Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Glu64Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.4:c.85G>T" ], "proteinEffect": { "hgvs": "ENSP00000356164.4:p.Glu29Ter", "hgvsWellDefined": "ENSP00000356164.4:p.Glu29_Leu377delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749955" }, { "coordinates": [ { "allele": "T", "end": 176, "referenceAllele": "G", "start": 175 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000429746.2:c.85G>T" ], "proteinEffect": { "hgvs": "ENSP00000402586.2:p.Glu29Ter", "hgvsWellDefined": "ENSP00000402586.2:p.Glu29_Leu377delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755290" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.6:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Glu64_Gln276delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755471" }, { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.6:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.2:p.Glu64Ter", "hgvsWellDefined": "ENSP00000415036.2:p.Glu64_Leu451delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnSerProGluGlyArgArgValGlnProSerGlnGlyArgGlySerGlnGlyGlyAlaLeuGlyProGlnGlyThrLeuGlnSerArgGlnGlyLeuHisAlaLeuThrProArgArgValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755690" }, { "coordinates": [ { "allele": "T", "end": 263, "referenceAllele": "G", "start": 262 } ], "hgvs": [ "ENST00000636397.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000489910.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000489910.1:p.Glu64_Ser582delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysProArgLeuGluTrpProArgProAspValLeuHisGlnCysSerCysProAlaGlyTrpGlyArgArgGlnGlyMetGlnGlyGluLysArgLeuGlyArgGlyTrpLeuGlyGlyArgThrProGlyGlnLeuArgLeuCysSerIleLeuGluLeuGluProHisProAlaArgHisArgAsnCysGlyArgArgSerProProAlaProAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763082" }, { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636571.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000490770.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000490770.1:p.Glu64_Leu405delinsGlyProIleProGluAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763216" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "G", "start": 284 } ], "hgvs": [ "ENST00000636615.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000490014.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000490014.1:p.Glu64_Tyr557delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysValArgAspLysLysLeuLeuAsnAspLeuAsnGlyAlaValGluAspAlaLysThrAlaArgLeuPheAsnIleThrSerSerAlaLeuAlaAlaSerCysIleIleLeuValPheIlePheLeuArgTyrProLeuThrAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763252" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "G", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636843.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000490897.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000490897.1:p.Glu64_Leu410delinsGlyProIleProGluValLeuLysAsnTyrMetAspTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763422" }, { "coordinates": [ { "allele": "T", "end": 2618, "referenceAllele": "G", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637381.2:n.2618G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763824" }, { "coordinates": [ { "allele": "T", "end": 272, "referenceAllele": "G", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637387.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000490598.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000490598.1:p.Glu64_Leu405delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763827" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637815.2:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000490344.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000490344.1:p.Glu64_Leu406delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764130" }, { "coordinates": [ { "allele": "T", "end": 227, "referenceAllele": "G", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637915.1:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000490471.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000490471.1:p.Glu64_Leu409delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764206" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000678991.1:c.*51G>T" ], "proteinEffect": { "hgvs": "ENSP00000503019.1:n.*51G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778626" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.6:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Glu64Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Glu64_Leu412delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248971" }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.3:c.85G>T" ], "proteinEffect": { "hgvs": "ENSP00000356164.3:p.Glu29Ter", "hgvsWellDefined": "ENSP00000356164.3:p.Glu29Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266257" }, { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.5:c.190G>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Glu64Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Glu64_Gln276delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292643" }, { "coordinates": [ { "allele": "T", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.5:c.145G>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.1:p.Glu49Ter", "hgvsWellDefined": "ENSP00000415036.1:p.Glu49_Ala299del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294817" }, { "@id": "http://reg.genome.network/allele/PA2741890662", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.4:c.190G>T" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Glu64Ter", "hgvsWellDefined": "NP_001900.1:p.Glu64_Leu412delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027236" }, { "@id": "http://reg.genome.network/allele/PA2741890662", "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.5:c.190G>T" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Glu64Ter", "hgvsWellDefined": "NP_001900.1:p.Glu64_Leu412delinsGlyProIleProGluValLeuLysAsnTyrMetAspAlaGlnTyrTyrGlyGluIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665240", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.190G>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.190G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Glu64Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Glu64Ter" } } } } ], "type": "nucleotide" }