{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379098566", "communityStandardTitle": [ "NM_001909.5(CTSD):c.244G>T (p.Glu82Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1487085[alleleid]", "alleleId": 1487085, "preferredName": "NM_001909.5(CTSD):c.244G>T (p.Glu82Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1407027", "RCV": [ "RCV001918223" ], "variationId": 1407027 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1780854C>A?assembly=hg19", "id": "chr11:g.1780854C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1759624C>A?assembly=hg38", "id": "chr11:g.1759624C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1845850847", "rs": 1845850847 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-1759624-C-A?dataset=gnomad_r3", "id": "11-1759624-C-A", "variant": "11:1759624 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-1759624-C-A?dataset=gnomad_r4", "id": "11-1759624-C-A", "variant": "11:1759624 C / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1759624, "referenceAllele": "C", "start": 1759623 } ], "hgvs": [ "NC_000011.10:g.1759624C>A", "CM000673.2:g.1759624C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1780854, "referenceAllele": "C", "start": 1780853 } ], "hgvs": [ "NC_000011.9:g.1780854C>A", "CM000673.1:g.1780854C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1737430, "referenceAllele": "C", "start": 1737429 } ], "hgvs": [ "NC_000011.8:g.1737430C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 9369, "referenceAllele": "G", "start": 9368 } ], "hgvs": [ "NG_008655.1:g.9369G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001148" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.7:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Glu82Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Glu82_Leu412delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740984", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.244G>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.244G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Glu82Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Glu82Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.4:c.139G>T" ], "proteinEffect": { "hgvs": "ENSP00000356164.4:p.Glu47Ter", "hgvsWellDefined": "ENSP00000356164.4:p.Glu47_Leu377delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749955" }, { "coordinates": [ { "allele": "T", "end": 230, "referenceAllele": "G", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000429746.2:c.139G>T" ], "proteinEffect": { "hgvs": "ENSP00000402586.2:p.Glu47Ter", "hgvsWellDefined": "ENSP00000402586.2:p.Glu47_Leu377delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755290" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.6:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Glu82_Gln276delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755471" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.6:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.2:p.Glu82Ter", "hgvsWellDefined": "ENSP00000415036.2:p.Glu82_Leu451delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnSerProGluGlyArgArgValGlnProSerGlnGlyArgGlySerGlnGlyGlyAlaLeuGlyProGlnGlyThrLeuGlnSerArgGlnGlyLeuHisAlaLeuThrProArgArgValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755690" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "G", "start": 316 } ], "hgvs": [ "ENST00000636397.1:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000489910.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000489910.1:p.Glu82_Ser582delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysProArgLeuGluTrpProArgProAspValLeuHisGlnCysSerCysProAlaGlyTrpGlyArgArgGlnGlyMetGlnGlyGluLysArgLeuGlyArgGlyTrpLeuGlyGlyArgThrProGlyGlnLeuArgLeuCysSerIleLeuGluLeuGluProHisProAlaArgHisArgAsnCysGlyArgArgSerProProAlaProAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763082" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636571.1:c.223G>T" ], "proteinEffect": { "hgvs": "ENSP00000490770.1:p.Glu75Ter", "hgvsWellDefined": "ENSP00000490770.1:p.Glu75_Leu405delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763216" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "G", "start": 338 } ], "hgvs": [ "ENST00000636615.1:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000490014.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000490014.1:p.Glu82_Tyr557delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysValArgAspLysLysLeuLeuAsnAspLeuAsnGlyAlaValGluAspAlaLysThrAlaArgLeuPheAsnIleThrSerSerAlaLeuAlaAlaSerCysIleIleLeuValPheIlePheLeuArgTyrProLeuThrAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763252" }, { "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636843.1:c.238G>T" ], "proteinEffect": { "hgvs": "ENSP00000490897.1:p.Glu80Ter", "hgvsWellDefined": "ENSP00000490897.1:p.Glu80_Leu410delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763422" }, { "coordinates": [ { "allele": "T", "end": 2672, "referenceAllele": "G", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637381.2:n.2672G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763824" }, { "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637387.1:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000490598.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000490598.1:p.Glu82_Leu405delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763827" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637815.2:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000490344.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000490344.1:p.Glu82_Leu406delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764130" }, { "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637915.1:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000490471.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000490471.1:p.Glu82_Leu409delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764206" }, { "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000677300.1:n.639G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776963" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "G", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000678991.1:c.*105G>T" ], "proteinEffect": { "hgvs": "ENSP00000503019.1:n.*105G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778626" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.6:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Glu82Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Glu82_Leu412delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248971" }, { "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.3:c.139G>T" ], "proteinEffect": { "hgvs": "ENSP00000356164.3:p.Glu47Ter", "hgvsWellDefined": "ENSP00000356164.3:p.Glu47Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266257" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "G", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.5:c.244G>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Glu82Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Glu82_Gln276delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292643" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.5:c.199G>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.1:p.Glu67Ter", "hgvsWellDefined": "ENSP00000415036.1:p.Glu67_Ala299del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294817" }, { "@id": "http://reg.genome.network/allele/PA2573223807", "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.4:c.244G>T" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Glu82Ter", "hgvsWellDefined": "NP_001900.1:p.Glu82_Leu412delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027236" }, { "@id": "http://reg.genome.network/allele/PA2573223807", "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.5:c.244G>T" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Glu82Ter", "hgvsWellDefined": "NP_001900.1:p.Glu82_Leu412delinsIleGlyIleGlyThrProProGlnCysPheThrValValPheAspThrGlySerSerAsnLeuTrpValProSerIleHisCysLysLeuLeuAspIleAlaCysTrpIleHisHisLysTyrAsnSerAspLysSerSerThrTyrValLysAsnGlyThrSerPheAspIleHisTyrGlySerGlySerLeuSerGlyTyrLeuSerGlnAspThrValSerValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665240", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.244G>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.244G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Glu82Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Glu82Ter" } } } } ], "type": "nucleotide" }