{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379097164", "communityStandardTitle": [ "NM_001909.5(CTSD):c.470C>A (p.Ser157Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1780200G>T?assembly=hg19", "id": "chr11:g.1780200G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1758970G>T?assembly=hg38", "id": "chr11:g.1758970G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587779409", "rs": 587779409 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-1758970-G-T?dataset=gnomad_r4", "id": "11-1758970-G-T", "variant": "11:1758970 G / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 1758970, "referenceAllele": "G", "start": 1758969 } ], "hgvs": [ "NC_000011.10:g.1758970G>T", "CM000673.2:g.1758970G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 1780200, "referenceAllele": "G", "start": 1780199 } ], "hgvs": [ "NC_000011.9:g.1780200G>T", "CM000673.1:g.1780200G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 1736776, "referenceAllele": "G", "start": 1736775 } ], "hgvs": [ "NC_000011.8:g.1736776G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 10023, "referenceAllele": "C", "start": 10022 } ], "hgvs": [ "NG_008655.1:g.10023C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001148" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.7:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Ser157Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Ser157_Leu412delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740984", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.470C>A" }, "RefSeq": { "hgvs": "NM_001909.5:c.470C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Ser157Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Ser157Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.4:c.365C>A" ], "proteinEffect": { "hgvs": "ENSP00000356164.4:p.Ser122Ter", "hgvsWellDefined": "ENSP00000356164.4:p.Ser122_Leu377delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749955" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000429746.2:c.365C>A" ], "proteinEffect": { "hgvs": "ENSP00000402586.2:p.Ser122Ter", "hgvsWellDefined": "ENSP00000402586.2:p.Ser122_Leu377delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755290" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.6:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Ser157_Gln276delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755471" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.6:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000415036.2:p.Ser157Ter", "hgvsWellDefined": "ENSP00000415036.2:p.Ser157_Leu451delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnSerProGluGlyArgArgValGlnProSerGlnGlyArgGlySerGlnGlyGlyAlaLeuGlyProGlnGlyThrLeuGlnSerArgGlnGlyLeuHisAlaLeuThrProArgArgValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755690" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "hgvs": [ "ENST00000636397.1:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000489910.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000489910.1:p.Ser157_Ser582delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysProArgLeuGluTrpProArgProAspValLeuHisGlnCysSerCysProAlaGlyTrpGlyArgArgGlnGlyMetGlnGlyGluLysArgLeuGlyArgGlyTrpLeuGlyGlyArgThrProGlyGlnLeuArgLeuCysSerIleLeuGluLeuGluProHisProAlaArgHisArgAsnCysGlyArgArgSerProProAlaProAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763082" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636571.1:c.449C>A" ], "proteinEffect": { "hgvs": "ENSP00000490770.1:p.Ser150Ter", "hgvsWellDefined": "ENSP00000490770.1:p.Ser150_Leu405delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763216" }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "C", "start": 564 } ], "hgvs": [ "ENST00000636615.1:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000490014.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000490014.1:p.Ser157_Tyr557delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysValArgAspLysLysLeuLeuAsnAspLeuAsnGlyAlaValGluAspAlaLysThrAlaArgLeuPheAsnIleThrSerSerAlaLeuAlaAlaSerCysIleIleLeuValPheIlePheLeuArgTyrProLeuThrAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763252" }, { "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636843.1:c.464C>A" ], "proteinEffect": { "hgvs": "ENSP00000490897.1:p.Ser155Ter", "hgvsWellDefined": "ENSP00000490897.1:p.Ser155_Leu410delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763422" }, { "coordinates": [ { "allele": "A", "end": 2898, "referenceAllele": "C", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637381.2:n.2898C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763824" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637387.1:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000490598.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000490598.1:p.Ser157_Leu405delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763827" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637815.2:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000490344.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000490344.1:p.Ser157_Leu406delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764130" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637915.1:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000490471.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000490471.1:p.Ser157_Leu409delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764206" }, { "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000677300.1:n.865C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776963" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000678991.1:c.*331C>A" ], "proteinEffect": { "hgvs": "ENSP00000503019.1:n.*331C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778626" }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.6:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Ser157Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Ser157_Leu412delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248971" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.3:c.365C>A" ], "proteinEffect": { "hgvs": "ENSP00000356164.3:p.Ser122Ter", "hgvsWellDefined": "ENSP00000356164.3:p.Ser122Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS266257" }, { "coordinates": [ { "allele": "A", "end": 82, "referenceAllele": "C", "start": 81 } ], "hgvs": [ "ENST00000427721.2:c.-131C>A" ], "proteinEffect": { "hgvs": "ENSP00000415840.2:n.-131C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS289837" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.5:c.470C>A" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:p.Ser157Ter", "hgvsWellDefined": "ENSP00000404902.1:p.Ser157_Gln276delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292643" }, { "coordinates": [ { "allele": "A", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.5:c.425C>A" ], "proteinEffect": { "hgvs": "ENSP00000415036.1:p.Ser142Ter", "hgvsWellDefined": "ENSP00000415036.1:p.Ser142_Ala299del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294817" }, { "@id": "http://reg.genome.network/allele/PA3077899294", "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.4:c.470C>A" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Ser157Ter", "hgvsWellDefined": "NP_001900.1:p.Ser157_Leu412delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027236" }, { "@id": "http://reg.genome.network/allele/PA3077899294", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.5:c.470C>A" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Ser157Ter", "hgvsWellDefined": "NP_001900.1:p.Ser157_Leu412delinsValProCysGlnSerAlaSerSerAlaSerAlaLeuGlyGlyValLysValGluArgGlnValPheGlyGluAlaThrLysGlnProGlyIleThrPheIleAlaAlaLysPheAspGlyIleLeuGlyMetAlaTyrProArgIleSerValAsnAsnValLeuProValPheAspAsnLeuMetGlnGlnLysLeuValAspGlnAsnIlePheSerPheTyrLeuSerArgAspProAspAlaGlnProGlyGlyGluLeuMetLeuGlyGlyThrAspSerLysTyrTyrLysGlySerLeuSerTyrLeuAsnValThrArgLysAlaTyrTrpGlnValHisLeuAspGlnValGluValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665240", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.470C>A" }, "RefSeq": { "hgvs": "NM_001909.5:c.470C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Ser157Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Ser157Ter" } } } } ], "type": "nucleotide" }