{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382027009", "communityStandardTitle": [ "NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3092228[alleleid]", "alleleId": 3092228, "preferredName": "NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2922681", "RCV": [ "RCV003787847" ], "variationId": 2922681 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.88045713C>A?assembly=hg19", "id": "chr11:g.88045713C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.88312545C>A?assembly=hg38", "id": "chr11:g.88312545C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2496562331", "rs": 2496562331 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 88312545, "referenceAllele": "C", "start": 88312544 } ], "hgvs": [ "NC_000011.10:g.88312545C>A", "CM000673.2:g.88312545C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 88045713, "referenceAllele": "C", "start": 88045712 } ], "hgvs": [ "NC_000011.9:g.88045713C>A", "CM000673.1:g.88045713C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 87685361, "referenceAllele": "C", "start": 87685360 } ], "hgvs": [ "NC_000011.8:g.87685361C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 30229, "referenceAllele": "G", "start": 30228 } ], "hgvs": [ "NG_007952.1:g.30229G>T", "LRG_50:g.30229G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000720" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000227266.10:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000227266.4:p.Glu110Ter", "hgvsWellDefined": "ENSP00000227266.4:p.Glu110_Leu463delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740719", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000227266.10:c.328G>T" }, "RefSeq": { "hgvs": "NM_001814.6:c.328G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000227266.4:p.Glu110Ter" }, "RefSeq": { "hgvs": "NP_001805.4:p.Glu110Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000527018.6:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000432556.2:p.Glu110Ter", "hgvsWellDefined": "ENSP00000432556.2:p.Glu110_Gln325delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyLysCysCysIleSerAspThrIleTyrGluLeuPheThrCysValGlnLeuAlaValValGlyLysGlyLysArgMetMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758997" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "G", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000533897.2:n.376G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759366" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000676612.1:c.*135G>T" ], "proteinEffect": { "hgvs": "ENSP00000504440.1:n.*135G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776290" }, { "coordinates": [ { "allele": "T", "end": 341, "endIntronDirection": "-", "endIntronOffset": 3226, "referenceAllele": "G", "start": 341, "startIntronDirection": "-", "startIntronOffset": 3227 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000677208.1:c.319-3227G>T" ], "proteinEffect": { "hgvs": "ENSP00000504347.1:n.319-3227G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776871" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000677661.1:c.*5G>T" ], "proteinEffect": { "hgvs": "ENSP00000503323.1:n.*5G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777319" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000677802.1:c.*5G>T" ], "proteinEffect": { "hgvs": "ENSP00000504115.1:n.*5G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS777454" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678395.1:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000503123.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000503123.1:p.Glu110_Phe143delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778042" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678464.1:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000503046.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000503046.1:p.Glu110_Leu452delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778109" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678506.1:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000503580.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000503580.1:p.Glu110_Leu450delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778148" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "G", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678520.1:c.*135G>T" ], "proteinEffect": { "hgvs": "ENSP00000503361.1:n.*135G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778162" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678554.1:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000504541.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000504541.1:p.Glu110_Arg302delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGluAsnLysSerGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778195" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000678915.1:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000504805.1:p.Glu110Ter", "hgvsWellDefined": "ENSP00000504805.1:p.Glu110_Leu419delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778552" }, { "coordinates": [ { "allele": "T", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000679224.1:c.-36G>T" ], "proteinEffect": { "hgvs": "ENSP00000504475.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778858" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000227266.9:c.328G>T" ], "proteinEffect": { "hgvs": "ENSP00000227266.4:p.Glu110Ter", "hgvsWellDefined": "ENSP00000227266.4:p.Glu110_Leu463delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248582" }, { "coordinates": [ { "allele": "T", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000527018.5:c.198G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352792" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "ENST00000533865.5:n.350G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358572" }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "G", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.4:c.328G>T", "LRG_50t1:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Glu110Ter", "hgvsWellDefined": "NP_001805.3:p.Glu110_Leu463delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027144" }, { "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.5:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001805.3:p.Glu110Ter", "hgvsWellDefined": "NP_001805.3:p.Glu110_Leu463delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnThrAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524917" }, { "@id": "http://reg.genome.network/allele/PA2741887539", "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN002528", "geneNCBI_id": 1075, "geneSymbol": "CTSC", "hgvs": [ "NM_001814.6:c.328G>T" ], "proteinEffect": { "hgvs": "NP_001805.4:p.Glu110Ter", "hgvsWellDefined": "NP_001805.4:p.Glu110_Leu463delinsGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000227266.10:c.328G>T" }, "RefSeq": { "hgvs": "NM_001814.6:c.328G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000227266.4:p.Glu110Ter" }, "RefSeq": { "hgvs": "NP_001805.4:p.Glu110Ter" } } } } ], "type": "nucleotide" }