{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340566", "communityStandardTitle": [ "NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21416[alleleid]", "alleleId": 21416, "preferredName": "NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6377", "RCV": [ "RCV000006749" ], "variationId": 6377 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.77437092G>A?assembly=hg19", "id": "chr5:g.77437092G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.78141268G>A?assembly=hg38", "id": "chr5:g.78141268G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908906", "rs": 121908906 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-78141268-G-A?dataset=gnomad_r4", "id": "5-78141268-G-A", "variant": "5:78141268 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 78141268, "referenceAllele": "G", "start": 78141267 } ], "hgvs": [ "NC_000005.10:g.78141268G>A", "CM000667.2:g.78141268G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 77437092, "referenceAllele": "G", "start": 77437091 } ], "hgvs": [ "NC_000005.9:g.77437092G>A", "CM000667.1:g.77437092G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 77472848, "referenceAllele": "G", "start": 77472847 } ], "hgvs": [ "NC_000005.8:g.77472848G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 158437, "referenceAllele": "C", "start": 158436 } ], "hgvs": [ "NG_007268.1:g.158437C>T", "LRG_170:g.158437C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000516" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1663, "referenceAllele": "C", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000517561.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511839.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511839.1:p.Arg509_Gly661delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLeuValSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905573" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000517940.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511881.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511881.1:p.Arg509_Phe863delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905578" }, { "coordinates": [ { "allele": "T", "end": 1692, "referenceAllele": "C", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000519295.6:c.1378C>T" ], "proteinEffect": { "hgvs": "ENSP00000430597.1:p.Arg460Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS905590" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "C", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000519888.6:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511880.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511880.1:p.Arg509_Lys871delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerGluArgLysAlaLeuHisLeuLysLeuGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905599" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "C", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695447.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511917.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511917.1:p.Arg509_Trp860delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspCysGlnTyrSerCysIleCysThrAsnGluAsnSerArgAlaAlaSerSerAsnGluTrpLysArgThrSerCysProLeuPheLeuSerLysThrAlaLeuHisPheTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906968" }, { "coordinates": [ { "allele": "T", "end": 1212, "endIntronDirection": "-", "endIntronOffset": 25033, "referenceAllele": "C", "start": 1212, "startIntronDirection": "-", "startIntronOffset": 25034 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695450.1:c.1168-25034C>T" ], "proteinEffect": { "hgvs": "ENSP00000511919.1:n.1168-25034C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906971" }, { "coordinates": [ { "allele": "T", "end": 1917, "referenceAllele": "C", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695451.1:c.*1291C>T" ], "proteinEffect": { "hgvs": "ENSP00000511920.1:n.*1291C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906972" }, { "coordinates": [ { "allele": "T", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695453.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511921.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511921.1:p.Arg509_Leu1034delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906974" }, { "coordinates": [ { "allele": "T", "end": 1702, "referenceAllele": "C", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695454.1:c.1519C>T" ], "proteinEffect": { "hgvs": "ENSP00000511922.1:p.Arg507Ter", "hgvsWellDefined": "ENSP00000511922.1:p.Arg507_Leu1051delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906975" }, { "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695455.1:c.1378C>T" ], "proteinEffect": { "hgvs": "ENSP00000511923.1:p.Arg460Ter", "hgvsWellDefined": "ENSP00000511923.1:p.Arg460_Leu1004delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906976" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695488.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511959.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511959.1:p.Arg509_Glu1016delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnAlaCysLeuSerAlaLeuHisLeuLeuSerLysProArgSerAlaAsnArgAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907007" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695505.1:n.1683C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS907021" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695507.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511970.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511970.1:p.Arg509_Ile862delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerGlyLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907023" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695510.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511973.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511973.1:p.Arg509_His1008delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyLeuGlnLeuLysLeuCysThrValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907026" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695511.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511974.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511974.1:p.Arg509_Leu1053delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907027" }, { "coordinates": [ { "allele": "T", "end": 1683, "referenceAllele": "C", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695512.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511975.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511975.1:p.Arg509_Gly1034delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907028" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695513.1:c.1390C>T" ], "proteinEffect": { "hgvs": "ENSP00000511976.1:p.Arg464Ter", "hgvsWellDefined": "ENSP00000511976.1:p.Arg464_Gly1049delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907029" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "C", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695514.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511977.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511977.1:p.Arg509_Asp823delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907030" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "C", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000695515.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000511978.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000511978.1:p.Arg509_Gly1055delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyLeuSerPhePheSerSerArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907031" }, { "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000255194.11:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000255194.7:p.Arg509Ter", "hgvsWellDefined": "ENSP00000255194.7:p.Arg509_Gly1094delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255194.11:c.1525C>T" }, "RefSeq": { "hgvs": "NM_003664.5:c.1525C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255194.7:p.Arg509Ter" }, "RefSeq": { "hgvs": "NP_003655.3:p.Arg509Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000255194.10:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000255194.6:p.Arg509Ter", "hgvsWellDefined": "ENSP00000255194.6:p.Arg509_Gly1094delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250081" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "ENST00000519295.5:c.1378C>T" ], "proteinEffect": { "hgvs": "ENSP00000430597.1:p.Arg460Ter", "hgvsWellDefined": "ENSP00000430597.1:p.Arg460_Gly1045delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346563" }, { "@id": "http://reg.genome.network/allele/PA2826538467", "coordinates": [ { "allele": "T", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_001271769.1:c.1378C>T" ], "proteinEffect": { "hgvs": "NP_001258698.1:p.Arg460Ter", "hgvsWellDefined": "NP_001258698.1:p.Arg460_Gly1045delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020629" }, { "@id": "http://reg.genome.network/allele/PA340568", "coordinates": [ { "allele": "T", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_003664.4:c.1525C>T", "LRG_170t1:c.1525C>T" ], "proteinEffect": { "hgvs": "NP_003655.3:p.Arg509Ter", "hgvsWellDefined": "NP_003655.3:p.Arg509_Gly1094delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028893" }, { "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248618.2:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005248675.1:p.Arg509Ter", "hgvsWellDefined": "XP_005248675.1:p.Arg509_Leu1053delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058513" }, { "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248619.3:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005248676.1:p.Arg509Ter", "hgvsWellDefined": "XP_005248676.1:p.Arg509_Lys871delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerGluArgLysAlaLeuHisLeuLysLeuGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058514" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248618.4:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005248675.1:p.Arg509Ter", "hgvsWellDefined": "XP_005248675.1:p.Arg509_Leu1053delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533113" }, { "coordinates": [ { "allele": "T", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_005248619.5:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005248676.1:p.Arg509Ter", "hgvsWellDefined": "XP_005248676.1:p.Arg509_Lys871delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerGluArgLysAlaLeuHisLeuLysLeuGlyLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533114" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "XM_017010001.1:c.1378C>T" ], "proteinEffect": { "hgvs": "XP_016865490.1:p.Arg460Ter", "hgvsWellDefined": "XP_016865490.1:p.Arg460_Leu1004delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgTyrGluGluLeuAsnPheGluAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564165" }, { "@id": "http://reg.genome.network/allele/PA2826538467", "coordinates": [ { "allele": "T", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_001271769.2:c.1378C>T" ], "proteinEffect": { "hgvs": "NP_001258698.1:p.Arg460Ter", "hgvsWellDefined": "NP_001258698.1:p.Arg460_Gly1045delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681191" }, { "@id": "http://reg.genome.network/allele/PA340568", "coordinates": [ { "allele": "T", "end": 1644, "referenceAllele": "C", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN000566", "geneNCBI_id": 8546, "geneSymbol": "AP3B1", "hgvs": [ "NM_003664.5:c.1525C>T" ], "proteinEffect": { "hgvs": "NP_003655.3:p.Arg509Ter", "hgvsWellDefined": "NP_003655.3:p.Arg509_Gly1094delinsValProLysIleAlaProAspValLeuArgLysMetAlaLysSerPheThrSerGluAspAspLeuValLysLeuGlnIleLeuAsnLeuGlyAlaLysLeuTyrLeuThrAsnSerLysGlnThrLysLeuLeuThrGlnTyrIleLeuAsnLeuGlyLysTyrAspGlnAsnTyrAspIleArgAspArgThrArgPheIleArgGlnLeuIleValProAsnValLysSerGlyAlaLeuSerLysTyrAlaLysLysIlePheLeuAlaGlnLysProAlaProLeuLeuGluSerProPheLysAspArgAspHisPheGlnLeuGlyThrLeuSerHisThrLeuAsnIleLysAlaThrGlyTyrLeuGluLeuSerAsnTrpProGluValAlaProAspProSerValArgAsnValGluValIleGluLeuAlaLysGluTrpThrProAlaGlyLysAlaLysGlnGluAsnSerAlaLysLysPheTyrSerGluSerGluGluGluGluAspSerSerAspSerSerSerAspSerGluSerGluSerGlySerGluSerGlyGluGlnGlyGluSerGlyGluGluGlyAspSerAsnGluAspSerSerGluAspSerSerSerGluGlnAspSerGluSerGlyArgGluSerGlyLeuGluAsnLysArgThrAlaLysArgAsnSerLysAlaLysGlyLysSerAspSerGluAspGlyGluLysGluAsnGluLysSerLysThrSerAspSerSerAsnAspGluSerSerSerIleGluAspSerSerSerAspSerGluSerGluSerGluProGluSerGluSerGluSerArgArgValThrLysGluLysGluLysLysThrLysGlnAspArgThrProLeuThrLysAspValSerLeuLeuAspLeuAspAspPheAsnProValSerThrProValAlaLeuProThrProAlaLeuSerProSerLeuMetAlaAspLeuGluGlyLeuHisLeuSerThrSerSerSerValIleSerValSerThrProAlaPheValProThrLysThrHisValLeuLeuHisArgMetSerGlyLysGlyLeuAlaAlaHisTyrPhePheProArgGlnProCysIlePheGlyAspLysMetValSerIleGlnIleThrLeuAsnAsnThrThrAspArgLysIleGluAsnIleHisIleGlyGluLysLysLeuProIleGlyMetLysMetHisValPheAsnProIleAspSerLeuGluProGluGlySerIleThrValSerMetGlyIleAspPheCysAspSerThrGlnThrAlaSerPheGlnLeuCysThrLysAspAspCysPheAsnValAsnIleGlnProProValGlyGluLeuLeuLeuProValAlaMetSerGluLysAspPheLysLysGluGlnGlyValLeuThrGlyMetAsnGluThrSerAlaValIleIleAlaAlaProGlnAsnPheThrProSerValIlePheGlnLysValValAsnValAlaAsnValGlyAlaValProSerGlyGlnAspAsnIleHisArgPheAlaAlaLysThrValHisSerGlySerLeuMetLeuValThrValGluLeuLysGluGlySerThrAlaGlnLeuIleIleAsnThrGluLysThrValIleGlySerValLeuLeuArgGluLeuLysProValLeuSerGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255194.11:c.1525C>T" }, "RefSeq": { "hgvs": "NM_003664.5:c.1525C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255194.7:p.Arg509Ter" }, "RefSeq": { "hgvs": "NP_003655.3:p.Arg509Ter" } } } } ], "type": "nucleotide" }