{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393859958", "communityStandardTitle": [ "NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4429397", "active": true, "id": "COSM4429397" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361965[alleleid]", "alleleId": 361965, "preferredName": "NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375326", "RCV": [ "RCV002521490" ], "variationId": 375326 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.91557072G>A?assembly=hg19", "id": "chr15:g.91557072G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.91013842G>A?assembly=hg38", "id": "chr15:g.91013842G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519063", "rs": 1057519063 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-91013842-G-A?dataset=gnomad_r4", "id": "15-91013842-G-A", "variant": "15:91013842 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 91013842, "referenceAllele": "G", "start": 91013841 } ], "hgvs": [ "NC_000015.10:g.91013842G>A", "CM000677.2:g.91013842G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 91557072, "referenceAllele": "G", "start": 91557071 } ], "hgvs": [ "NC_000015.9:g.91557072G>A", "CM000677.1:g.91557072G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 89358076, "referenceAllele": "G", "start": 89358075 } ], "hgvs": [ "NC_000015.8:g.89358076G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 13762, "referenceAllele": "C", "start": 13761 } ], "hgvs": [ "NG_012162.1:g.13762C>T", "LRG_884:g.13762C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002245" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000333371.8:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000327650.4:p.Arg107Ter", "hgvsWellDefined": "ENSP00000327650.4:p.Arg107_Ala617delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000333371.8:c.319C>T" }, "RefSeq": { "hgvs": "NM_018668.5:c.319C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327650.4:p.Arg107Ter" }, "RefSeq": { "hgvs": "NP_061138.3:p.Arg107Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 636, "referenceAllele": "C", "start": 635 } ], "hgvs": [ "ENST00000643536.1:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000494429.1:p.Arg107Ter", "hgvsWellDefined": "ENSP00000494429.1:p.Arg107_Pro599delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysValArgCysTrpArgArgSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767334" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "hgvs": [ "ENST00000647331.1:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000493953.1:p.Arg107Ter", "hgvsWellDefined": "ENSP00000493953.1:p.Arg107_Pro599delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysValArgCysTrpArgArgSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769354" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000333371.7:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000327650.3:p.Arg107Ter", "hgvsWellDefined": "ENSP00000327650.3:p.Arg107_Ala617delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259705" }, { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000535906.1:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000444053.1:p.Arg80Ter", "hgvsWellDefined": "ENSP00000444053.1:p.Arg80_Ala590delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359986" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000554264.5:n.242C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370498" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000556096.6:n.713C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371954" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000557358.1:n.523C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS372959" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "C", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "ENST00000574755.5:c.*14C>T" ], "proteinEffect": { "hgvs": "ENSP00000460413.1:n.*14C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS383814" }, { "@id": "http://reg.genome.network/allele/PA916017204", "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "NM_001289148.1:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001276077.1:p.Arg80Ter", "hgvsWellDefined": "NP_001276077.1:p.Arg80_Ala590delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023834" }, { "@id": "http://reg.genome.network/allele/PA2826762195", "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "NM_001289149.1:c.46C>T" ], "proteinEffect": { "hgvs": "NP_001276078.1:p.Arg16Ter", "hgvsWellDefined": "NP_001276078.1:p.Arg16_Ala526delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023835" }, { "@id": "http://reg.genome.network/allele/PA645416434", "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "NM_018668.4:c.319C>T", "LRG_884t1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_061138.3:p.Arg107Ter", "hgvsWellDefined": "NP_061138.3:p.Arg107_Ala617delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035843" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XM_005254884.2:c.319C>T" ], "proteinEffect": { "hgvs": "XP_005254941.1:p.Arg107Ter", "hgvsWellDefined": "XP_005254941.1:p.Arg107_Ala591delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060776" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XM_005254887.1:c.46C>T" ], "proteinEffect": { "hgvs": "XP_005254944.1:p.Arg16Ter", "hgvsWellDefined": "XP_005254944.1:p.Arg16_Ala526delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060777" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XM_005254888.2:c.319C>T" ], "proteinEffect": { "hgvs": "XP_005254945.1:p.Arg107Ter", "hgvsWellDefined": "XP_005254945.1:p.Arg107_Pro386delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaAspThrGlyTyrValGluCysTrpPheLeuLeuGluValLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060778" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XM_011521448.1:c.46C>T" ], "proteinEffect": { "hgvs": "XP_011519750.1:p.Arg16Ter", "hgvsWellDefined": "XP_011519750.1:p.Arg16_Ala526delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088609" }, { "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XM_017022075.2:c.-43C>T" ], "proteinEffect": { "hgvs": "XP_016877564.1:n.-43C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573124" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XM_017022076.1:c.-43C>T" ], "proteinEffect": { "hgvs": "XP_016877565.1:n.-43C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573125" }, { "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "C", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "XR_001751213.2:n.655C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598181" }, { "@id": "http://reg.genome.network/allele/PA645416434", "coordinates": [ { "allele": "T", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN012712", "geneNCBI_id": 26276, "geneSymbol": "VPS33B", "hgvs": [ "NM_018668.5:c.319C>T" ], "proteinEffect": { "hgvs": "NP_061138.3:p.Arg107Ter", "hgvsWellDefined": "NP_061138.3:p.Arg107_Ala617delinsThrArgLysTyrLysValIlePheSerProGlnLysPheTyrAlaCysGluMetValLeuGluGluGluGlyIleTyrGlyAspValSerCysAspGluTrpAlaPheSerLeuLeuProLeuAspValAspLeuLeuSerMetGluLeuProGluPhePheArgAspTyrPheLeuGluGlyAspGlnArgTrpIleAsnThrValAlaGlnAlaLeuHisLeuLeuSerThrLeuTyrGlyProPheProAsnCysTyrGlyIleGlyArgCysAlaLysMetAlaTyrGluLeuTrpArgAsnLeuGluGluGluGluAspGlyGluThrLysGlyArgArgProGluIleGlyHisIlePheLeuLeuAspArgAspValAspPheValThrAlaLeuCysSerGlnValValTyrGluGlyLeuValAspAspThrPheArgIleLysCysGlySerValAspPheGlyProGluValThrSerSerAspLysSerLeuLysValLeuLeuAsnAlaGluAspLysValPheAsnGluIleArgAsnGluHisPheSerAsnValPheGlyPheLeuSerGlnLysAlaArgAsnLeuGlnAlaGlnTyrAspArgArgArgGlyMetAspIleLysGlnMetLysAsnPheValSerGlnGluLeuLysGlyLeuLysGlnGluHisArgLeuLeuSerLeuHisIleGlyAlaCysGluSerIleMetLysLysLysThrLysGlnAspPheGlnGluLeuIleLysThrGluHisAlaLeuLeuGluGlyPheAsnIleArgGluSerThrSerTyrIleGluGluHisIleAspArgGlnValSerProIleGluSerLeuArgLeuMetCysLeuLeuSerIleThrGluAsnGlyLeuIleProLysAspTyrArgSerLeuLysThrGlnTyrLeuGlnSerTyrGlyProGluHisLeuLeuThrPheSerAsnLeuArgArgAlaGlyLeuLeuThrGluGlnAlaProGlyAspThrLeuThrAlaValGluSerLysValSerLysLeuValThrAspLysAlaAlaGlyLysIleThrAspAlaPheSerSerLeuAlaLysArgSerAsnPheArgAlaIleSerLysLysLeuAsnLeuIleProArgValAspGlyGluTyrAspLeuLysValProArgAspMetAlaTyrValPheGlyGlyAlaTyrValProLeuSerCysArgIleIleGluGlnValLeuGluArgArgSerTrpGlnGlyLeuAspGluValValArgLeuLeuAsnCysSerAspPheAlaPheThrAspMetThrLysGluAspLysAlaSerSerGluSerLeuArgLeuIleLeuValValPheLeuGlyGlyCysThrPheSerGluIleSerAlaLeuArgPheLeuGlyArgGluLysGlyTyrArgPheIlePheLeuThrThrAlaValThrAsnSerAlaArgLeuMetGluAlaMetSerGluValLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698071", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000333371.8:c.319C>T" }, "RefSeq": { "hgvs": "NM_018668.5:c.319C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327650.4:p.Arg107Ter" }, "RefSeq": { "hgvs": "NP_061138.3:p.Arg107Ter" } } } } ], "type": "nucleotide" }