{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394654874", "communityStandardTitle": [ "NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1451475[alleleid]", "alleleId": 1451475, "preferredName": "NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453951", "RCV": [ "RCV001941630" ], "variationId": 1453951 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.4851273G>A?assembly=hg19", "id": "chr16:g.4851273G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.4801272G>A?assembly=hg38", "id": "chr16:g.4801272G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2082712944", "rs": 2082712944 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-4801272-G-A?dataset=gnomad_r3", "id": "16-4801272-G-A", "variant": "16:4801272 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-4801272-G-A?dataset=gnomad_r4", "id": "16-4801272-G-A", "variant": "16:4801272 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 4801272, "referenceAllele": "G", "start": 4801271 } ], "hgvs": [ "NC_000016.10:g.4801272G>A", "CM000678.2:g.4801272G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 4851273, "referenceAllele": "G", "start": 4851272 } ], "hgvs": [ "NC_000016.9:g.4851273G>A", "CM000678.1:g.4851273G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 4791274, "referenceAllele": "G", "start": 4791273 } ], "hgvs": [ "NC_000016.8:g.4791274G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 6679, "referenceAllele": "C", "start": 6678 } ], "hgvs": [ "NG_032174.1:g.6679C>T", "LRG_455:g.6679C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005166" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000322048.12:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000322832.6:p.Gln84Ter", "hgvsWellDefined": "ENSP00000322832.6:p.Gln84_Phe287delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746464", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000322048.12:c.250C>T" }, "RefSeq": { "hgvs": "NM_024589.3:c.250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322832.6:p.Gln84Ter" }, "RefSeq": { "hgvs": "NP_078865.1:p.Gln84Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000322048.11:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000322832.5:p.Gln84Ter", "hgvsWellDefined": "ENSP00000322832.5:p.Gln84_Phe287delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258025" }, { "coordinates": [ { "allele": "T", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000585653.1:n.382C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388864" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000585871.1:n.740C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389002" }, { "coordinates": [ { "allele": "T", "end": 354, "endIntronDirection": "+", "endIntronOffset": 231, "referenceAllele": "C", "start": 354, "startIntronDirection": "+", "startIntronOffset": 230 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000586336.5:n.354+231C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389329" }, { "coordinates": [ { "allele": "T", "end": 30, "referenceAllele": "C", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000586504.5:c.30C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389431" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000587377.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000468343.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000468343.1:p.Gln84_Ala230delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluProThrProProLeuProAlaAlaAspGlyArgSerAspAlaAlaAlaAspGlnSerProLysProAlaHisHisProArgHisProHisProProArgAspArgArgGlnArgProHisAlaAspValArgProCysProAlaValArgProAlaGlyGlnArgLeuHisGlnProGlnGlnAlaLeuProHisGlyValProAlaAlaCysProAlaAlaGlnLeuHisGlnGluLeuProProSerTrpGlyArgGlyAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS390035" }, { "coordinates": [ { "allele": "T", "end": 173, "endIntronDirection": "+", "endIntronOffset": 1110, "referenceAllele": "C", "start": 173, "startIntronDirection": "+", "startIntronOffset": 1109 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000587711.5:c.117+1110C>T" ], "proteinEffect": { "hgvs": "ENSP00000467459.1:n.117+1110C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390269" }, { "coordinates": [ { "allele": "T", "end": 262, "endIntronDirection": "+", "endIntronOffset": 231, "referenceAllele": "C", "start": 262, "startIntronDirection": "+", "startIntronOffset": 230 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000587843.5:c.200+231C>T" ], "proteinEffect": { "hgvs": "ENSP00000465970.1:n.200+231C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390363" }, { "coordinates": [ { "allele": "T", "end": 352, "referenceAllele": "C", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000588201.5:c.250C>T" ], "proteinEffect": { "hgvs": "ENSP00000466529.1:p.Gln84Ter", "hgvsWellDefined": "ENSP00000466529.1:p.Gln84_Pro119delinsAlaValSerProProAlaLeuSerProProIleLeuProMetGlyLysSerMetGlyAlaProThrPheSerLeuTyrLysProCysAspSerGlyArgAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS390616" }, { "coordinates": [ { "allele": "T", "end": 207, "referenceAllele": "C", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000589543.5:n.207C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391561" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000591292.5:n.891C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392776" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "C", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "ENST00000591392.5:c.178C>T" ], "proteinEffect": { "hgvs": "ENSP00000467509.1:p.Gln60Ter", "hgvsWellDefined": "ENSP00000467509.1:p.Gln60_Gly254del" }, "referenceSequence": "http://reg.genome.network/refseq/RS392839" }, { "@id": "http://reg.genome.network/allele/PA2573285091", "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "NM_024589.2:c.250C>T", "LRG_455t1:c.250C>T" ], "proteinEffect": { "hgvs": "NP_078865.1:p.Gln84Ter", "hgvsWellDefined": "NP_078865.1:p.Gln84_Phe287delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037848" }, { "coordinates": [ { "allele": "T", "end": 579, "endIntronDirection": "+", "endIntronOffset": 231, "referenceAllele": "C", "start": 579, "startIntronDirection": "+", "startIntronOffset": 230 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "NR_046480.1:n.579+231C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051729" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "XM_006720947.2:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006721010.1:p.Gln84Ter", "hgvsWellDefined": "XP_006721010.1:p.Gln84_Phe294delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetLeuAspProLeuThrAlaHisSerGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073870" }, { "coordinates": [ { "allele": "T", "end": 262, "endIntronDirection": "+", "endIntronOffset": 231, "referenceAllele": "C", "start": 262, "startIntronDirection": "+", "startIntronOffset": 230 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "XM_006720948.2:c.-16+231C>T" ], "proteinEffect": { "hgvs": "XP_006721011.1:n.-16+231C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073871" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "XM_006720947.4:c.250C>T" ], "proteinEffect": { "hgvs": "XP_006721010.1:p.Gln84Ter", "hgvsWellDefined": "XP_006721010.1:p.Gln84_Phe294delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetLeuAspProLeuThrAlaHisSerGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540198" }, { "coordinates": [ { "allele": "T", "end": 489, "endIntronDirection": "+", "endIntronOffset": 231, "referenceAllele": "C", "start": 489, "startIntronDirection": "+", "startIntronOffset": 230 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "XM_006720948.4:c.-16+231C>T" ], "proteinEffect": { "hgvs": "XP_006721011.1:n.-16+231C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540199" }, { "@id": "http://reg.genome.network/allele/PA2573285091", "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "NM_024589.3:c.250C>T" ], "proteinEffect": { "hgvs": "NP_078865.1:p.Gln84Ter", "hgvsWellDefined": "NP_078865.1:p.Gln84_Phe287delinsAlaAspValAsnLeuLysMetProArgAsnAsnGlnLeuLeuHisPheAlaPheArgGluAspLysGlnTrpLysLeuGlnGlnIleGlnAspAlaArgAsnHisValSerGlnAlaIleTyrLeuLeuThrSerArgAspGlnSerTyrGlnPheLysThrGlyAlaGluValLeuLysLeuMetAspAlaValMetLeuGlnLeuThrArgAlaArgAsnArgLeuThrThrProAlaThrLeuThrLeuProGluIleAlaAlaSerGlyLeuThrArgMetPheAlaProAlaLeuProSerAspLeuLeuValAsnValTyrIleAsnLeuAsnLysLeuCysLeuThrValTyrGlnLeuHisAlaLeuGlnProAsnSerThrLysAsnPheArgProAlaGlyGlyAlaValLeuHisSerProGlyAlaMetPheGluTrpGlySerGlnArgLeuGluValSerHisValHisLysValGluCysValIleProTrpLeuAsnAspAlaLeuValTyrPheThrValSerLeuGlnLeuCysGlnGlnLeuLysAspLysIleSerValPheSerSerTyrTrpSerTyrArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698723", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000322048.12:c.250C>T" }, "RefSeq": { "hgvs": "NM_024589.3:c.250C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000322832.6:p.Gln84Ter" }, "RefSeq": { "hgvs": "NP_078865.1:p.Gln84Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 262, "endIntronDirection": "+", "endIntronOffset": 231, "referenceAllele": "C", "start": 262, "startIntronDirection": "+", "startIntronOffset": 230 } ], "gene": "http://reg.genome.network/gene/GN029478", "geneNCBI_id": 79641, "geneSymbol": "ROGDI", "hgvs": [ "NR_046480.2:n.262+231C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730438" } ], "type": "nucleotide" }