{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA144642", "communityStandardTitle": [ "NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75284[alleleid]", "alleleId": 75284, "preferredName": "NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/60724", "RCV": [ "RCV000054518", "RCV002054880" ], "variationId": 60724 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.3328865A>T?assembly=hg19", "id": "chr1:g.3328865A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.3412301A>T?assembly=hg38", "id": "chr1:g.3412301A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514742", "rs": 397514742 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 3412301, "referenceAllele": "A", "start": 3412300 } ], "hgvs": [ "NC_000001.11:g.3412301A>T", "CM000663.2:g.3412301A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 3328865, "referenceAllele": "A", "start": 3328864 } ], "hgvs": [ "NC_000001.10:g.3328865A>T", "CM000663.1:g.3328865A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 3318725, "referenceAllele": "A", "start": 3318724 } ], "hgvs": [ "NC_000001.9:g.3318725A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 348124, "referenceAllele": "A", "start": 348123 } ], "hgvs": [ "NG_029576.1:g.348124A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004505" }, { "coordinates": [ { "allele": "T", "end": 348124, "referenceAllele": "A", "start": 348123 } ], "hgvs": [ "NG_029576.2:g.348124A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673796" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "A", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000270722.10:c.2104A>T" ], "proteinEffect": { "hgvs": "ENSP00000270722.5:p.Lys702Ter", "hgvsWellDefined": "ENSP00000270722.5:p.Lys702_Leu1276delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000270722.10:c.2104A>T" }, "RefSeq": { "hgvs": "NM_022114.4:c.2104A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000270722.5:p.Lys702Ter" }, "RefSeq": { "hgvs": "NP_071397.3:p.Lys702Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2153, "referenceAllele": "A", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000270722.9:c.2104A>T" ], "proteinEffect": { "hgvs": "ENSP00000270722.5:p.Lys702Ter", "hgvsWellDefined": "ENSP00000270722.5:p.Lys702_Leu1276delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252274" }, { "coordinates": [ { "allele": "T", "end": 2167, "referenceAllele": "A", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000378391.6:c.2104A>T" ], "proteinEffect": { "hgvs": "ENSP00000367643.2:p.Lys702Ter", "hgvsWellDefined": "ENSP00000367643.2:p.Lys702_Leu1257delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272010" }, { "coordinates": [ { "allele": "T", "end": 1531, "referenceAllele": "A", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000509860.1:c.1531A>T" ], "proteinEffect": { "hgvs": "ENSP00000425796.1:p.Lys511Ter", "hgvsWellDefined": "ENSP00000425796.1:p.Lys511_Leu1084delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340528" }, { "coordinates": [ { "allele": "T", "end": 2199, "referenceAllele": "A", "start": 2198 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000511072.5:c.2107A>T" ], "proteinEffect": { "hgvs": "ENSP00000426975.1:p.Lys703Ter", "hgvsWellDefined": "ENSP00000426975.1:p.Lys703_Gln1178delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgHisMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341416" }, { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "A", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000512462.5:n.1882A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS342470" }, { "coordinates": [ { "allele": "T", "end": 2156, "referenceAllele": "A", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "ENST00000514189.5:c.2107A>T" ], "proteinEffect": { "hgvs": "ENSP00000421400.1:p.Lys703Ter", "hgvsWellDefined": "ENSP00000421400.1:p.Lys703_Gln1177delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgHisMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343736" }, { "@id": "http://reg.genome.network/allele/PA144643", "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "A", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "NM_022114.3:c.2104A>T" ], "proteinEffect": { "hgvs": "NP_071397.3:p.Lys702Ter", "hgvsWellDefined": "NP_071397.3:p.Lys702_Leu1276delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037208" }, { "@id": "http://reg.genome.network/allele/PA916063145", "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "A", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "NM_199454.2:c.2104A>T" ], "proteinEffect": { "hgvs": "NP_955533.2:p.Lys702Ter", "hgvsWellDefined": "NP_955533.2:p.Lys702_Leu1257delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044962" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_005244772.3:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_005244829.1:p.Lys703Ter", "hgvsWellDefined": "XP_005244829.1:p.Lys703_Leu1277delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS056988" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_005244773.3:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_005244830.1:p.Lys703Ter", "hgvsWellDefined": "XP_005244830.1:p.Lys703_Leu1258delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS056989" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_005244774.3:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_005244831.1:p.Lys703Ter", "hgvsWellDefined": "XP_005244831.1:p.Lys703_Gln1178delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgHisMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS056990" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_006710814.2:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_006710877.1:p.Lys703Ter", "hgvsWellDefined": "XP_006710877.1:p.Lys703_Leu1276delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068818" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_011541944.1:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_011540246.1:p.Lys703Ter", "hgvsWellDefined": "XP_011540246.1:p.Lys703_Gly1181delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgValLeuTrpThrLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108878" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "A", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_011541945.1:c.1552A>T" ], "proteinEffect": { "hgvs": "XP_011540247.1:p.Lys518Ter", "hgvsWellDefined": "XP_011540247.1:p.Lys518_Leu1092delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108879" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_005244772.5:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_005244829.1:p.Lys703Ter", "hgvsWellDefined": "XP_005244829.1:p.Lys703_Leu1277delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532299" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_005244773.5:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_005244830.1:p.Lys703Ter", "hgvsWellDefined": "XP_005244830.1:p.Lys703_Leu1258delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532300" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_005244774.5:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_005244831.1:p.Lys703Ter", "hgvsWellDefined": "XP_005244831.1:p.Lys703_Gln1178delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgHisMetGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532301" }, { "coordinates": [ { "allele": "T", "end": 3140, "referenceAllele": "A", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_006710814.4:c.2107A>T" ], "proteinEffect": { "hgvs": "XP_006710877.1:p.Lys703Ter", "hgvsWellDefined": "XP_006710877.1:p.Lys703_Leu1276delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537882" }, { "coordinates": [ { "allele": "T", "end": 1959, "referenceAllele": "A", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_011541945.2:c.1552A>T" ], "proteinEffect": { "hgvs": "XP_011540247.1:p.Lys518Ter", "hgvsWellDefined": "XP_011540247.1:p.Lys518_Leu1092delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554624" }, { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "A", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "XM_017002050.1:c.2104A>T" ], "proteinEffect": { "hgvs": "XP_016857539.1:p.Lys702Ter", "hgvsWellDefined": "XP_016857539.1:p.Lys702_Leu1275delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558079" }, { "@id": "http://reg.genome.network/allele/PA144643", "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "A", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "NM_022114.4:c.2104A>T" ], "proteinEffect": { "hgvs": "NP_071397.3:p.Lys702Ter", "hgvsWellDefined": "NP_071397.3:p.Lys702_Leu1276delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnAlaTyrAlaMetMetLeuSerLeuSerGluAspThrProLeuHisThrProSerGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670381", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000270722.10:c.2104A>T" }, "RefSeq": { "hgvs": "NM_022114.4:c.2104A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000270722.5:p.Lys702Ter" }, "RefSeq": { "hgvs": "NP_071397.3:p.Lys702Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916063145", "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "A", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN014000", "geneNCBI_id": 63976, "geneSymbol": "PRDM16", "hgvs": [ "NM_199454.3:c.2104A>T" ], "proteinEffect": { "hgvs": "NP_955533.2:p.Lys702Ter", "hgvsWellDefined": "NP_955533.2:p.Lys702_Leu1257delinsTyrPheGlyProGlyPheMetGlyMetGlnGluLysLysLeuGlySerLeuProTyrHisSerAlaPheProPheGlnPheLeuProAsnPheProHisSerLeuTyrProPheThrAspArgAlaLeuAlaHisAsnLeuLeuValLysAlaGluProLysSerProArgAspAlaLeuLysValGlyGlyProSerAlaGluCysProPheAspLeuThrThrLysProLysAspValLysProIleLeuProMetProLysGlyProSerAlaProAlaSerGlyGluGluGlnProLeuAspLeuSerIleGlySerArgAlaArgAlaSerGlnAsnGlyGlyGlyArgGluProArgLysAsnHisValTyrGlyGluArgLysLeuGlyAlaGlyGluGlyLeuProGlnValCysProAlaArgMetProGlnGlnProProLeuHisTyrAlaLysProSerProPhePheMetAspProIleTyrSerArgValGluLysArgLysValThrAspProValGlyAlaLeuLysGluLysTyrLeuArgProSerProLeuLeuPheHisProGlnMetSerAlaIleGluThrMetThrGluLysLeuGluSerPheAlaAlaMetLysAlaAspSerGlySerSerLeuGlnProLeuProHisHisProPheAsnPheArgSerProProProThrLeuSerAspProIleLeuArgLysGlyLysGluArgTyrThrCysArgTyrCysGlyLysIlePheProArgSerAlaAsnLeuThrArgHisLeuArgThrHisThrGlyGluGlnProTyrArgCysLysTyrCysAspArgSerPheSerIleSerSerAsnLeuGlnArgHisValArgAsnIleHisAsnLysGluLysProPheLysCysHisLeuCysAsnArgCysPheGlyGlnGlnThrAsnLeuAspArgHisLeuLysLysHisGluHisGluAsnAlaProValSerGlnHisProGlyValLeuThrAsnHisLeuGlyThrSerAlaSerSerProThrSerGluSerAspAsnHisAlaLeuLeuAspGluLysGluAspSerTyrPheSerGluIleArgAsnPheIleAlaAsnSerGluMetAsnGlnAlaSerThrArgThrGluLysArgAlaAspMetGlnIleValAspGlySerAlaGlnCysProGlyLeuAlaSerGluLysGlnGluAspValGluGluGluAspAspAspAspLeuGluGluAspAspGluAspSerLeuAlaGlyLysSerGlnAspAspThrValSerProAlaProGluProGlnAlaAlaTyrGluAspGluGluAspGluGluProAlaAlaSerLeuAlaValGlyPheAspHisThrArgArgCysAlaGluAspHisGluGlyGlyLeuLeuAlaLeuGluProMetProThrPheGlyLysGlyLeuAspLeuArgArgAlaAlaGluGluAlaPheGluValLysAspValLeuAsnSerThrLeuAspSerGluAlaLeuLysHisThrLeuCysArgGlnAlaLysAsnGlnGlySerLeuAspAlaTrpLeuLysValThrGlyAlaThrSerGluSerGlyAlaPheHisProIleAsnHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701510" } ], "type": "nucleotide" }