{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA022756", "communityStandardTitle": [ "NM_000455.5(STK11):c.250A>T (p.Lys84Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3388585", "active": true, "id": "COSM3388585" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3388586", "active": true, "id": "COSM3388586" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22482[alleleid]", "alleleId": 22482, "preferredName": "NM_000455.5(STK11):c.250A>T (p.Lys84Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7443", "RCV": [ "RCV000007869", "RCV000132431", "RCV000760079" ], "variationId": 7443 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1207162A>T?assembly=hg19", "id": "chr19:g.1207162A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1207163A>T?assembly=hg38", "id": "chr19:g.1207163A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137853076", "rs": 137853076 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1207163, "referenceAllele": "A", "start": 1207162 } ], "hgvs": [ "NC_000019.10:g.1207163A>T", "CM000681.2:g.1207163A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1207162, "referenceAllele": "A", "start": 1207161 } ], "hgvs": [ "NC_000019.9:g.1207162A>T", "CM000681.1:g.1207162A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1158162, "referenceAllele": "A", "start": 1158161 } ], "hgvs": [ "NC_000019.8:g.1158162A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 22757, "referenceAllele": "A", "start": 22756 } ], "hgvs": [ "NG_007460.2:g.22757A>T", "LRG_319:g.22757A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "A", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Lys84Ter", "hgvsWellDefined": "ENSP00000490268.2:p.Lys84_Gln404delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "T", "end": 599, "endIntronDirection": "-", "endIntronOffset": 11253, "referenceAllele": "A", "start": 599, "startIntronDirection": "-", "startIntronOffset": 11254 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.-82-11254A>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:n.-82-11254A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Lys84Ter", "hgvsWellDefined": "ENSP00000467912.2:p.Lys84_Gln375delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { 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"ENSP00000324856.6:p.Lys84_Gln433delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.250A>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.250A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Lys84Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Lys84Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "A", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Lys84Ter", "hgvsWellDefined": "ENSP00000498804.1:p.Lys84_Gln404delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "A", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Lys84Ter", "hgvsWellDefined": "ENSP00000324856.6:p.Lys84_Gln433delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "T", "end": 599, "endIntronDirection": "-", "endIntronOffset": 11253, "referenceAllele": "A", "start": 599, "startIntronDirection": "-", "startIntronOffset": 11254 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.2:c.-82-11254A>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.1:n.-82-11254A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS388929" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "A", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.1:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.1:p.Lys84Ter", "hgvsWellDefined": "ENSP00000467912.1:p.Lys84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247350" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "A", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Lys84Ter", "hgvsWellDefined": "ENSP00000467240.2:p.Lys84_Gln432delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluAlaGlyProProThrLeuProAlaArgProAlaAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "A", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586358.5:n.73A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389344" }, { "coordinates": [ { "allele": "T", "end": 340, "referenceAllele": "A", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.340A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "A", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000593219.5:c.250A>T" ], "proteinEffect": { "hgvs": "ENSP00000466610.1:p.Lys84Ter", "hgvsWellDefined": "ENSP00000466610.1:p.Lys84_Leu101delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysAsnSerTrpProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS394095" }, { "@id": "http://reg.genome.network/allele/PA169837", "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "A", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.250A>T", "LRG_319t1:c.250A>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Lys84Ter", "hgvsWellDefined": "NP_000446.1:p.Lys84_Gln433delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "A", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.250A>T" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Lys84Ter", "hgvsWellDefined": "XP_005259674.1:p.Lys84_Lys600delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "A", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.250A>T" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Lys84Ter", "hgvsWellDefined": "XP_005259675.1:p.Lys84_Gln404delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" 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"http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "A", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.875A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA169837", "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "A", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.250A>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Lys84Ter", "hgvsWellDefined": "NP_000446.1:p.Lys84_Gln433delinsLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.250A>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.250A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Lys84Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Lys84Ter" } } } } ], "type": "nucleotide" }