{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA023267", "communityStandardTitle": [ "NM_000455.5(STK11):c.759C>A (p.Tyr253Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22478[alleleid]", "alleleId": 22478, "preferredName": "NM_000455.5(STK11):c.759C>A (p.Tyr253Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7439", "RCV": [ "RCV000007865" ], "variationId": 7439 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1221236C>A?assembly=hg19", "id": "chr19:g.1221236C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1221237C>A?assembly=hg38", "id": "chr19:g.1221237C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137853075", "rs": 137853075 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1221237, "referenceAllele": "C", "start": 1221236 } ], "hgvs": [ "NC_000019.10:g.1221237C>A", "CM000681.2:g.1221237C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1221236, "referenceAllele": "C", "start": 1221235 } ], "hgvs": [ "NC_000019.9:g.1221236C>A", "CM000681.1:g.1221236C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1172236, "referenceAllele": "C", "start": 1172235 } ], "hgvs": [ "NC_000019.8:g.1172236C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 36831, "referenceAllele": "C", "start": 36830 } ], "hgvs": [ "NG_007460.2:g.36831C>A", "LRG_319:g.36831C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.759C>A" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Tyr253Ter", "hgvsWellDefined": "ENSP00000490268.2:p.Tyr253_Gln404delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.387C>A" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:p.Tyr129Ter", "hgvsWellDefined": "ENSP00000477641.2:p.Tyr129_Gln309delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.585C>A" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Tyr195Ter", "hgvsWellDefined": "ENSP00000467912.2:p.Tyr195_Gln375delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.759C>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Tyr253Ter", "hgvsWellDefined": "ENSP00000324856.6:p.Tyr253_Gln433delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.759C>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.759C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Tyr253Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Tyr253Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1487, "referenceAllele": "C", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.759C>A" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Tyr253Ter", "hgvsWellDefined": "ENSP00000498804.1:p.Tyr253_Gln404delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.759C>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Tyr253Ter", "hgvsWellDefined": "ENSP00000324856.6:p.Tyr253_Gln433delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "A", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.759C>A" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Tyr253Ter", "hgvsWellDefined": "ENSP00000467240.2:p.Tyr253_Gln432delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluAlaGlyProProThrLeuProAlaArgProAlaAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "A", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586358.5:n.657C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389344" }, { "coordinates": [ { "allele": "A", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.849C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000591133.2:n.730C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392670" }, { "@id": "http://reg.genome.network/allele/PA254177", "coordinates": [ { "allele": "A", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.759C>A", "LRG_319t1:c.759C>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Tyr253Ter", "hgvsWellDefined": "NP_000446.1:p.Tyr253_Gln433delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.759C>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Tyr253Ter", "hgvsWellDefined": "XP_005259674.1:p.Tyr253_Lys600delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.759C>A" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Tyr253Ter", "hgvsWellDefined": "XP_005259675.1:p.Tyr253_Gln404delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.537C>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Tyr179Ter", "hgvsWellDefined": "XP_011526511.1:p.Tyr179_Lys526delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_936204.1:n.1384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131414" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.759C>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Tyr253Ter", "hgvsWellDefined": "XP_005259674.1:p.Tyr253_Lys600delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.537C>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Tyr179Ter", "hgvsWellDefined": "XP_011526511.1:p.Tyr179_Lys526delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.1384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.1384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "C", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.1384C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA254177", "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.759C>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Tyr253Ter", "hgvsWellDefined": "NP_000446.1:p.Tyr253_Gln433delinsProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.759C>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.759C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Tyr253Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Tyr253Ter" } } } } ], "type": "nucleotide" }