{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA022691", "communityStandardTitle": [ "NM_000455.5(STK11):c.169G>T (p.Glu57Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=29464", "active": true, "id": "COSM29464" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22486[alleleid]", "alleleId": 22486, "preferredName": "NM_000455.5(STK11):c.169G>T (p.Glu57Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7447", "RCV": [ "RCV000007873" ], "variationId": 7447 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1207081G>T?assembly=hg19", "id": "chr19:g.1207081G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1207082G>T?assembly=hg38", "id": "chr19:g.1207082G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137854584", "rs": 137854584 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1207082-G-T?dataset=gnomad_r4", "id": "19-1207082-G-T", "variant": "19:1207082 G / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1207082, "referenceAllele": "G", "start": 1207081 } ], "hgvs": [ "NC_000019.10:g.1207082G>T", "CM000681.2:g.1207082G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1207081, "referenceAllele": "G", "start": 1207080 } ], "hgvs": [ "NC_000019.9:g.1207081G>T", "CM000681.1:g.1207081G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 1158081, "referenceAllele": "G", "start": 1158080 } ], "hgvs": [ "NC_000019.8:g.1158081G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 22676, "referenceAllele": "G", "start": 22675 } ], "hgvs": [ "NG_007460.2:g.22676G>T", "LRG_319:g.22676G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Glu57Ter", "hgvsWellDefined": "ENSP00000490268.2:p.Glu57_Gln404delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "T", "end": 599, "endIntronDirection": "-", "endIntronOffset": 11334, "referenceAllele": "G", "start": 599, "startIntronDirection": "-", "startIntronOffset": 11335 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.-82-11335G>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:n.-82-11335G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Glu57Ter", "hgvsWellDefined": "ENSP00000467912.2:p.Glu57_Gln375delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Glu57Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.169G>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.169G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Glu57Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Glu57Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "G", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Glu57Ter", "hgvsWellDefined": "ENSP00000498804.1:p.Glu57_Gln404delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Glu57Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "T", "end": 599, "endIntronDirection": "-", "endIntronOffset": 11334, "referenceAllele": "G", "start": 599, "startIntronDirection": "-", "startIntronOffset": 11335 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.2:c.-82-11335G>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.1:n.-82-11335G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS388929" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.1:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.1:p.Glu57Ter", "hgvsWellDefined": "ENSP00000467912.1:p.Glu57Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247350" }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Glu57Ter", "hgvsWellDefined": "ENSP00000467240.2:p.Glu57_Gln432delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluAlaGlyProProThrLeuProAlaArgProAlaAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.259G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "G", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000593219.5:c.169G>T" ], "proteinEffect": { "hgvs": "ENSP00000466610.1:p.Glu57Ter", "hgvsWellDefined": "ENSP00000466610.1:p.Glu57_Leu101delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysAsnSerTrpProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS394095" }, { "@id": "http://reg.genome.network/allele/PA254182", "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "G", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.169G>T", "LRG_319t1:c.169G>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Glu57Ter", "hgvsWellDefined": "NP_000446.1:p.Glu57_Gln433delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.169G>T" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Glu57Ter", "hgvsWellDefined": "XP_005259674.1:p.Glu57_Lys600delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.169G>T" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Glu57Ter", "hgvsWellDefined": "XP_005259675.1:p.Glu57_Gln404delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.-185G>T" ], "proteinEffect": { "hgvs": "XP_011526511.1:n.-185G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_936204.1:n.794G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS131414" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.169G>T" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Glu57Ter", "hgvsWellDefined": "XP_005259674.1:p.Glu57_Lys600delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.-185G>T" ], "proteinEffect": { "hgvs": "XP_011526511.1:n.-185G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.794G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.794G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.794G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA254182", "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.169G>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Glu57Ter", "hgvsWellDefined": "NP_000446.1:p.Glu57_Gln433delinsGlySerTyrGlyLysValLysGluValLeuAspSerGluThrLeuCysArgArgAlaValLysIleLeuLysLysLysLysLeuArgArgIleProAsnGlyGluAlaAsnValLysLysGluIleGlnLeuLeuArgArgLeuArgHisLysAsnValIleGlnLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.169G>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.169G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Glu57Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Glu57Ter" } } } } ], "type": "nucleotide" }