{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402949962", "communityStandardTitle": [ "NM_000455.5(STK11):c.724G>A (p.Gly242Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=572209[alleleid]", "alleleId": 572209, "preferredName": "NM_000455.5(STK11):c.724G>A (p.Gly242Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/569540", "RCV": [ "RCV000690196" ], "variationId": 569540 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1220706G>A?assembly=hg19", "id": "chr19:g.1220706G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1220707G>A?assembly=hg38", "id": "chr19:g.1220707G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878853992", "rs": 878853992 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1220707, "referenceAllele": "G", "start": 1220706 } ], "hgvs": [ "NC_000019.10:g.1220707G>A", "CM000681.2:g.1220707G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1220706, "referenceAllele": "G", "start": 1220705 } ], "hgvs": [ "NC_000019.9:g.1220706G>A", "CM000681.1:g.1220706G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1171706, "referenceAllele": "G", "start": 1171705 } ], "hgvs": [ "NC_000019.8:g.1171706G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 36301, "referenceAllele": "G", "start": 36300 } ], "hgvs": [ "NG_007460.2:g.36301G>A", "LRG_319:g.36301G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Gly242Arg", "hgvsWellDefined": "ENSP00000490268.2:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.352G>A" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:p.Gly118Arg", "hgvsWellDefined": "ENSP00000477641.2:p.Gly118Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.550G>A" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Gly184Arg", "hgvsWellDefined": "ENSP00000467912.2:p.Gly184Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Gly242Arg", "hgvsWellDefined": "ENSP00000324856.6:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.724G>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.724G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Gly242Arg" }, "RefSeq": { "hgvs": "NP_000446.1:p.Gly242Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Gly242Arg", "hgvsWellDefined": "ENSP00000498804.1:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Gly242Arg", "hgvsWellDefined": "ENSP00000324856.6:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "G", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Gly242Arg", "hgvsWellDefined": "ENSP00000467240.2:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "A", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586358.5:n.622G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389344" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.814G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000591133.2:n.695G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392670" }, { "@id": "http://reg.genome.network/allele/PA891850059", "coordinates": [ { "allele": "A", "end": 1839, "referenceAllele": "G", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.724G>A", "LRG_319t1:c.724G>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gly242Arg", "hgvsWellDefined": "NP_000446.1:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.724G>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Gly242Arg", "hgvsWellDefined": "XP_005259674.1:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.724G>A" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Gly242Arg", "hgvsWellDefined": "XP_005259675.1:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { "coordinates": [ { "allele": "A", "end": 1480, "referenceAllele": "G", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.502G>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Gly168Arg", "hgvsWellDefined": "XP_011526511.1:p.Gly168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_936204.1:n.1349G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131414" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.724G>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Gly242Arg", "hgvsWellDefined": "XP_005259674.1:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "A", "end": 1480, "referenceAllele": "G", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.502G>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Gly168Arg", "hgvsWellDefined": "XP_011526511.1:p.Gly168Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.1349G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.1349G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.1349G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA891850059", "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.724G>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gly242Arg", "hgvsWellDefined": "NP_000446.1:p.Gly242Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.724G>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.724G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Gly242Arg" }, "RefSeq": { "hgvs": "NP_000446.1:p.Gly242Arg" } } } } ], "type": "nucleotide" }