{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402950753", "communityStandardTitle": [ "NM_000455.5(STK11):c.854T>C (p.Leu285Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=432950[alleleid]", "alleleId": 432950, "preferredName": "NM_000455.5(STK11):c.854T>C (p.Leu285Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439305", "RCV": [ "RCV000508448", "RCV000697905", "RCV002413391" ], "variationId": 439305 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1221331T>C?assembly=hg19", "id": "chr19:g.1221331T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1221332T>C?assembly=hg38", "id": "chr19:g.1221332T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555738724", "rs": 1555738724 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 1221332, "referenceAllele": "T", "start": 1221331 } ], "hgvs": [ "NC_000019.10:g.1221332T>C", "CM000681.2:g.1221332T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 1221331, "referenceAllele": "T", "start": 1221330 } ], "hgvs": [ "NC_000019.9:g.1221331T>C", "CM000681.1:g.1221331T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "C", "end": 1172331, "referenceAllele": "T", "start": 1172330 } ], "hgvs": [ "NC_000019.8:g.1172331T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "C", "end": 36926, "referenceAllele": "T", "start": 36925 } ], "hgvs": [ "NG_007460.2:g.36926T>C", "LRG_319:g.36926T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.854T>C" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Leu285Pro", "hgvsWellDefined": "ENSP00000490268.2:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "C", "end": 1163, "referenceAllele": "T", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.482T>C" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:p.Leu161Pro", "hgvsWellDefined": "ENSP00000477641.2:p.Leu161Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "C", "end": 725, "referenceAllele": "T", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.680T>C" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Leu227Pro", "hgvsWellDefined": "ENSP00000467912.2:p.Leu227Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "C", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.854T>C" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Leu285Pro", "hgvsWellDefined": "ENSP00000324856.6:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.854T>C" }, "RefSeq": { "hgvs": "NM_000455.5:c.854T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Leu285Pro" }, "RefSeq": { "hgvs": "NP_000446.1:p.Leu285Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 1582, "referenceAllele": "T", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.854T>C" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Leu285Pro", "hgvsWellDefined": "ENSP00000498804.1:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "C", "end": 1304, "referenceAllele": "T", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.854T>C" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Leu285Pro", "hgvsWellDefined": "ENSP00000324856.6:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "C", "end": 1814, "referenceAllele": "T", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.854T>C" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Leu285Pro", "hgvsWellDefined": "ENSP00000467240.2:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "C", "end": 752, "referenceAllele": "T", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586358.5:n.752T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS389344" }, { "coordinates": [ { "allele": "C", "end": 944, "referenceAllele": "T", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.944T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "C", "end": 825, "referenceAllele": "T", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000591133.2:n.825T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS392670" }, { "@id": "http://reg.genome.network/allele/PA645509816", "coordinates": [ { "allele": "C", "end": 1969, "referenceAllele": "T", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.854T>C", "LRG_319t1:c.854T>C" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Leu285Pro", "hgvsWellDefined": "NP_000446.1:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.854T>C" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Leu285Pro", "hgvsWellDefined": "XP_005259674.1:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.854T>C" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Leu285Pro", "hgvsWellDefined": "XP_005259675.1:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { "coordinates": [ { "allele": "C", "end": 1610, "referenceAllele": "T", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.632T>C" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Leu211Pro", "hgvsWellDefined": "XP_011526511.1:p.Leu211Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_936204.1:n.1479T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS131414" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.854T>C" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Leu285Pro", "hgvsWellDefined": "XP_005259674.1:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "C", "end": 1610, "referenceAllele": "T", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.632T>C" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Leu211Pro", "hgvsWellDefined": "XP_011526511.1:p.Leu211Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.1479T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.1479T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "C", "end": 1479, "referenceAllele": "T", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.1479T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA645509816", "coordinates": [ { "allele": "C", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.854T>C" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Leu285Pro", "hgvsWellDefined": "NP_000446.1:p.Leu285Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.854T>C" }, "RefSeq": { "hgvs": "NM_000455.5:c.854T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Leu285Pro" }, "RefSeq": { "hgvs": "NP_000446.1:p.Leu285Pro" } } } } ], "type": "nucleotide" }