{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA022540", "communityStandardTitle": [ "NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181082[alleleid]", "alleleId": 181082, "preferredName": "NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182919", "RCV": [ "RCV000161014", "RCV000564627", "RCV000699445" ], "variationId": 182919 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-1226596-T-A", "id": "19-1226596-T-A", "variant": "19:1226596 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1226596T>A?assembly=hg19", "id": "chr19:g.1226596T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1226597T>A?assembly=hg38", "id": "chr19:g.1226597T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730881991", "rs": 730881991 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1226596-T-A?dataset=gnomad_r2_1", "id": "19-1226596-T-A", "variant": "19:1226596 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1226597-T-A?dataset=gnomad_r4", "id": "19-1226597-T-A", "variant": "19:1226597 T / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1226597, "referenceAllele": "T", "start": 1226596 } ], "hgvs": [ "NC_000019.10:g.1226597T>A", "CM000681.2:g.1226597T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1226596, "referenceAllele": "T", "start": 1226595 } ], "hgvs": [ "NC_000019.9:g.1226596T>A", "CM000681.1:g.1226596T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1177596, "referenceAllele": "T", "start": 1177595 } ], "hgvs": [ "NC_000019.8:g.1177596T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 42191, "referenceAllele": "T", "start": 42190 } ], "hgvs": [ "NG_007460.2:g.42191T>A", "LRG_319:g.42191T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5204, "referenceAllele": "T", "start": 5203 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.*2853T>A" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:n.*2853T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "T", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.880T>A" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:p.Cys294Ser", "hgvsWellDefined": "ENSP00000477641.2:p.Cys294Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "A", "end": 1123, "referenceAllele": "T", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.1078T>A" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Cys360Ser", "hgvsWellDefined": "ENSP00000467912.2:p.Cys360Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "A", "end": 2388, "referenceAllele": "T", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.1252T>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Cys418Ser", "hgvsWellDefined": "ENSP00000324856.6:p.Cys418Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.1252T>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.1252T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Cys418Ser" }, "RefSeq": { "hgvs": "NP_000446.1:p.Cys418Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 1702, "referenceAllele": "T", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.1252T>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Cys418Ser", "hgvsWellDefined": "ENSP00000324856.6:p.Cys418Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "A", "end": 2985, "referenceAllele": "T", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.2:n.2985T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388740" }, { "coordinates": [ { "allele": "A", "end": 2211, "referenceAllele": "T", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.1251T>A" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Pro417=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "A", "end": 1950, "referenceAllele": "T", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.1950T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "@id": "http://reg.genome.network/allele/PA300040", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "T", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.1252T>A", "LRG_319t1:c.1252T>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Cys418Ser", "hgvsWellDefined": "NP_000446.1:p.Cys418Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "A", "end": 1872, "referenceAllele": "T", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.1247T>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Leu416Gln", "hgvsWellDefined": "XP_005259674.1:p.Leu416Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "T", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.1025T>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Leu342Gln", "hgvsWellDefined": "XP_011526511.1:p.Leu342Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "A", "end": 1872, "referenceAllele": "T", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.1247T>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Leu416Gln", "hgvsWellDefined": "XP_005259674.1:p.Leu416Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "T", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.1025T>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Leu342Gln", "hgvsWellDefined": "XP_011526511.1:p.Leu342Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "A", "end": 2058, "referenceAllele": "T", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.2058T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "A", "end": 2028, "referenceAllele": "T", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.2028T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA300040", "coordinates": [ { "allele": "A", "end": 2388, "referenceAllele": "T", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.1252T>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Cys418Ser", "hgvsWellDefined": "NP_000446.1:p.Cys418Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.1252T>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.1252T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Cys418Ser" }, "RefSeq": { "hgvs": "NP_000446.1:p.Cys418Ser" } } } } ], "type": "nucleotide" }