{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA022200", "communityStandardTitle": [ "NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150803[alleleid]", "alleleId": 150803, "preferredName": "NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141089", "RCV": [ "RCV000129447", "RCV000200813", "RCV000590522", "RCV000722120" ], "variationId": 141089 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-1223102-G-A", "id": "19-1223102-G-A", "variant": "19:1223102 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1223102G>A?assembly=hg19", "id": "chr19:g.1223102G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1223103G>A?assembly=hg38", "id": "chr19:g.1223103G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369744528", "rs": 369744528 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1223102-G-A?dataset=gnomad_r2_1", "id": "19-1223102-G-A", "variant": "19:1223102 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1223103-G-A?dataset=gnomad_r3", "id": "19-1223103-G-A", "variant": "19:1223103 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1223103-G-A?dataset=gnomad_r4", "id": "19-1223103-G-A", "variant": "19:1223103 G / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1223103, "referenceAllele": "G", "start": 1223102 } ], "hgvs": [ "NC_000019.10:g.1223103G>A", "CM000681.2:g.1223103G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1223102, "referenceAllele": "G", "start": 1223101 } ], "hgvs": [ "NC_000019.9:g.1223102G>A", "CM000681.1:g.1223102G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 1174102, "referenceAllele": "G", "start": 1174101 } ], "hgvs": [ "NC_000019.8:g.1174102G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 38697, "referenceAllele": "G", "start": 38696 } ], "hgvs": [ "NG_007460.2:g.38697G>A", "LRG_319:g.38697G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000586" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2175, "referenceAllele": "G", "start": 2174 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585465.3:c.1039G>A" ], "proteinEffect": { "hgvs": "ENSP00000490268.2:p.Ala347Thr", "hgvsWellDefined": "ENSP00000490268.2:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914327" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "G", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.3:c.667G>A" ], "proteinEffect": { "hgvs": "ENSP00000477641.2:p.Ala223Thr", "hgvsWellDefined": "ENSP00000477641.2:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914328" }, { "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.2:c.865G>A" ], "proteinEffect": { "hgvs": "ENSP00000467912.2:p.Ala289Thr", "hgvsWellDefined": "ENSP00000467912.2:p.Ala289Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914330" }, { "coordinates": [ { "allele": "A", "end": 2175, "referenceAllele": "G", "start": 2174 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.12:c.1039G>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Ala347Thr", "hgvsWellDefined": "ENSP00000324856.6:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS746796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.1039G>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.1039G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Ala347Thr" }, "RefSeq": { "hgvs": "NP_000446.1:p.Ala347Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000652231.1:c.1039G>A" ], "proteinEffect": { "hgvs": "ENSP00000498804.1:p.Ala347Thr", "hgvsWellDefined": "ENSP00000498804.1:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS772089" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000326873.11:c.1039G>A" ], "proteinEffect": { "hgvs": "ENSP00000324856.6:p.Ala347Thr", "hgvsWellDefined": "ENSP00000324856.6:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "A", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586243.5:c.1039G>A" ], "proteinEffect": { "hgvs": "ENSP00000467240.2:p.Ala347Thr", "hgvsWellDefined": "ENSP00000467240.2:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "A", "end": 1737, "referenceAllele": "G", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.1737G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "G", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000591133.2:n.1010G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392670" }, { "@id": "http://reg.genome.network/allele/PA164430", "coordinates": [ { "allele": "A", "end": 2154, "referenceAllele": "G", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.1039G>A", "LRG_319t1:c.1039G>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Ala347Thr", "hgvsWellDefined": "NP_000446.1:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "G", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.1039G>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Ala347Thr", "hgvsWellDefined": "XP_005259674.1:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "G", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.1039G>A" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Ala347Thr", "hgvsWellDefined": "XP_005259675.1:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.1:c.817G>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Ala273Thr", "hgvsWellDefined": "XP_011526511.1:p.Ala273Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS095281" }, { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "G", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_936204.1:n.1815G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS131414" }, { "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "G", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.3:c.1039G>A" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Ala347Thr", "hgvsWellDefined": "XP_005259674.1:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.817G>A" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Ala273Thr", "hgvsWellDefined": "XP_011526511.1:p.Ala273Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "A", "end": 1845, "referenceAllele": "G", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.1845G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "A", "end": 1845, "referenceAllele": "G", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.1845G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "G", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.1815G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA164430", "coordinates": [ { "allele": "A", "end": 2175, "referenceAllele": "G", "start": 2174 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.1039G>A" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Ala347Thr", "hgvsWellDefined": "NP_000446.1:p.Ala347Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.1039G>A" }, "RefSeq": { "hgvs": "NM_000455.5:c.1039G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Ala347Thr" }, "RefSeq": { "hgvs": "NP_000446.1:p.Ala347Thr" } } } } ], "type": "nucleotide" }