{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA396469477", "communityStandardTitle": [ "NM_004360.5(CDH1):c.2195G>T (p.Arg732Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=844177[alleleid]", "alleleId": 844177, "preferredName": "NM_004360.5(CDH1):c.2195G>T (p.Arg732Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/843802", "RCV": [ "RCV001046500", "RCV002258101", "RCV003462535" ], "variationId": 843802 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68862107G>T?assembly=hg19", "id": "chr16:g.68862107G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.68828204G>T?assembly=hg38", "id": "chr16:g.68828204G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501244", "rs": 1060501244 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-68862107-G-T?dataset=gnomad_r2_1", "id": "16-68862107-G-T", "variant": "16:68862107 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 68828204, "referenceAllele": "G", "start": 68828203 } ], "hgvs": [ "NC_000016.10:g.68828204G>T", "CM000678.2:g.68828204G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 68862107, "referenceAllele": "G", "start": 68862106 } ], "hgvs": [ "NC_000016.9:g.68862107G>T", "CM000678.1:g.68862107G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 67419608, "referenceAllele": "G", "start": 67419607 } ], "hgvs": [ "NC_000016.8:g.67419608G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 95913, "referenceAllele": "G", "start": 95912 } ], "hgvs": [ "NG_008021.1:g.95913G>T", "LRG_301:g.95913G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000781" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.10:c.2195G>T" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Arg732Leu", "hgvsWellDefined": "ENSP00000261769.4:p.Arg732Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS742206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.2195G>T" }, "RefSeq": { "hgvs": "NM_004360.5:c.2195G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Arg732Leu" }, "RefSeq": { "hgvs": "NP_004351.1:p.Arg732Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.9:c.2195G>T" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Arg732Leu", "hgvsWellDefined": "ENSP00000261769.4:p.Arg732Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS250839" }, { "coordinates": [ { "allele": "T", "end": 2076, "referenceAllele": "G", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000422392.6:c.2012G>T" ], "proteinEffect": { "hgvs": "ENSP00000414946.2:p.Arg671Leu", "hgvsWellDefined": "ENSP00000414946.2:p.Arg671Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS287256" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000562118.1:n.413G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376575" }, { "coordinates": [ { "allele": "T", "end": 2266, "referenceAllele": "G", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000562836.5:n.2266G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377038" }, { "coordinates": [ { "allele": "T", "end": 2170, "referenceAllele": "G", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566510.5:c.*861G>T" ], "proteinEffect": { "hgvs": "ENSP00000458139.1:n.*861G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS379490" }, { "coordinates": [ { "allele": "T", "end": 2153, "referenceAllele": "G", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566612.5:c.*435G>T" ], "proteinEffect": { "hgvs": "ENSP00000454782.1:n.*435G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS379559" }, { "coordinates": [ { "allele": "T", "end": 2382, "referenceAllele": "G", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000611625.4:c.2258G>T" ], "proteinEffect": { "hgvs": "ENSP00000481063.1:p.Arg753Leu", "hgvsWellDefined": "ENSP00000481063.1:p.Arg753Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS400932" }, { "coordinates": [ { "allele": "T", "end": 1977, "endIntronDirection": "+", "endIntronOffset": 1650, "referenceAllele": "G", "start": 1977, "startIntronDirection": "+", "startIntronOffset": 1649 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000612417.4:c.1853+1650G>T" ], "proteinEffect": { "hgvs": "ENSP00000478360.1:n.1853+1650G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401297" }, { "coordinates": [ { "allele": "T", "end": 1972, "endIntronDirection": "-", "endIntronOffset": 5998, "referenceAllele": "G", "start": 1972, "startIntronDirection": "-", "startIntronOffset": 5999 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000621016.4:c.1866-5999G>T" ], "proteinEffect": { "hgvs": "ENSP00000480664.1:n.1866-5999G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405076" }, { "@id": "http://reg.genome.network/allele/PA2829526653", "coordinates": [ { "allele": "T", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.3:c.2195G>T", "LRG_301t1:c.2195G>T" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Arg732Leu", "hgvsWellDefined": "NP_004351.1:p.Arg732Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS029525" }, { "coordinates": [ { "allele": "T", "end": 2185, "referenceAllele": "G", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523488.1:c.1460G>T" ], "proteinEffect": { "hgvs": "XP_011521790.1:p.Arg487Leu", "hgvsWellDefined": "XP_011521790.1:p.Arg487Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090625" }, { "coordinates": [ { "allele": "T", "end": 2472, "referenceAllele": "G", "start": 2471 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523489.1:c.1460G>T" ], "proteinEffect": { "hgvs": "XP_011521791.1:p.Arg487Leu", "hgvsWellDefined": "XP_011521791.1:p.Arg487Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090626" }, { "@id": "http://reg.genome.network/allele/PA2826962676", "coordinates": [ { "allele": "T", "end": 2138, "referenceAllele": "G", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.1:c.2012G>T" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Arg671Leu", "hgvsWellDefined": "NP_001304113.1:p.Arg671Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS512453" }, { "@id": "http://reg.genome.network/allele/PA2826964818", "coordinates": [ { "allele": "T", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.1:c.647G>T" ], "proteinEffect": { "hgvs": "NP_001304114.1:p.Arg216Leu", "hgvsWellDefined": "NP_001304114.1:p.Arg216Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS512454" }, { "@id": "http://reg.genome.network/allele/PA1139699043", "coordinates": [ { "allele": "T", "end": 2175, "referenceAllele": "G", "start": 2174 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.1:c.230G>T" ], "proteinEffect": { "hgvs": "NP_001304115.1:p.Arg77Leu", "hgvsWellDefined": "NP_001304115.1:p.Arg77Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS512455" }, { "@id": "http://reg.genome.network/allele/PA2829526653", "coordinates": [ { "allele": "T", "end": 2321, "referenceAllele": "G", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.4:c.2195G>T" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Arg732Leu", "hgvsWellDefined": "NP_004351.1:p.Arg732Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS525201" }, { "@id": "http://reg.genome.network/allele/PA2829526653", "coordinates": [ { "allele": "T", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.5:c.2195G>T" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Arg732Leu", "hgvsWellDefined": "NP_004351.1:p.Arg732Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS666445", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.2195G>T" }, "RefSeq": { "hgvs": "NM_004360.5:c.2195G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Arg732Leu" }, "RefSeq": { "hgvs": "NP_004351.1:p.Arg732Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2826962676", "coordinates": [ { "allele": "T", "end": 2136, "referenceAllele": "G", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.2:c.2012G>T" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Arg671Leu", "hgvsWellDefined": "NP_001304113.1:p.Arg671Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS684261" }, { "@id": "http://reg.genome.network/allele/PA2826964818", "coordinates": [ { "allele": "T", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.2:c.647G>T" ], "proteinEffect": { "hgvs": "NP_001304114.1:p.Arg216Leu", "hgvsWellDefined": "NP_001304114.1:p.Arg216Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS684262" }, { "@id": "http://reg.genome.network/allele/PA1139699043", "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "G", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.2:c.230G>T" ], "proteinEffect": { "hgvs": "NP_001304115.1:p.Arg77Leu", "hgvsWellDefined": "NP_001304115.1:p.Arg77Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS684263" } ], "type": "nucleotide" }