{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2229978183", "communityStandardTitle": [ "NM_004360.5(CDH1):c.2512A= (p.Ser838=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121964872", "rs": 121964872 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 68833362, "referenceAllele": "A", "start": 68833361 } ], "hgvs": [ "NC_000016.10:g.68833362A=", "CM000678.2:g.68833362A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 68867265, "referenceAllele": "A", "start": 68867264 } ], "hgvs": [ "NC_000016.9:g.68867265A=", "CM000678.1:g.68867265A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 67424766, "referenceAllele": "A", "start": 67424765 } ], "hgvs": [ "NC_000016.8:g.67424766A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 101071, "referenceAllele": "A", "start": 101070 } ], "hgvs": [ "NG_008021.1:g.101071A=", "LRG_301:g.101071A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000781" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "A", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.10:c.2512A=" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Ser838=" }, "referenceSequence": "http://reg.genome.network/refseq/RS742206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.2512A=" }, "RefSeq": { "hgvs": "NM_004360.5:c.2512A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Ser838=" }, "RefSeq": { "hgvs": "NP_004351.1:p.Ser838=" } } } }, { "coordinates": [ { "allele": "A", "end": 2703, "referenceAllele": "A", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000261769.9:c.2512A=" ], "proteinEffect": { "hgvs": "ENSP00000261769.4:p.Ser838=" }, "referenceSequence": "http://reg.genome.network/refseq/RS250839" }, { "coordinates": [ { "allele": "A", "end": 2393, "referenceAllele": "A", "start": 2392 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000422392.6:c.2329A=" ], "proteinEffect": { "hgvs": "ENSP00000414946.2:p.Ser777=" }, "referenceSequence": "http://reg.genome.network/refseq/RS287256" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "A", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000562118.1:n.730A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS376575" }, { "coordinates": [ { "allele": "A", "end": 2583, "referenceAllele": "A", "start": 2582 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000562836.5:n.2583A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS377038" }, { "coordinates": [ { "allele": "A", "end": 2487, "referenceAllele": "A", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566510.5:c.*1178A=" ], "proteinEffect": { "hgvs": "ENSP00000458139.1:n.*1178A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379490" }, { "coordinates": [ { "allele": "A", "end": 2470, "referenceAllele": "A", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000566612.5:c.*752A=" ], "proteinEffect": { "hgvs": "ENSP00000454782.1:n.*752A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS379559" }, { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "A", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000611625.4:c.2575A=" ], "proteinEffect": { "hgvs": "ENSP00000481063.1:p.Ser859=" }, "referenceSequence": "http://reg.genome.network/refseq/RS400932" }, { "coordinates": [ { "allele": "A", "end": 1977, "endIntronDirection": "-", "endIntronOffset": 828, "referenceAllele": "A", "start": 1977, "startIntronDirection": "-", "startIntronOffset": 829 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000612417.4:c.1854-829A=" ], "proteinEffect": { "hgvs": "ENSP00000478360.1:n.1854-829A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS401297" }, { "coordinates": [ { "allele": "A", "end": 1972, "endIntronDirection": "-", "endIntronOffset": 840, "referenceAllele": "A", "start": 1972, "startIntronDirection": "-", "startIntronOffset": 841 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "ENST00000621016.4:c.1866-841A=" ], "proteinEffect": { "hgvs": "ENSP00000480664.1:n.1866-841A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405076" }, { "@id": "http://reg.genome.network/allele/PA2829527440", "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "A", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.3:c.2512A=", "LRG_301t1:c.2512A=" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Ser838=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029525" }, { "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "A", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523488.1:c.1777A=" ], "proteinEffect": { "hgvs": "XP_011521790.1:p.Ser593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090625" }, { "coordinates": [ { "allele": "A", "end": 2789, "referenceAllele": "A", "start": 2788 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "XM_011523489.1:c.1777A=" ], "proteinEffect": { "hgvs": "XP_011521791.1:p.Ser593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090626" }, { "@id": "http://reg.genome.network/allele/PA2826963396", "coordinates": [ { "allele": "A", "end": 2455, "referenceAllele": "A", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.1:c.2329A=" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Ser777=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512453" }, { "@id": "http://reg.genome.network/allele/PA2826965260", "coordinates": [ { "allele": "A", "end": 2705, "referenceAllele": "A", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.1:c.964A=" ], "proteinEffect": { "hgvs": "NP_001304114.1:p.Ser322=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512454" }, { "@id": "http://reg.genome.network/allele/PA2826966560", "coordinates": [ { "allele": "A", "end": 2492, "referenceAllele": "A", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.1:c.547A=" ], "proteinEffect": { "hgvs": "NP_001304115.1:p.Ser183=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512455" }, { "@id": "http://reg.genome.network/allele/PA2829527440", "coordinates": [ { "allele": "A", "end": 2638, "referenceAllele": "A", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.4:c.2512A=" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Ser838=" }, "referenceSequence": "http://reg.genome.network/refseq/RS525201" }, { "@id": "http://reg.genome.network/allele/PA2829527440", "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "A", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_004360.5:c.2512A=" ], "proteinEffect": { "hgvs": "NP_004351.1:p.Ser838=" }, "referenceSequence": "http://reg.genome.network/refseq/RS666445", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261769.10:c.2512A=" }, "RefSeq": { "hgvs": "NM_004360.5:c.2512A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261769.4:p.Ser838=" }, "RefSeq": { "hgvs": "NP_004351.1:p.Ser838=" } } } }, { "@id": "http://reg.genome.network/allele/PA2826963396", "coordinates": [ { "allele": "A", "end": 2453, "referenceAllele": "A", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317184.2:c.2329A=" ], "proteinEffect": { "hgvs": "NP_001304113.1:p.Ser777=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684261" }, { "@id": "http://reg.genome.network/allele/PA2826965260", "coordinates": [ { "allele": "A", "end": 2703, "referenceAllele": "A", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317185.2:c.964A=" ], "proteinEffect": { "hgvs": "NP_001304114.1:p.Ser322=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684262" }, { "@id": "http://reg.genome.network/allele/PA2826966560", "coordinates": [ { "allele": "A", "end": 2490, "referenceAllele": "A", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN001748", "geneNCBI_id": 999, "geneSymbol": "CDH1", "hgvs": [ "NM_001317186.2:c.547A=" ], "proteinEffect": { "hgvs": "NP_001304115.1:p.Ser183=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684263" } ], "type": "nucleotide" }