{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA050869", "communityStandardTitle": [ "NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6475362", "active": true, "id": "COSM6475362" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212460[alleleid]", "alleleId": 212460, "preferredName": "NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216188", "RCV": [ "RCV000196318", "RCV000478701", "RCV000567493", "RCV000779724", "RCV000765792", "RCV002228917", "RCV003996983" ], "variationId": 216188 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112179753-A-G", "id": "5-112179753-A-G", "variant": "5:112179753 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112179753A>G?assembly=hg19", "id": "chr5:g.112179753A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112844056A>G?assembly=hg38", "id": "chr5:g.112844056A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/780049836", "rs": 780049836 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112179753-A-G?dataset=gnomad_r2_1", "id": "5-112179753-A-G", "variant": "5:112179753 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112844056-A-G?dataset=gnomad_r3", "id": "5-112844056-A-G", "variant": "5:112844056 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112844056-A-G?dataset=gnomad_r4", "id": "5-112844056-A-G", "variant": "5:112844056 A / G" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112844056, "referenceAllele": "A", "start": 112844055 } ], "hgvs": [ "NC_000005.10:g.112844056A>G", "CM000667.2:g.112844056A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112179753, "referenceAllele": "A", "start": 112179752 } ], "hgvs": [ "NC_000005.9:g.112179753A>G", "CM000667.1:g.112179753A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112207652, "referenceAllele": "A", "start": 112207651 } ], "hgvs": [ "NC_000005.8:g.112207652A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 156536, "referenceAllele": "A", "start": 156535 } ], "hgvs": [ "NG_008481.4:g.156536A>G", "LRG_130:g.156536A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 8572, "referenceAllele": "A", "start": 8571 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.8516A>G" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Asp2839Gly", "hgvsWellDefined": "ENSP00000473355.2:p.Asp2839Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "G", "end": 8842, "referenceAllele": "A", "start": 8841 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*8468A>G" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*8468A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "G", "end": 8604, "referenceAllele": "A", "start": 8603 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.8408A>G" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Asp2803Gly", "hgvsWellDefined": "ENSP00000423224.2:p.Asp2803Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "G", "end": 8612, "referenceAllele": "A", "start": 8611 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.8462A>G" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Asp2821Gly", "hgvsWellDefined": "ENSP00000426541.2:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "G", "end": 8813, "referenceAllele": "A", "start": 8812 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.8462A>G" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Asp2821Gly", "hgvsWellDefined": "ENSP00000423828.3:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "G", "end": 8521, "referenceAllele": "A", "start": 8520 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.8462A>G" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Asp2821Gly", "hgvsWellDefined": "ENSP00000257430.4:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.8462A>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.8462A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Asp2821Gly" }, "RefSeq": { "hgvs": "NP_000029.2:p.Asp2821Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 8518, "referenceAllele": "A", "start": 8517 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.8462A>G" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Asp2821Gly", "hgvsWellDefined": "ENSP00000257430.4:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "G", "end": 8619, "referenceAllele": "A", "start": 8618 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.8462A>G" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Asp2821Gly", "hgvsWellDefined": "ENSP00000427089.2:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "G", "end": 230, "endIntronDirection": "-", "endIntronOffset": 12592, "referenceAllele": "A", "start": 230, "startIntronDirection": "-", "startIntronOffset": 12593 } ], "hgvs": [ "ENST00000520401.1:c.231-12593A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA336330", "coordinates": [ { "allele": "G", "end": 8547, "referenceAllele": "A", "start": 8546 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.8462A>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Asp2821Gly", "hgvsWellDefined": "NP_000029.2:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA336331", "coordinates": [ { "allele": "G", "end": 8655, "referenceAllele": "A", "start": 8654 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.8462A>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Asp2821Gly", "hgvsWellDefined": "NP_001120982.1:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA336329", "coordinates": [ { "allele": "G", "end": 8621, "referenceAllele": "A", "start": 8620 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.8408A>G" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Asp2803Gly", "hgvsWellDefined": "NP_001120983.2:p.Asp2803Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827948588", "coordinates": [ { "allele": "G", "end": 8858, "referenceAllele": "A", "start": 8857 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.8462A>G" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Asp2821Gly", "hgvsWellDefined": "NP_001341824.1:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041842", "coordinates": [ { "allele": "G", "end": 8601, "referenceAllele": "A", "start": 8600 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.8516A>G" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Asp2839Gly", "hgvsWellDefined": "NP_001341825.1:p.Asp2839Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827963278", "coordinates": [ { "allele": "G", "end": 8705, "referenceAllele": "A", "start": 8704 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.8492A>G" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Asp2831Gly", "hgvsWellDefined": "NP_001341826.1:p.Asp2831Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827972414", "coordinates": [ { "allele": "G", "end": 8502, "referenceAllele": "A", "start": 8501 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.8387A>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Asp2796Gly", "hgvsWellDefined": "NP_001341827.1:p.Asp2796Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827981587", "coordinates": [ { "allele": "G", "end": 8463, "referenceAllele": "A", "start": 8462 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.8378A>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Asp2793Gly", "hgvsWellDefined": "NP_001341828.1:p.Asp2793Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827990665", "coordinates": [ { "allele": "G", "end": 8448, "referenceAllele": "A", "start": 8447 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.8339A>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Asp2780Gly", "hgvsWellDefined": "NP_001341829.1:p.Asp2780Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827999730", "coordinates": [ { "allele": "G", "end": 8394, "referenceAllele": "A", "start": 8393 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.8285A>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Asp2762Gly", "hgvsWellDefined": "NP_001341830.1:p.Asp2762Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828004627", "coordinates": [ { "allele": "G", "end": 8402, "referenceAllele": "A", "start": 8401 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.8189A>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Asp2730Gly", "hgvsWellDefined": "NP_001341831.1:p.Asp2730Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828030754", "coordinates": [ { "allele": "G", "end": 8244, "referenceAllele": "A", "start": 8243 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.8159A>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Asp2720Gly", "hgvsWellDefined": "NP_001341832.1:p.Asp2720Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828050202", "coordinates": [ { "allele": "G", "end": 8199, "referenceAllele": "A", "start": 8198 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.8084A>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Asp2695Gly", "hgvsWellDefined": "NP_001341833.1:p.Asp2695Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828014253", "coordinates": [ { "allele": "G", "end": 8091, "referenceAllele": "A", "start": 8090 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.7982A>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Asp2661Gly", "hgvsWellDefined": "NP_001341834.1:p.Asp2661Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828030573", "coordinates": [ { "allele": "G", "end": 8733, "referenceAllele": "A", "start": 8732 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.7613A>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Asp2538Gly", "hgvsWellDefined": "NP_001341835.1:p.Asp2538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA336330", "coordinates": [ { "allele": "G", "end": 8521, "referenceAllele": "A", "start": 8520 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.8462A>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Asp2821Gly", "hgvsWellDefined": "NP_000029.2:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.8462A>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.8462A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Asp2821Gly" }, "RefSeq": { "hgvs": "NP_000029.2:p.Asp2821Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA336331", "coordinates": [ { "allele": "G", "end": 8629, "referenceAllele": "A", "start": 8628 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.8462A>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Asp2821Gly", "hgvsWellDefined": "NP_001120982.1:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA336329", "coordinates": [ { "allele": "G", "end": 8628, "referenceAllele": "A", "start": 8627 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.8408A>G" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Asp2803Gly", "hgvsWellDefined": "NP_001120983.2:p.Asp2803Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827948588", "coordinates": [ { "allele": "G", "end": 8865, "referenceAllele": "A", "start": 8864 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.8462A>G" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Asp2821Gly", "hgvsWellDefined": "NP_001341824.1:p.Asp2821Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041842", "coordinates": [ { "allele": "G", "end": 8575, "referenceAllele": "A", "start": 8574 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.8516A>G" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Asp2839Gly", "hgvsWellDefined": "NP_001341825.1:p.Asp2839Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827963278", "coordinates": [ { "allele": "G", "end": 8712, "referenceAllele": "A", "start": 8711 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.8492A>G" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Asp2831Gly", "hgvsWellDefined": "NP_001341826.1:p.Asp2831Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827972414", "coordinates": [ { "allele": "G", "end": 8476, "referenceAllele": "A", "start": 8475 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.8387A>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Asp2796Gly", "hgvsWellDefined": "NP_001341827.1:p.Asp2796Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827981587", "coordinates": [ { "allele": "G", "end": 8437, "referenceAllele": "A", "start": 8436 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.8378A>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Asp2793Gly", "hgvsWellDefined": "NP_001341828.1:p.Asp2793Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827990665", "coordinates": [ { "allele": "G", "end": 8422, "referenceAllele": "A", "start": 8421 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.8339A>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Asp2780Gly", "hgvsWellDefined": "NP_001341829.1:p.Asp2780Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827999730", "coordinates": [ { "allele": "G", "end": 8368, "referenceAllele": "A", "start": 8367 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.8285A>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Asp2762Gly", "hgvsWellDefined": "NP_001341830.1:p.Asp2762Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828004627", "coordinates": [ { "allele": "G", "end": 8409, "referenceAllele": "A", "start": 8408 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.8189A>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Asp2730Gly", "hgvsWellDefined": "NP_001341831.1:p.Asp2730Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828030754", "coordinates": [ { "allele": "G", "end": 8218, "referenceAllele": "A", "start": 8217 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.8159A>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Asp2720Gly", "hgvsWellDefined": "NP_001341832.1:p.Asp2720Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828050202", "coordinates": [ { "allele": "G", "end": 8173, "referenceAllele": "A", "start": 8172 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.8084A>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Asp2695Gly", "hgvsWellDefined": "NP_001341833.1:p.Asp2695Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828014253", "coordinates": [ { "allele": "G", "end": 8065, "referenceAllele": "A", "start": 8064 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.7982A>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Asp2661Gly", "hgvsWellDefined": "NP_001341834.1:p.Asp2661Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828030573", "coordinates": [ { "allele": "G", "end": 8707, "referenceAllele": "A", "start": 8706 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.7613A>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Asp2538Gly", "hgvsWellDefined": "NP_001341835.1:p.Asp2538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }