{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10578343", "communityStandardTitle": [ "NM_000038.6(APC):c.2672T>C (p.Met891Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233063[alleleid]", "alleleId": 233063, "preferredName": "NM_000038.6(APC):c.2672T>C (p.Met891Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232811", "RCV": [ "RCV000220564", "RCV002515681", "RCV003743663", "RCV003998003", "RCV003477749" ], "variationId": 232811 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112173963T>C?assembly=hg19", "id": "chr5:g.112173963T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112838266T>C?assembly=hg38", "id": "chr5:g.112838266T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876660004", "rs": 876660004 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112173963-T-C?dataset=gnomad_r2_1", "id": "5-112173963-T-C", "variant": "5:112173963 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112838266-T-C?dataset=gnomad_r3", "id": "5-112838266-T-C", "variant": "5:112838266 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112838266-T-C?dataset=gnomad_r4", "id": "5-112838266-T-C", "variant": "5:112838266 T / C" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 112838266, "referenceAllele": "T", "start": 112838265 } ], "hgvs": [ "NC_000005.10:g.112838266T>C", "CM000667.2:g.112838266T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 112173963, "referenceAllele": "T", "start": 112173962 } ], "hgvs": [ "NC_000005.9:g.112173963T>C", "CM000667.1:g.112173963T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 112201862, "referenceAllele": "T", "start": 112201861 } ], "hgvs": [ "NC_000005.8:g.112201862T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "C", "end": 150746, "referenceAllele": "T", "start": 150745 } ], "hgvs": [ "NG_008481.4:g.150746T>C", "LRG_130:g.150746T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2337, "referenceAllele": "T", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.2337T>C" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.2337T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "C", "end": 2782, "referenceAllele": "T", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.2726T>C" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Met909Thr", "hgvsWellDefined": "ENSP00000473355.2:p.Met909Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "C", "end": 3052, "referenceAllele": "T", "start": 3051 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*2678T>C" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*2678T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "C", "end": 2814, "referenceAllele": "T", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.2618T>C" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Met873Thr", "hgvsWellDefined": "ENSP00000423224.2:p.Met873Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "C", "end": 2822, "referenceAllele": "T", "start": 2821 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.2672T>C" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Met891Thr", "hgvsWellDefined": "ENSP00000426541.2:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "C", "end": 3023, "referenceAllele": "T", "start": 3022 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.2672T>C" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Met891Thr", "hgvsWellDefined": "ENSP00000423828.3:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "C", "end": 2731, "referenceAllele": "T", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.2672T>C" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Met891Thr", "hgvsWellDefined": "ENSP00000257430.4:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.2672T>C" }, "RefSeq": { "hgvs": "NM_000038.6:c.2672T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Met891Thr" }, "RefSeq": { "hgvs": "NP_000029.2:p.Met891Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 2728, "referenceAllele": "T", "start": 2727 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.2672T>C" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Met891Thr", "hgvsWellDefined": "ENSP00000257430.4:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "C", "end": 1025, "referenceAllele": "T", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.1025T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "C", "end": 2814, "referenceAllele": "T", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.2618T>C" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Met873Thr", "hgvsWellDefined": "ENSP00000423224.1:p.Met873Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "C", "end": 2829, "referenceAllele": "T", "start": 2828 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.2672T>C" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Met891Thr", "hgvsWellDefined": "ENSP00000427089.2:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "C", "end": 2917, "referenceAllele": "T", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*1994T>C" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*1994T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "C", "end": 2819, "referenceAllele": "T", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.2672T>C" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Met891Thr", "hgvsWellDefined": "ENSP00000423828.2:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "C", "end": 230, "endIntronDirection": "+", "endIntronOffset": 9294, "referenceAllele": "T", "start": 230, "startIntronDirection": "+", "startIntronOffset": 9293 } ], "hgvs": [ "ENST00000520401.1:c.230+9294T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA16039893", "coordinates": [ { "allele": "C", "end": 2757, "referenceAllele": "T", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.2672T>C" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Met891Thr", "hgvsWellDefined": "NP_000029.2:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA645399044", "coordinates": [ { "allele": "C", "end": 2865, "referenceAllele": "T", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.2672T>C" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Met891Thr", "hgvsWellDefined": "NP_001120982.1:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA2825639365", "coordinates": [ { "allele": "C", "end": 2831, "referenceAllele": "T", "start": 2830 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.2618T>C" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Met873Thr", "hgvsWellDefined": "NP_001120983.2:p.Met873Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827942213", "coordinates": [ { "allele": "C", "end": 3068, "referenceAllele": "T", "start": 3067 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.2672T>C" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Met891Thr", "hgvsWellDefined": "NP_001341824.1:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916039950", "coordinates": [ { "allele": "C", "end": 2811, "referenceAllele": "T", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.2726T>C" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Met909Thr", "hgvsWellDefined": "NP_001341825.1:p.Met909Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827956904", "coordinates": [ { "allele": "C", "end": 2915, "referenceAllele": "T", "start": 2914 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.2702T>C" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Met901Thr", "hgvsWellDefined": "NP_001341826.1:p.Met901Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827966043", "coordinates": [ { "allele": "C", "end": 2712, "referenceAllele": "T", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.2597T>C" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Met866Thr", "hgvsWellDefined": "NP_001341827.1:p.Met866Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827975201", "coordinates": [ { "allele": "C", "end": 2673, "referenceAllele": "T", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.2588T>C" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Met863Thr", "hgvsWellDefined": "NP_001341828.1:p.Met863Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827984301", "coordinates": [ { "allele": "C", "end": 2658, "referenceAllele": "T", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.2549T>C" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Met850Thr", "hgvsWellDefined": "NP_001341829.1:p.Met850Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827993377", "coordinates": [ { "allele": "C", "end": 2604, "referenceAllele": "T", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.2495T>C" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Met832Thr", "hgvsWellDefined": "NP_001341830.1:p.Met832Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828007096", "coordinates": [ { "allele": "C", "end": 2612, "referenceAllele": "T", "start": 2611 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.2399T>C" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Met800Thr", "hgvsWellDefined": "NP_001341831.1:p.Met800Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828018172", "coordinates": [ { "allele": "C", "end": 2454, "referenceAllele": "T", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.2369T>C" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Met790Thr", "hgvsWellDefined": "NP_001341832.1:p.Met790Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828035736", "coordinates": [ { "allele": "C", "end": 2409, "referenceAllele": "T", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.2294T>C" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Met765Thr", "hgvsWellDefined": "NP_001341833.1:p.Met765Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828054887", "coordinates": [ { "allele": "C", "end": 2301, "referenceAllele": "T", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.2192T>C" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Met731Thr", "hgvsWellDefined": "NP_001341834.1:p.Met731Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828018095", "coordinates": [ { "allele": "C", "end": 2943, "referenceAllele": "T", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.1823T>C" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Met608Thr", "hgvsWellDefined": "NP_001341835.1:p.Met608Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA16039893", "coordinates": [ { "allele": "C", "end": 2731, "referenceAllele": "T", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.2672T>C" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Met891Thr", "hgvsWellDefined": "NP_000029.2:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.2672T>C" }, "RefSeq": { "hgvs": "NM_000038.6:c.2672T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Met891Thr" }, "RefSeq": { "hgvs": "NP_000029.2:p.Met891Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA645399044", "coordinates": [ { "allele": "C", "end": 2839, "referenceAllele": "T", "start": 2838 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.2672T>C" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Met891Thr", "hgvsWellDefined": "NP_001120982.1:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA2825639365", "coordinates": [ { "allele": "C", "end": 2838, "referenceAllele": "T", "start": 2837 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.2618T>C" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Met873Thr", "hgvsWellDefined": "NP_001120983.2:p.Met873Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827942213", "coordinates": [ { "allele": "C", "end": 3075, "referenceAllele": "T", "start": 3074 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.2672T>C" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Met891Thr", "hgvsWellDefined": "NP_001341824.1:p.Met891Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916039950", "coordinates": [ { "allele": "C", "end": 2785, "referenceAllele": "T", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.2726T>C" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Met909Thr", "hgvsWellDefined": "NP_001341825.1:p.Met909Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827956904", "coordinates": [ { "allele": "C", "end": 2922, "referenceAllele": "T", "start": 2921 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.2702T>C" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Met901Thr", "hgvsWellDefined": "NP_001341826.1:p.Met901Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827966043", "coordinates": [ { "allele": "C", "end": 2686, "referenceAllele": "T", "start": 2685 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.2597T>C" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Met866Thr", "hgvsWellDefined": "NP_001341827.1:p.Met866Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827975201", "coordinates": [ { "allele": "C", "end": 2647, "referenceAllele": "T", "start": 2646 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.2588T>C" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Met863Thr", "hgvsWellDefined": "NP_001341828.1:p.Met863Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827984301", "coordinates": [ { "allele": "C", "end": 2632, "referenceAllele": "T", "start": 2631 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.2549T>C" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Met850Thr", "hgvsWellDefined": "NP_001341829.1:p.Met850Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827993377", "coordinates": [ { "allele": "C", "end": 2578, "referenceAllele": "T", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.2495T>C" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Met832Thr", "hgvsWellDefined": "NP_001341830.1:p.Met832Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828007096", "coordinates": [ { "allele": "C", "end": 2619, "referenceAllele": "T", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.2399T>C" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Met800Thr", "hgvsWellDefined": "NP_001341831.1:p.Met800Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828018172", "coordinates": [ { "allele": "C", "end": 2428, "referenceAllele": "T", "start": 2427 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.2369T>C" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Met790Thr", "hgvsWellDefined": "NP_001341832.1:p.Met790Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828035736", "coordinates": [ { "allele": "C", "end": 2383, "referenceAllele": "T", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.2294T>C" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Met765Thr", "hgvsWellDefined": "NP_001341833.1:p.Met765Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828054887", "coordinates": [ { "allele": "C", "end": 2275, "referenceAllele": "T", "start": 2274 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.2192T>C" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Met731Thr", "hgvsWellDefined": "NP_001341834.1:p.Met731Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828018095", "coordinates": [ { "allele": "C", "end": 2917, "referenceAllele": "T", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.1823T>C" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Met608Thr", "hgvsWellDefined": "NP_001341835.1:p.Met608Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }