{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007292", "communityStandardTitle": [ "NM_000038.6(APC):c.2218G>C (p.Ala740Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150670[alleleid]", "alleleId": 150670, "preferredName": "NM_000038.6(APC):c.2218G>C (p.Ala740Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140956", "RCV": [ "RCV000129237", "RCV003159100", "RCV003460891", "RCV003997489" ], "variationId": 140956 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112173509-G-C", "id": "5-112173509-G-C", "variant": "5:112173509 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112173509G>C?assembly=hg19", "id": "chr5:g.112173509G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112837812G>C?assembly=hg38", "id": "chr5:g.112837812G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587781394", "rs": 587781394 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112173509-G-C?dataset=gnomad_r2_1", "id": "5-112173509-G-C", "variant": "5:112173509 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112837812-G-C?dataset=gnomad_r3", "id": "5-112837812-G-C", "variant": "5:112837812 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112837812-G-C?dataset=gnomad_r4", "id": "5-112837812-G-C", "variant": "5:112837812 G / C" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 112837812, "referenceAllele": "G", "start": 112837811 } ], "hgvs": [ "NC_000005.10:g.112837812G>C", "CM000667.2:g.112837812G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 112173509, "referenceAllele": "G", "start": 112173508 } ], "hgvs": [ "NC_000005.9:g.112173509G>C", "CM000667.1:g.112173509G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 112201408, "referenceAllele": "G", "start": 112201407 } ], "hgvs": [ "NC_000005.8:g.112201408G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "C", "end": 150292, "referenceAllele": "G", "start": 150291 } ], "hgvs": [ "NG_008481.4:g.150292G>C", "LRG_130:g.150292G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1883, "referenceAllele": "G", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.1883G>C" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.1883G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "C", "end": 2328, "referenceAllele": "G", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.2272G>C" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Ala758Pro", "hgvsWellDefined": "ENSP00000473355.2:p.Ala758Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "C", "end": 2598, "referenceAllele": "G", "start": 2597 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*2224G>C" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*2224G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "C", "end": 2360, "referenceAllele": "G", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.2164G>C" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Ala722Pro", "hgvsWellDefined": "ENSP00000423224.2:p.Ala722Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "C", "end": 2368, "referenceAllele": "G", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.2218G>C" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Ala740Pro", "hgvsWellDefined": "ENSP00000426541.2:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "C", "end": 2569, "referenceAllele": "G", "start": 2568 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.2218G>C" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Ala740Pro", "hgvsWellDefined": "ENSP00000423828.3:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "C", "end": 2277, "referenceAllele": "G", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.2218G>C" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ala740Pro", "hgvsWellDefined": "ENSP00000257430.4:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.2218G>C" }, "RefSeq": { "hgvs": "NM_000038.6:c.2218G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ala740Pro" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ala740Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 2274, "referenceAllele": "G", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.2218G>C" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ala740Pro", "hgvsWellDefined": "ENSP00000257430.4:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "C", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.571G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "C", "end": 2360, "referenceAllele": "G", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.2164G>C" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Ala722Pro", "hgvsWellDefined": "ENSP00000423224.1:p.Ala722Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "C", "end": 2375, "referenceAllele": "G", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.2218G>C" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Ala740Pro", "hgvsWellDefined": "ENSP00000427089.2:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "C", "end": 2463, "referenceAllele": "G", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*1540G>C" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*1540G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "C", "end": 2365, "referenceAllele": "G", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.2218G>C" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Ala740Pro", "hgvsWellDefined": "ENSP00000423828.2:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "C", "end": 230, "endIntronDirection": "+", "endIntronOffset": 8840, "referenceAllele": "G", "start": 230, "startIntronDirection": "+", "startIntronOffset": 8839 } ], "hgvs": [ "ENST00000520401.1:c.230+8840G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA164027", "coordinates": [ { "allele": "C", "end": 2303, "referenceAllele": "G", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.2218G>C" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ala740Pro", "hgvsWellDefined": "NP_000029.2:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA164028", "coordinates": [ { "allele": "C", "end": 2411, "referenceAllele": "G", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.2218G>C" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ala740Pro", "hgvsWellDefined": "NP_001120982.1:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA164026", "coordinates": [ { "allele": "C", "end": 2377, "referenceAllele": "G", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.2164G>C" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ala722Pro", "hgvsWellDefined": "NP_001120983.2:p.Ala722Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827941707", "coordinates": [ { "allele": "C", "end": 2614, "referenceAllele": "G", "start": 2613 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.2218G>C" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ala740Pro", "hgvsWellDefined": "NP_001341824.1:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916039763", "coordinates": [ { "allele": "C", "end": 2357, "referenceAllele": "G", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.2272G>C" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ala758Pro", "hgvsWellDefined": "NP_001341825.1:p.Ala758Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827956397", "coordinates": [ { "allele": "C", "end": 2461, "referenceAllele": "G", "start": 2460 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.2248G>C" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ala750Pro", "hgvsWellDefined": "NP_001341826.1:p.Ala750Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827965538", "coordinates": [ { "allele": "C", "end": 2258, "referenceAllele": "G", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.2143G>C" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ala715Pro", "hgvsWellDefined": "NP_001341827.1:p.Ala715Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827974694", "coordinates": [ { "allele": "C", "end": 2219, "referenceAllele": "G", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.2134G>C" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ala712Pro", "hgvsWellDefined": "NP_001341828.1:p.Ala712Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827983795", "coordinates": [ { "allele": "C", "end": 2204, "referenceAllele": "G", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.2095G>C" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ala699Pro", "hgvsWellDefined": "NP_001341829.1:p.Ala699Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827992873", "coordinates": [ { "allele": "C", "end": 2150, "referenceAllele": "G", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.2041G>C" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ala681Pro", "hgvsWellDefined": "NP_001341830.1:p.Ala681Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828000864", "coordinates": [ { "allele": "C", "end": 2158, "referenceAllele": "G", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.1945G>C" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ala649Pro", "hgvsWellDefined": "NP_001341831.1:p.Ala649Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828017154", "coordinates": [ { "allele": "C", "end": 2000, "referenceAllele": "G", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.1915G>C" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ala639Pro", "hgvsWellDefined": "NP_001341832.1:p.Ala639Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828034548", "coordinates": [ { "allele": "C", "end": 1955, "referenceAllele": "G", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.1840G>C" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ala614Pro", "hgvsWellDefined": "NP_001341833.1:p.Ala614Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828054381", "coordinates": [ { "allele": "C", "end": 1847, "referenceAllele": "G", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.1738G>C" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ala580Pro", "hgvsWellDefined": "NP_001341834.1:p.Ala580Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828017078", "coordinates": [ { "allele": "C", "end": 2489, "referenceAllele": "G", "start": 2488 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.1369G>C" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ala457Pro", "hgvsWellDefined": "NP_001341835.1:p.Ala457Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA164027", "coordinates": [ { "allele": "C", "end": 2277, "referenceAllele": "G", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.2218G>C" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ala740Pro", "hgvsWellDefined": "NP_000029.2:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.2218G>C" }, "RefSeq": { "hgvs": "NM_000038.6:c.2218G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ala740Pro" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ala740Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA164028", "coordinates": [ { "allele": "C", "end": 2385, "referenceAllele": "G", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.2218G>C" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ala740Pro", "hgvsWellDefined": "NP_001120982.1:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA164026", "coordinates": [ { "allele": "C", "end": 2384, "referenceAllele": "G", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.2164G>C" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ala722Pro", "hgvsWellDefined": "NP_001120983.2:p.Ala722Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827941707", "coordinates": [ { "allele": "C", "end": 2621, "referenceAllele": "G", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.2218G>C" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ala740Pro", "hgvsWellDefined": "NP_001341824.1:p.Ala740Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916039763", "coordinates": [ { "allele": "C", "end": 2331, "referenceAllele": "G", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.2272G>C" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ala758Pro", "hgvsWellDefined": "NP_001341825.1:p.Ala758Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827956397", "coordinates": [ { "allele": "C", "end": 2468, "referenceAllele": "G", "start": 2467 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.2248G>C" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ala750Pro", "hgvsWellDefined": "NP_001341826.1:p.Ala750Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827965538", "coordinates": [ { "allele": "C", "end": 2232, "referenceAllele": "G", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.2143G>C" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ala715Pro", "hgvsWellDefined": "NP_001341827.1:p.Ala715Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827974694", "coordinates": [ { "allele": "C", "end": 2193, "referenceAllele": "G", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.2134G>C" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ala712Pro", "hgvsWellDefined": "NP_001341828.1:p.Ala712Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827983795", "coordinates": [ { "allele": "C", "end": 2178, "referenceAllele": "G", "start": 2177 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.2095G>C" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ala699Pro", "hgvsWellDefined": "NP_001341829.1:p.Ala699Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827992873", "coordinates": [ { "allele": "C", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.2041G>C" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ala681Pro", "hgvsWellDefined": "NP_001341830.1:p.Ala681Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828000864", "coordinates": [ { "allele": "C", "end": 2165, "referenceAllele": "G", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.1945G>C" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ala649Pro", "hgvsWellDefined": "NP_001341831.1:p.Ala649Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828017154", "coordinates": [ { "allele": "C", "end": 1974, "referenceAllele": "G", "start": 1973 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.1915G>C" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ala639Pro", "hgvsWellDefined": "NP_001341832.1:p.Ala639Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828034548", "coordinates": [ { "allele": "C", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.1840G>C" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ala614Pro", "hgvsWellDefined": "NP_001341833.1:p.Ala614Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828054381", "coordinates": [ { "allele": "C", "end": 1821, "referenceAllele": "G", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.1738G>C" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ala580Pro", "hgvsWellDefined": "NP_001341834.1:p.Ala580Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828017078", "coordinates": [ { "allele": "C", "end": 2463, "referenceAllele": "G", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.1369G>C" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ala457Pro", "hgvsWellDefined": "NP_001341835.1:p.Ala457Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }