{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10578313", "communityStandardTitle": [ "NM_000038.6(APC):c.1333C>G (p.Gln445Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233022[alleleid]", "alleleId": 233022, "preferredName": "NM_000038.6(APC):c.1333C>G (p.Gln445Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/230838", "RCV": [ "RCV000217057", "RCV000585258", "RCV002494587", "RCV003475011" ], "variationId": 230838 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112157613C>G?assembly=hg19", "id": "chr5:g.112157613C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112821916C>G?assembly=hg38", "id": "chr5:g.112821916C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876658802", "rs": 876658802 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112821916, "referenceAllele": "C", "start": 112821915 } ], "hgvs": [ "NC_000005.10:g.112821916C>G", "CM000667.2:g.112821916C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112157613, "referenceAllele": "C", "start": 112157612 } ], "hgvs": [ "NC_000005.9:g.112157613C>G", "CM000667.1:g.112157613C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 112185512, "referenceAllele": "C", "start": 112185511 } ], "hgvs": [ "NC_000005.8:g.112185512C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 134396, "referenceAllele": "C", "start": 134395 } ], "hgvs": [ "NG_008481.4:g.134396C>G", "LRG_130:g.134396C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:p.Gln445Glu", "hgvsWellDefined": "ENSP00000484935.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "G", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Gln445Glu", "hgvsWellDefined": "ENSP00000473355.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "G", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505084.2:n.1389C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS914184" }, { "coordinates": [ { "allele": "G", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*1339C>G" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*1339C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "G", "end": 1475, "referenceAllele": "C", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.1279C>G" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Gln427Glu", "hgvsWellDefined": "ENSP00000423224.2:p.Gln427Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "G", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Gln445Glu", "hgvsWellDefined": "ENSP00000426541.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "G", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Gln445Glu", "hgvsWellDefined": "ENSP00000423828.3:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "G", "end": 1392, "referenceAllele": "C", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Gln445Glu", "hgvsWellDefined": "ENSP00000257430.4:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1333C>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.1333C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Gln445Glu" }, "RefSeq": { "hgvs": "NP_000029.2:p.Gln445Glu" } } } }, { "coordinates": [ { "allele": "G", "end": 1389, "referenceAllele": "C", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Gln445Glu", "hgvsWellDefined": "ENSP00000257430.4:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "G", "end": 21, "referenceAllele": "C", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.21C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "G", "end": 1475, "referenceAllele": "C", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.1279C>G" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Gln427Glu", "hgvsWellDefined": "ENSP00000423224.1:p.Gln427Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "G", "end": 1490, "referenceAllele": "C", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Gln445Glu", "hgvsWellDefined": "ENSP00000427089.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "G", "end": 1578, "referenceAllele": "C", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*655C>G" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*655C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "G", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.1333C>G" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Gln445Glu", "hgvsWellDefined": "ENSP00000423828.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "@id": "http://reg.genome.network/allele/PA16039837", "coordinates": [ { "allele": "G", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Gln445Glu", "hgvsWellDefined": "NP_000029.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA645398876", "coordinates": [ { "allele": "G", "end": 1526, "referenceAllele": "C", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Gln445Glu", "hgvsWellDefined": "NP_001120982.1:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA2825638083", "coordinates": [ { "allele": "G", "end": 1492, "referenceAllele": "C", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.1279C>G" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Gln427Glu", "hgvsWellDefined": "NP_001120983.2:p.Gln427Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827940851", "coordinates": [ { "allele": "G", "end": 1729, "referenceAllele": "C", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Gln445Glu", "hgvsWellDefined": "NP_001341824.1:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA2827949975", "coordinates": [ { "allele": "G", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Gln445Glu", "hgvsWellDefined": "NP_001341825.1:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA916041955", "coordinates": [ { "allele": "G", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.1363C>G" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Gln455Glu", "hgvsWellDefined": "NP_001341826.1:p.Gln455Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827964681", "coordinates": [ { "allele": "G", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.1258C>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Gln420Glu", "hgvsWellDefined": "NP_001341827.1:p.Gln420Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827973839", "coordinates": [ { "allele": "G", "end": 1334, "referenceAllele": "C", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.1249C>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Gln417Glu", "hgvsWellDefined": "NP_001341828.1:p.Gln417Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827982938", "coordinates": [ { "allele": "G", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.1156C>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Gln386Glu", "hgvsWellDefined": "NP_001341829.1:p.Gln386Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827992014", "coordinates": [ { "allele": "G", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.1156C>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Gln386Glu", "hgvsWellDefined": "NP_001341830.1:p.Gln386Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828000288", "coordinates": [ { "allele": "G", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.1060C>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Gln354Glu", "hgvsWellDefined": "NP_001341831.1:p.Gln354Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828015460", "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.1030C>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Gln344Glu", "hgvsWellDefined": "NP_001341832.1:p.Gln344Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828032425", "coordinates": [ { "allele": "G", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.955C>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Gln319Glu", "hgvsWellDefined": "NP_001341833.1:p.Gln319Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828052405", "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.853C>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Gln285Glu", "hgvsWellDefined": "NP_001341834.1:p.Gln285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828015325", "coordinates": [ { "allele": "G", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.484C>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Gln162Glu", "hgvsWellDefined": "NP_001341835.1:p.Gln162Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA16039837", "coordinates": [ { "allele": "G", "end": 1392, "referenceAllele": "C", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Gln445Glu", "hgvsWellDefined": "NP_000029.2:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1333C>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.1333C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Gln445Glu" }, "RefSeq": { "hgvs": "NP_000029.2:p.Gln445Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA645398876", "coordinates": [ { "allele": "G", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Gln445Glu", "hgvsWellDefined": "NP_001120982.1:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA2825638083", "coordinates": [ { "allele": "G", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.1279C>G" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Gln427Glu", "hgvsWellDefined": "NP_001120983.2:p.Gln427Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827940851", "coordinates": [ { "allele": "G", "end": 1736, "referenceAllele": "C", "start": 1735 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Gln445Glu", "hgvsWellDefined": "NP_001341824.1:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA2827949975", "coordinates": [ { "allele": "G", "end": 1392, "referenceAllele": "C", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.1333C>G" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Gln445Glu", "hgvsWellDefined": "NP_001341825.1:p.Gln445Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA916041955", "coordinates": [ { "allele": "G", "end": 1583, "referenceAllele": "C", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.1363C>G" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Gln455Glu", "hgvsWellDefined": "NP_001341826.1:p.Gln455Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827964681", "coordinates": [ { "allele": "G", "end": 1347, "referenceAllele": "C", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.1258C>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Gln420Glu", "hgvsWellDefined": "NP_001341827.1:p.Gln420Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827973839", "coordinates": [ { "allele": "G", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.1249C>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Gln417Glu", "hgvsWellDefined": "NP_001341828.1:p.Gln417Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827982938", "coordinates": [ { "allele": "G", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.1156C>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Gln386Glu", "hgvsWellDefined": "NP_001341829.1:p.Gln386Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827992014", "coordinates": [ { "allele": "G", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.1156C>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Gln386Glu", "hgvsWellDefined": "NP_001341830.1:p.Gln386Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828000288", "coordinates": [ { "allele": "G", "end": 1280, "referenceAllele": "C", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.1060C>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Gln354Glu", "hgvsWellDefined": "NP_001341831.1:p.Gln354Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828015460", "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.1030C>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Gln344Glu", "hgvsWellDefined": "NP_001341832.1:p.Gln344Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828032425", "coordinates": [ { "allele": "G", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.955C>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Gln319Glu", "hgvsWellDefined": "NP_001341833.1:p.Gln319Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828052405", "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.853C>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Gln285Glu", "hgvsWellDefined": "NP_001341834.1:p.Gln285Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828015325", "coordinates": [ { "allele": "G", "end": 1578, "referenceAllele": "C", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.484C>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Gln162Glu", "hgvsWellDefined": "NP_001341835.1:p.Gln162Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }