{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008564", "communityStandardTitle": [ "NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151402[alleleid]", "alleleId": 151402, "preferredName": "NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141688", "RCV": [ "RCV000130302", "RCV000198440", "RCV000236652", "RCV001154640", "RCV003315888", "RCV003743588", "RCV003479014", "RCV003492599", "RCV003998054" ], "variationId": 141688 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112174916-G-A", "id": "5-112174916-G-A", "variant": "5:112174916 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112174916G>A?assembly=hg19", "id": "chr5:g.112174916G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112839219G>A?assembly=hg38", "id": "chr5:g.112839219G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201185479", "rs": 201185479 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112174916-G-A?dataset=gnomad_r2_1", "id": "5-112174916-G-A", "variant": "5:112174916 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112839219-G-A?dataset=gnomad_r3", "id": "5-112839219-G-A", "variant": "5:112839219 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112839219-G-A?dataset=gnomad_r4", "id": "5-112839219-G-A", "variant": "5:112839219 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112839219, "referenceAllele": "G", "start": 112839218 } ], "hgvs": [ "NC_000005.10:g.112839219G>A", "CM000667.2:g.112839219G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112174916, "referenceAllele": "G", "start": 112174915 } ], "hgvs": [ "NC_000005.9:g.112174916G>A", "CM000667.1:g.112174916G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112202815, "referenceAllele": "G", "start": 112202814 } ], "hgvs": [ "NC_000005.8:g.112202815G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 151699, "referenceAllele": "G", "start": 151698 } ], "hgvs": [ "NG_008481.4:g.151699G>A", "LRG_130:g.151699G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3290, "referenceAllele": "G", "start": 3289 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.3290G>A" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.3290G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "A", "end": 3735, "referenceAllele": "G", "start": 3734 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.3679G>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Glu1227Lys", "hgvsWellDefined": "ENSP00000473355.2:p.Glu1227Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 4005, "referenceAllele": "G", "start": 4004 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*3631G>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*3631G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 3767, "referenceAllele": "G", "start": 3766 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.3571G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Glu1191Lys", "hgvsWellDefined": "ENSP00000423224.2:p.Glu1191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 3775, "referenceAllele": "G", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Glu1209Lys", "hgvsWellDefined": "ENSP00000426541.2:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 3976, "referenceAllele": "G", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Glu1209Lys", "hgvsWellDefined": "ENSP00000423828.3:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 3684, "referenceAllele": "G", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Glu1209Lys", "hgvsWellDefined": "ENSP00000257430.4:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.3625G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.3625G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Glu1209Lys" }, "RefSeq": { "hgvs": "NP_000029.2:p.Glu1209Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 3681, "referenceAllele": "G", "start": 3680 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Glu1209Lys", "hgvsWellDefined": "ENSP00000257430.4:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 1978, "referenceAllele": "G", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.1978G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "A", "end": 3782, "referenceAllele": "G", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Glu1209Lys", "hgvsWellDefined": "ENSP00000427089.2:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 3870, "referenceAllele": "G", "start": 3869 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*2947G>A" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*2947G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "A", "end": 3772, "referenceAllele": "G", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.3625G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Glu1209Lys", "hgvsWellDefined": "ENSP00000423828.2:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "A", "end": 230, "endIntronDirection": "+", "endIntronOffset": 10247, "referenceAllele": "G", "start": 230, "startIntronDirection": "+", "startIntronOffset": 10246 } ], "hgvs": [ "ENST00000520401.1:c.230+10247G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA166134", "coordinates": [ { "allele": "A", "end": 3710, "referenceAllele": "G", "start": 3709 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.3625G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Glu1209Lys", "hgvsWellDefined": "NP_000029.2:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA166135", "coordinates": [ { "allele": "A", "end": 3818, "referenceAllele": "G", "start": 3817 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.3625G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Glu1209Lys", "hgvsWellDefined": "NP_001120982.1:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA166133", "coordinates": [ { "allele": "A", "end": 3784, "referenceAllele": "G", "start": 3783 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.3571G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Glu1191Lys", "hgvsWellDefined": "NP_001120983.2:p.Glu1191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827943286", "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "G", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.3625G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Glu1209Lys", "hgvsWellDefined": "NP_001341824.1:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA2827951388", "coordinates": [ { "allele": "A", "end": 3764, "referenceAllele": "G", "start": 3763 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.3679G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Glu1227Lys", "hgvsWellDefined": "NP_001341825.1:p.Glu1227Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827957975", "coordinates": [ { "allele": "A", "end": 3868, "referenceAllele": "G", "start": 3867 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.3655G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Glu1219Lys", "hgvsWellDefined": "NP_001341826.1:p.Glu1219Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827967112", "coordinates": [ { "allele": "A", "end": 3665, "referenceAllele": "G", "start": 3664 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.3550G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Glu1184Lys", "hgvsWellDefined": "NP_001341827.1:p.Glu1184Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827976283", "coordinates": [ { "allele": "A", "end": 3626, "referenceAllele": "G", "start": 3625 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.3541G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Glu1181Lys", "hgvsWellDefined": "NP_001341828.1:p.Glu1181Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827985362", "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.3502G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Glu1168Lys", "hgvsWellDefined": "NP_001341829.1:p.Glu1168Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827994427", "coordinates": [ { "allele": "A", "end": 3557, "referenceAllele": "G", "start": 3556 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.3448G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Glu1150Lys", "hgvsWellDefined": "NP_001341830.1:p.Glu1150Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828001777", "coordinates": [ { "allele": "A", "end": 3565, "referenceAllele": "G", "start": 3564 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.3352G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Glu1118Lys", "hgvsWellDefined": "NP_001341831.1:p.Glu1118Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828020200", "coordinates": [ { "allele": "A", "end": 3407, "referenceAllele": "G", "start": 3406 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.3322G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Glu1108Lys", "hgvsWellDefined": "NP_001341832.1:p.Glu1108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828037977", "coordinates": [ { "allele": "A", "end": 3362, "referenceAllele": "G", "start": 3361 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.3247G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Glu1083Lys", "hgvsWellDefined": "NP_001341833.1:p.Glu1083Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828005067", "coordinates": [ { "allele": "A", "end": 3254, "referenceAllele": "G", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.3145G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Glu1049Lys", "hgvsWellDefined": "NP_001341834.1:p.Glu1049Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA916042669", "coordinates": [ { "allele": "A", "end": 3896, "referenceAllele": "G", "start": 3895 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.2776G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Glu926Lys", "hgvsWellDefined": "NP_001341835.1:p.Glu926Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA166134", "coordinates": [ { "allele": "A", "end": 3684, "referenceAllele": "G", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.3625G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Glu1209Lys", "hgvsWellDefined": "NP_000029.2:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.3625G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.3625G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Glu1209Lys" }, "RefSeq": { "hgvs": "NP_000029.2:p.Glu1209Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA166135", "coordinates": [ { "allele": "A", "end": 3792, "referenceAllele": "G", "start": 3791 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.3625G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Glu1209Lys", "hgvsWellDefined": "NP_001120982.1:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA166133", "coordinates": [ { "allele": "A", "end": 3791, "referenceAllele": "G", "start": 3790 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.3571G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Glu1191Lys", "hgvsWellDefined": "NP_001120983.2:p.Glu1191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827943286", "coordinates": [ { "allele": "A", "end": 4028, "referenceAllele": "G", "start": 4027 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.3625G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Glu1209Lys", "hgvsWellDefined": "NP_001341824.1:p.Glu1209Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA2827951388", "coordinates": [ { "allele": "A", "end": 3738, "referenceAllele": "G", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.3679G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Glu1227Lys", "hgvsWellDefined": "NP_001341825.1:p.Glu1227Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827957975", "coordinates": [ { "allele": "A", "end": 3875, "referenceAllele": "G", "start": 3874 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.3655G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Glu1219Lys", "hgvsWellDefined": "NP_001341826.1:p.Glu1219Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827967112", "coordinates": [ { "allele": "A", "end": 3639, "referenceAllele": "G", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.3550G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Glu1184Lys", "hgvsWellDefined": "NP_001341827.1:p.Glu1184Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827976283", "coordinates": [ { "allele": "A", "end": 3600, "referenceAllele": "G", "start": 3599 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.3541G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Glu1181Lys", "hgvsWellDefined": "NP_001341828.1:p.Glu1181Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827985362", "coordinates": [ { "allele": "A", "end": 3585, "referenceAllele": "G", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.3502G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Glu1168Lys", "hgvsWellDefined": "NP_001341829.1:p.Glu1168Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827994427", "coordinates": [ { "allele": "A", "end": 3531, "referenceAllele": "G", "start": 3530 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.3448G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Glu1150Lys", "hgvsWellDefined": "NP_001341830.1:p.Glu1150Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828001777", "coordinates": [ { "allele": "A", "end": 3572, "referenceAllele": "G", "start": 3571 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.3352G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Glu1118Lys", "hgvsWellDefined": "NP_001341831.1:p.Glu1118Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828020200", "coordinates": [ { "allele": "A", "end": 3381, "referenceAllele": "G", "start": 3380 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.3322G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Glu1108Lys", "hgvsWellDefined": "NP_001341832.1:p.Glu1108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828037977", "coordinates": [ { "allele": "A", "end": 3336, "referenceAllele": "G", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.3247G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Glu1083Lys", "hgvsWellDefined": "NP_001341833.1:p.Glu1083Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828005067", "coordinates": [ { "allele": "A", "end": 3228, "referenceAllele": "G", "start": 3227 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.3145G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Glu1049Lys", "hgvsWellDefined": "NP_001341834.1:p.Glu1049Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA916042669", "coordinates": [ { "allele": "A", "end": 3870, "referenceAllele": "G", "start": 3869 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.2776G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Glu926Lys", "hgvsWellDefined": "NP_001341835.1:p.Glu926Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }