{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008381", "communityStandardTitle": [ "NM_000038.6(APC):c.3426T>A (p.Asn1142Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151488[alleleid]", "alleleId": 151488, "preferredName": "NM_000038.6(APC):c.3426T>A (p.Asn1142Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141774", "RCV": [ "RCV000130415", "RCV000235983", "RCV003650395", "RCV003998057" ], "variationId": 141774 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112174717-T-A", "id": "5-112174717-T-A", "variant": "5:112174717 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112174717T>A?assembly=hg19", "id": "chr5:g.112174717T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112839020T>A?assembly=hg38", "id": "chr5:g.112839020T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375478525", "rs": 375478525 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112174717-T-A?dataset=gnomad_r2_1", "id": "5-112174717-T-A", "variant": "5:112174717 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112839020-T-A?dataset=gnomad_r3", "id": "5-112839020-T-A", "variant": "5:112839020 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112839020-T-A?dataset=gnomad_r4", "id": "5-112839020-T-A", "variant": "5:112839020 T / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112839020, "referenceAllele": "T", "start": 112839019 } ], "hgvs": [ "NC_000005.10:g.112839020T>A", "CM000667.2:g.112839020T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112174717, "referenceAllele": "T", "start": 112174716 } ], "hgvs": [ "NC_000005.9:g.112174717T>A", "CM000667.1:g.112174717T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112202616, "referenceAllele": "T", "start": 112202615 } ], "hgvs": [ "NC_000005.8:g.112202616T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 151500, "referenceAllele": "T", "start": 151499 } ], "hgvs": [ "NG_008481.4:g.151500T>A", "LRG_130:g.151500T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3091, "referenceAllele": "T", "start": 3090 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.3091T>A" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.3091T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "A", "end": 3536, "referenceAllele": "T", "start": 3535 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.3480T>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Asn1160Lys", "hgvsWellDefined": "ENSP00000473355.2:p.Asn1160Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 3806, "referenceAllele": "T", "start": 3805 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*3432T>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*3432T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 3568, "referenceAllele": "T", "start": 3567 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.3372T>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Asn1124Lys", "hgvsWellDefined": "ENSP00000423224.2:p.Asn1124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 3576, "referenceAllele": "T", "start": 3575 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.3426T>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Asn1142Lys", "hgvsWellDefined": "ENSP00000426541.2:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 3777, "referenceAllele": "T", "start": 3776 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.3426T>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Asn1142Lys", "hgvsWellDefined": "ENSP00000423828.3:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 3485, "referenceAllele": "T", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.3426T>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Asn1142Lys", "hgvsWellDefined": "ENSP00000257430.4:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.3426T>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.3426T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Asn1142Lys" }, "RefSeq": { "hgvs": "NP_000029.2:p.Asn1142Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 3482, "referenceAllele": "T", "start": 3481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.3426T>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Asn1142Lys", "hgvsWellDefined": "ENSP00000257430.4:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "T", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.1779T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "A", "end": 3568, "referenceAllele": "T", "start": 3567 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.3372T>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Asn1124Lys", "hgvsWellDefined": "ENSP00000423224.1:p.Asn1124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "A", "end": 3583, "referenceAllele": "T", "start": 3582 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.3426T>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Asn1142Lys", "hgvsWellDefined": "ENSP00000427089.2:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 3671, "referenceAllele": "T", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*2748T>A" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*2748T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "A", "end": 3573, "referenceAllele": "T", "start": 3572 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.3426T>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Asn1142Lys", "hgvsWellDefined": "ENSP00000423828.2:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "A", "end": 230, "endIntronDirection": "+", "endIntronOffset": 10048, "referenceAllele": "T", "start": 230, "startIntronDirection": "+", "startIntronOffset": 10047 } ], "hgvs": [ "ENST00000520401.1:c.230+10048T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA166384", "coordinates": [ { "allele": "A", "end": 3511, "referenceAllele": "T", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.3426T>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Asn1142Lys", "hgvsWellDefined": "NP_000029.2:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA166385", "coordinates": [ { "allele": "A", "end": 3619, "referenceAllele": "T", "start": 3618 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.3426T>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Asn1142Lys", "hgvsWellDefined": "NP_001120982.1:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA166383", "coordinates": [ { "allele": "A", "end": 3585, "referenceAllele": "T", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.3372T>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Asn1124Lys", "hgvsWellDefined": "NP_001120983.2:p.Asn1124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827943053", "coordinates": [ { "allele": "A", "end": 3822, "referenceAllele": "T", "start": 3821 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.3426T>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Asn1142Lys", "hgvsWellDefined": "NP_001341824.1:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA2827951186", "coordinates": [ { "allele": "A", "end": 3565, "referenceAllele": "T", "start": 3564 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.3480T>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Asn1160Lys", "hgvsWellDefined": "NP_001341825.1:p.Asn1160Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827957743", "coordinates": [ { "allele": "A", "end": 3669, "referenceAllele": "T", "start": 3668 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.3456T>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Asn1152Lys", "hgvsWellDefined": "NP_001341826.1:p.Asn1152Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827966879", "coordinates": [ { "allele": "A", "end": 3466, "referenceAllele": "T", "start": 3465 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.3351T>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Asn1117Lys", "hgvsWellDefined": "NP_001341827.1:p.Asn1117Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827976052", "coordinates": [ { "allele": "A", "end": 3427, "referenceAllele": "T", "start": 3426 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.3342T>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Asn1114Lys", "hgvsWellDefined": "NP_001341828.1:p.Asn1114Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827985129", "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "T", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.3303T>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Asn1101Lys", "hgvsWellDefined": "NP_001341829.1:p.Asn1101Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827994194", "coordinates": [ { "allele": "A", "end": 3358, "referenceAllele": "T", "start": 3357 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.3249T>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Asn1083Lys", "hgvsWellDefined": "NP_001341830.1:p.Asn1083Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828001638", "coordinates": [ { "allele": "A", "end": 3366, "referenceAllele": "T", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.3153T>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Asn1051Lys", "hgvsWellDefined": "NP_001341831.1:p.Asn1051Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828019859", "coordinates": [ { "allele": "A", "end": 3208, "referenceAllele": "T", "start": 3207 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.3123T>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Asn1041Lys", "hgvsWellDefined": "NP_001341832.1:p.Asn1041Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828037402", "coordinates": [ { "allele": "A", "end": 3163, "referenceAllele": "T", "start": 3162 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.3048T>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Asn1016Lys", "hgvsWellDefined": "NP_001341833.1:p.Asn1016Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA916042513", "coordinates": [ { "allele": "A", "end": 3055, "referenceAllele": "T", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.2946T>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Asn982Lys", "hgvsWellDefined": "NP_001341834.1:p.Asn982Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828019773", "coordinates": [ { "allele": "A", "end": 3697, "referenceAllele": "T", "start": 3696 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.2577T>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Asn859Lys", "hgvsWellDefined": "NP_001341835.1:p.Asn859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA166384", "coordinates": [ { "allele": "A", "end": 3485, "referenceAllele": "T", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.3426T>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Asn1142Lys", "hgvsWellDefined": "NP_000029.2:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.3426T>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.3426T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Asn1142Lys" }, "RefSeq": { "hgvs": "NP_000029.2:p.Asn1142Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA166385", "coordinates": [ { "allele": "A", "end": 3593, "referenceAllele": "T", "start": 3592 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.3426T>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Asn1142Lys", "hgvsWellDefined": "NP_001120982.1:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA166383", "coordinates": [ { "allele": "A", "end": 3592, "referenceAllele": "T", "start": 3591 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.3372T>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Asn1124Lys", "hgvsWellDefined": "NP_001120983.2:p.Asn1124Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827943053", "coordinates": [ { "allele": "A", "end": 3829, "referenceAllele": "T", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.3426T>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Asn1142Lys", "hgvsWellDefined": "NP_001341824.1:p.Asn1142Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA2827951186", "coordinates": [ { "allele": "A", "end": 3539, "referenceAllele": "T", "start": 3538 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.3480T>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Asn1160Lys", "hgvsWellDefined": "NP_001341825.1:p.Asn1160Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827957743", "coordinates": [ { "allele": "A", "end": 3676, "referenceAllele": "T", "start": 3675 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.3456T>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Asn1152Lys", "hgvsWellDefined": "NP_001341826.1:p.Asn1152Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827966879", "coordinates": [ { "allele": "A", "end": 3440, "referenceAllele": "T", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.3351T>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Asn1117Lys", "hgvsWellDefined": "NP_001341827.1:p.Asn1117Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827976052", "coordinates": [ { "allele": "A", "end": 3401, "referenceAllele": "T", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.3342T>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Asn1114Lys", "hgvsWellDefined": "NP_001341828.1:p.Asn1114Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827985129", "coordinates": [ { "allele": "A", "end": 3386, "referenceAllele": "T", "start": 3385 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.3303T>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Asn1101Lys", "hgvsWellDefined": "NP_001341829.1:p.Asn1101Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827994194", "coordinates": [ { "allele": "A", "end": 3332, "referenceAllele": "T", "start": 3331 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.3249T>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Asn1083Lys", "hgvsWellDefined": "NP_001341830.1:p.Asn1083Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828001638", "coordinates": [ { "allele": "A", "end": 3373, "referenceAllele": "T", "start": 3372 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.3153T>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Asn1051Lys", "hgvsWellDefined": "NP_001341831.1:p.Asn1051Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828019859", "coordinates": [ { "allele": "A", "end": 3182, "referenceAllele": "T", "start": 3181 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.3123T>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Asn1041Lys", "hgvsWellDefined": "NP_001341832.1:p.Asn1041Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828037402", "coordinates": [ { "allele": "A", "end": 3137, "referenceAllele": "T", "start": 3136 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.3048T>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Asn1016Lys", "hgvsWellDefined": "NP_001341833.1:p.Asn1016Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA916042513", "coordinates": [ { "allele": "A", "end": 3029, "referenceAllele": "T", "start": 3028 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.2946T>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Asn982Lys", "hgvsWellDefined": "NP_001341834.1:p.Asn982Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828019773", "coordinates": [ { "allele": "A", "end": 3671, "referenceAllele": "T", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.2577T>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Asn859Lys", "hgvsWellDefined": "NP_001341835.1:p.Asn859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }