{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16024886", "communityStandardTitle": [ "NM_000038.6(APC):c.1638T>A (p.Ser546Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112164564T>A?assembly=hg19", "id": "chr5:g.112164564T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112828867T>A?assembly=hg38", "id": "chr5:g.112828867T>A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112828867, "referenceAllele": "T", "start": 112828866 } ], "hgvs": [ "NC_000005.10:g.112828867T>A", "CM000667.2:g.112828867T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112164564, "referenceAllele": "T", "start": 112164563 } ], "hgvs": [ "NC_000005.9:g.112164564T>A", "CM000667.1:g.112164564T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112192463, "referenceAllele": "T", "start": 112192462 } ], "hgvs": [ "NC_000005.8:g.112192463T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 141347, "referenceAllele": "T", "start": 141346 } ], "hgvs": [ "NG_008481.4:g.141347T>A", "LRG_130:g.141347T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1408, "endIntronDirection": "-", "endIntronOffset": 6083, "referenceAllele": "T", "start": 1408, "startIntronDirection": "-", "startIntronOffset": 6084 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.1409-6084T>A" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.1409-6084T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "A", "end": 1748, "referenceAllele": "T", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.1692T>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Ser564Arg", "hgvsWellDefined": "ENSP00000473355.2:p.Ser564Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "T", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505084.2:n.1694T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS914184" }, { "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "T", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*1644T>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*1644T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 1780, "referenceAllele": "T", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.1584T>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Ser528Arg", "hgvsWellDefined": "ENSP00000423224.2:p.Ser528Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "T", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.1638T>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Ser546Arg", "hgvsWellDefined": "ENSP00000426541.2:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 1989, "referenceAllele": "T", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.1638T>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Ser546Arg", "hgvsWellDefined": "ENSP00000423828.3:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "T", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.1638T>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser546Arg", "hgvsWellDefined": "ENSP00000257430.4:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1638T>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.1638T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser546Arg" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser546Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "T", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.1638T>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser546Arg", "hgvsWellDefined": "ENSP00000257430.4:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 96, "endIntronDirection": "-", "endIntronOffset": 6083, "referenceAllele": "T", "start": 96, "startIntronDirection": "-", "startIntronOffset": 6084 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.97-6084T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.2:c.327T>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.1:p.Ser109Arg", "hgvsWellDefined": "ENSP00000473355.1:p.Ser109Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS246638" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505084.1:n.125T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336965" }, { "coordinates": [ { "allele": "A", "end": 1780, "referenceAllele": "T", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.1584T>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Ser528Arg", "hgvsWellDefined": "ENSP00000423224.1:p.Ser528Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "T", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.1638T>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Ser546Arg", "hgvsWellDefined": "ENSP00000427089.2:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*960T>A" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*960T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "A", "end": 1785, "referenceAllele": "T", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.1638T>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Ser546Arg", "hgvsWellDefined": "ENSP00000423828.2:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "hgvs": [ "ENST00000520401.1:c.125T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "coordinates": [ { "allele": "A", "end": 1723, "referenceAllele": "T", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.1638T>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser546Arg", "hgvsWellDefined": "NP_000029.2:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "coordinates": [ { "allele": "A", "end": 1831, "referenceAllele": "T", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.1638T>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser546Arg", "hgvsWellDefined": "NP_001120982.1:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "coordinates": [ { "allele": "A", "end": 1797, "referenceAllele": "T", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.1584T>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser528Arg", "hgvsWellDefined": "NP_001120983.2:p.Ser528Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "coordinates": [ { "allele": "A", "end": 2034, "referenceAllele": "T", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.1638T>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser546Arg", "hgvsWellDefined": "NP_001341824.1:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "T", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.1692T>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser564Arg", "hgvsWellDefined": "NP_001341825.1:p.Ser564Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "T", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.1668T>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser556Arg", "hgvsWellDefined": "NP_001341826.1:p.Ser556Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "T", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.1563T>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser521Arg", "hgvsWellDefined": "NP_001341827.1:p.Ser521Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "coordinates": [ { "allele": "A", "end": 1639, "referenceAllele": "T", "start": 1638 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.1554T>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser518Arg", "hgvsWellDefined": "NP_001341828.1:p.Ser518Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "coordinates": [ { "allele": "A", "end": 1624, "referenceAllele": "T", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.1515T>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser505Arg", "hgvsWellDefined": "NP_001341829.1:p.Ser505Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "coordinates": [ { "allele": "A", "end": 1570, "referenceAllele": "T", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.1461T>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser487Arg", "hgvsWellDefined": "NP_001341830.1:p.Ser487Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "coordinates": [ { "allele": "A", "end": 1578, "referenceAllele": "T", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.1365T>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser455Arg", "hgvsWellDefined": "NP_001341831.1:p.Ser455Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "coordinates": [ { "allele": "A", "end": 1420, "referenceAllele": "T", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.1335T>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser445Arg", "hgvsWellDefined": "NP_001341832.1:p.Ser445Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "T", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.1260T>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser420Arg", "hgvsWellDefined": "NP_001341833.1:p.Ser420Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "T", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.1158T>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser386Arg", "hgvsWellDefined": "NP_001341834.1:p.Ser386Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "coordinates": [ { "allele": "A", "end": 1909, "referenceAllele": "T", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.789T>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser263Arg", "hgvsWellDefined": "NP_001341835.1:p.Ser263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "T", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.1638T>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser546Arg", "hgvsWellDefined": "NP_000029.2:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1638T>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.1638T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser546Arg" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser546Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1805, "referenceAllele": "T", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.1638T>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser546Arg", "hgvsWellDefined": "NP_001120982.1:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "coordinates": [ { "allele": "A", "end": 1804, "referenceAllele": "T", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.1584T>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser528Arg", "hgvsWellDefined": "NP_001120983.2:p.Ser528Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "coordinates": [ { "allele": "A", "end": 2041, "referenceAllele": "T", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.1638T>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser546Arg", "hgvsWellDefined": "NP_001341824.1:p.Ser546Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "coordinates": [ { "allele": "A", "end": 1751, "referenceAllele": "T", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.1692T>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser564Arg", "hgvsWellDefined": "NP_001341825.1:p.Ser564Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "coordinates": [ { "allele": "A", "end": 1888, "referenceAllele": "T", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.1668T>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser556Arg", "hgvsWellDefined": "NP_001341826.1:p.Ser556Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "T", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.1563T>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser521Arg", "hgvsWellDefined": "NP_001341827.1:p.Ser521Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "T", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.1554T>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser518Arg", "hgvsWellDefined": "NP_001341828.1:p.Ser518Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "T", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.1515T>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser505Arg", "hgvsWellDefined": "NP_001341829.1:p.Ser505Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "T", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.1461T>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser487Arg", "hgvsWellDefined": "NP_001341830.1:p.Ser487Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "T", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.1365T>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser455Arg", "hgvsWellDefined": "NP_001341831.1:p.Ser455Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "coordinates": [ { "allele": "A", "end": 1394, "referenceAllele": "T", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.1335T>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser445Arg", "hgvsWellDefined": "NP_001341832.1:p.Ser445Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "T", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.1260T>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser420Arg", "hgvsWellDefined": "NP_001341833.1:p.Ser420Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "T", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.1158T>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser386Arg", "hgvsWellDefined": "NP_001341834.1:p.Ser386Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.789T>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser263Arg", "hgvsWellDefined": "NP_001341835.1:p.Ser263Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }