{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16024066", "communityStandardTitle": [ "NM_000038.6(APC):c.1263G>A (p.Trp421Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=33131", "active": true, "id": "COSM33131" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443646[alleleid]", "alleleId": 443646, "preferredName": "NM_000038.6(APC):c.1263G>A (p.Trp421Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449331", "RCV": [ "RCV000521866", "RCV003335445" ], "variationId": 449331 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112154992G>A?assembly=hg19", "id": "chr5:g.112154992G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112819295G>A?assembly=hg38", "id": "chr5:g.112819295G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554080106", "rs": 1554080106 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112819295, "referenceAllele": "G", "start": 112819294 } ], "hgvs": [ "NC_000005.10:g.112819295G>A", "CM000667.2:g.112819295G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112154992, "referenceAllele": "G", "start": 112154991 } ], "hgvs": [ "NC_000005.9:g.112154992G>A", "CM000667.1:g.112154992G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112182891, "referenceAllele": "G", "start": 112182890 } ], "hgvs": [ "NC_000005.8:g.112182891G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 131775, "referenceAllele": "G", "start": 131774 } ], "hgvs": [ "NG_008481.4:g.131775G>A", "LRG_130:g.131775G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:p.Trp421Ter", "hgvsWellDefined": "ENSP00000484935.2:p.Trp421_His488delinsGluTrpGlnGluAlaHisGluProGlyMetAspGlnAspLysAsnProMetProAlaProValGluHisGlnIleCysProAlaValCysValLeuMetLysLeuSerPheAspGluGluHisArgHisAlaMetAsnGluLeuGlyIleAsnProGlnLysArgIleGluCysLeuMetGluPheValSerThrLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505084.2:n.1319G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS914184" }, { "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "G", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*1269G>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*1269G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.1209G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Trp403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 1614, "referenceAllele": "G", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1263G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.1263G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Trp421Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Trp421Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.1209G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Trp403Ter", "hgvsWellDefined": "ENSP00000423224.1:p.Trp403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "A", "end": 1420, "referenceAllele": "G", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*585G>A" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*585G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "G", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Trp421Ter", "hgvsWellDefined": "ENSP00000423828.2:p.Trp421_Ala1305del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "G", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "coordinates": [ { "allele": "A", "end": 1456, "referenceAllele": "G", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.1209G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Trp403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "coordinates": [ { "allele": "A", "end": 1659, "referenceAllele": "G", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "G", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.1293G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Trp431Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.1188G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Trp396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.1179G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Trp393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.1086G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.1086G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "G", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.990G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Trp330Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.960G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Trp320Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.885G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Trp295Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.783G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Trp261Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.414G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Trp138Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1263G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.1263G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Trp421Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Trp421Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "G", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.1209G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Trp403Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.1263G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Trp421Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "coordinates": [ { "allele": "A", "end": 1513, "referenceAllele": "G", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.1293G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Trp431Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "G", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.1188G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Trp396Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "coordinates": [ { "allele": "A", "end": 1238, "referenceAllele": "G", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.1179G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Trp393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "G", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.1086G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "G", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.1086G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.990G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Trp330Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "G", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.960G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Trp320Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.885G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Trp295Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.783G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Trp261Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "coordinates": [ { "allele": "A", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.414G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Trp138Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }