{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3243796642", "communityStandardTitle": [ "NM_000484.4(APP):c.2177A= (p.Lys726=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2517002158", "rs": 2517002158 } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 25891756, "referenceAllele": "T", "start": 25891755 } ], "hgvs": [ "NC_000021.9:g.25891756T=", "CM000683.2:g.25891756T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 27264068, "referenceAllele": "T", "start": 27264067 } ], "hgvs": [ "NC_000021.8:g.27264068T=", "CM000683.1:g.27264068T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000045" }, { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 26185939, "referenceAllele": "T", "start": 26185938 } ], "hgvs": [ "NC_000021.7:g.26185939T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000021" }, { "coordinates": [ { "allele": "A", "end": 284065, "referenceAllele": "A", "start": 284064 } ], "hgvs": [ "NG_007376.1:g.284065A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000553" }, { "coordinates": [ { "allele": "A", "end": 284373, "referenceAllele": "A", "start": 284372 } ], "hgvs": [ "NG_007376.2:g.284373A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS673480" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2144, "referenceAllele": "A", "start": 2143 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000707132.1:n.2144A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS913340" }, { "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "A", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000707133.1:n.574A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS913341" }, { "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000707134.1:n.843A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS913342" }, { "coordinates": [ { "allele": "A", "end": 2327, "referenceAllele": "A", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000346798.8:c.2177A=" ], "proteinEffect": { "hgvs": "ENSP00000284981.4:p.Lys726=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748321", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000346798.8:c.2177A=" }, "RefSeq": { "hgvs": "NM_000484.4:c.2177A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000284981.4:p.Lys726=" }, "RefSeq": { "hgvs": "NP_000475.1:p.Lys726=" } } } }, { "coordinates": [ { "allele": "A", "end": 2211, "referenceAllele": "A", "start": 2210 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000346798.7:c.2177A=" ], "proteinEffect": { "hgvs": "ENSP00000284981.4:p.Lys726=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262297" }, { "coordinates": [ { "allele": "A", "end": 2099, "referenceAllele": "A", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000348990.9:c.1952A=" ], "proteinEffect": { "hgvs": "ENSP00000345463.5:p.Lys651=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262536" }, { "coordinates": [ { "allele": "A", "end": 1911, "referenceAllele": "A", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000354192.7:c.1784A=" ], "proteinEffect": { "hgvs": "ENSP00000346129.3:p.Lys595=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263039" }, { "coordinates": [ { "allele": "A", "end": 2287, "referenceAllele": "A", "start": 2286 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000357903.7:c.2120A=" ], "proteinEffect": { "hgvs": "ENSP00000350578.3:p.Lys707=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264273" }, { "coordinates": [ { "allele": "A", "end": 2170, "referenceAllele": "A", "start": 2169 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000358918.7:c.2123A=" ], "proteinEffect": { "hgvs": "ENSP00000351796.3:p.Lys708=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264621" }, { "coordinates": [ { "allele": "A", "end": 2039, "referenceAllele": "A", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000359726.7:c.1847A=" ], "proteinEffect": { "hgvs": "ENSP00000352760.4:p.Lys616=" }, "referenceSequence": "http://reg.genome.network/refseq/RS264885" }, { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "A", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000439274.6:c.2009A=" ], "proteinEffect": { "hgvs": "ENSP00000398879.2:p.Lys670=" }, "referenceSequence": "http://reg.genome.network/refseq/RS295350" }, { "coordinates": [ { "allele": "A", "end": 2371, "referenceAllele": "A", "start": 2370 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000440126.7:c.2105A=" ], "proteinEffect": { "hgvs": "ENSP00000387483.2:p.Lys702=" }, "referenceSequence": "http://reg.genome.network/refseq/RS295743" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "A", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "ENST00000464867.1:n.524A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS308592" }, { "@id": "http://reg.genome.network/allele/PA3088543204", "coordinates": [ { "allele": "A", "end": 2377, "referenceAllele": "A", "start": 2376 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_000484.3:c.2177A=" ], "proteinEffect": { "hgvs": "NP_000475.1:p.Lys726=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006538" }, { "coordinates": [ { "allele": "A", "end": 2301, "referenceAllele": "A", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136016.3:c.2105A=" ], "proteinEffect": { "hgvs": "NP_001129488.1:p.Lys702=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012562" }, { "coordinates": [ { "allele": "A", "end": 1984, "referenceAllele": "A", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136129.2:c.1784A=" ], "proteinEffect": { "hgvs": "NP_001129601.1:p.Lys595=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012610" }, { "coordinates": [ { "allele": "A", "end": 2209, "referenceAllele": "A", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136130.2:c.2009A=" ], "proteinEffect": { "hgvs": "NP_001129602.1:p.Lys670=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012611" }, { "coordinates": [ { "allele": "A", "end": 2039, "referenceAllele": "A", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136131.2:c.1847A=" ], "proteinEffect": { "hgvs": "NP_001129603.1:p.Lys616=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012612" }, { "coordinates": [ { "allele": "A", "end": 2323, "referenceAllele": "A", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001204301.1:c.2123A=" ], "proteinEffect": { "hgvs": "NP_001191230.1:p.Lys708=" }, "referenceSequence": "http://reg.genome.network/refseq/RS017606" }, { "coordinates": [ { "allele": "A", "end": 2266, "referenceAllele": "A", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001204302.1:c.2066A=" ], "proteinEffect": { "hgvs": "NP_001191231.1:p.Lys689=" }, "referenceSequence": "http://reg.genome.network/refseq/RS017607" }, { "coordinates": [ { "allele": "A", "end": 2098, "referenceAllele": "A", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001204303.1:c.1898A=" ], "proteinEffect": { "hgvs": "NP_001191232.1:p.Lys633=" }, "referenceSequence": "http://reg.genome.network/refseq/RS017608" }, { "coordinates": [ { "allele": "A", "end": 2320, "referenceAllele": "A", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_201413.2:c.2120A=" ], "proteinEffect": { "hgvs": "NP_958816.1:p.Lys707=" }, "referenceSequence": "http://reg.genome.network/refseq/RS045009" }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "A", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_201414.2:c.1952A=" ], "proteinEffect": { "hgvs": "NP_958817.1:p.Lys651=" }, "referenceSequence": "http://reg.genome.network/refseq/RS045010" }, { "@id": "http://reg.genome.network/allele/PA3088543204", "coordinates": [ { "allele": "A", "end": 2327, "referenceAllele": "A", "start": 2326 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_000484.4:c.2177A=" ], "proteinEffect": { "hgvs": "NP_000475.1:p.Lys726=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662458", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000346798.8:c.2177A=" }, "RefSeq": { "hgvs": "NM_000484.4:c.2177A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000284981.4:p.Lys726=" }, "RefSeq": { "hgvs": "NP_000475.1:p.Lys726=" } } } }, { "coordinates": [ { "allele": "A", "end": 1934, "referenceAllele": "A", "start": 1933 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136129.3:c.1784A=" ], "proteinEffect": { "hgvs": "NP_001129601.1:p.Lys595=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677401" }, { "coordinates": [ { "allele": "A", "end": 2159, "referenceAllele": "A", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136130.3:c.2009A=" ], "proteinEffect": { "hgvs": "NP_001129602.1:p.Lys670=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677402" }, { "coordinates": [ { "allele": "A", "end": 2273, "referenceAllele": "A", "start": 2272 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001204301.2:c.2123A=" ], "proteinEffect": { "hgvs": "NP_001191230.1:p.Lys708=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679828" }, { "coordinates": [ { "allele": "A", "end": 2216, "referenceAllele": "A", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001204302.2:c.2066A=" ], "proteinEffect": { "hgvs": "NP_001191231.1:p.Lys689=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679829" }, { "coordinates": [ { "allele": "A", "end": 2048, "referenceAllele": "A", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001204303.2:c.1898A=" ], "proteinEffect": { "hgvs": "NP_001191232.1:p.Lys633=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679830" }, { "coordinates": [ { "allele": "A", "end": 2270, "referenceAllele": "A", "start": 2269 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_201413.3:c.2120A=" ], "proteinEffect": { "hgvs": "NP_958816.1:p.Lys707=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701541" }, { "coordinates": [ { "allele": "A", "end": 2102, "referenceAllele": "A", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_201414.3:c.1952A=" ], "proteinEffect": { "hgvs": "NP_958817.1:p.Lys651=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701542" }, { "coordinates": [ { "allele": "A", "end": 2039, "referenceAllele": "A", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001136131.3:c.1847A=" ], "proteinEffect": { "hgvs": "NP_001129603.1:p.Lys616=" }, "referenceSequence": "http://reg.genome.network/refseq/RS712494" }, { "coordinates": [ { "allele": "A", "end": 2159, "referenceAllele": "A", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN000620", "geneNCBI_id": 351, "geneSymbol": "APP", "hgvs": [ "NM_001385253.1:c.2009A=" ], "proteinEffect": { "hgvs": "NP_001372182.1:p.Lys670=" }, "referenceSequence": "http://reg.genome.network/refseq/RS723592" } ], "type": "nucleotide" }