{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2060497526", "communityStandardTitle": [ "NM_018171.5(APPL2):c.1451A= (p.Glu484=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/151164748", "rs": 151164748 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 105189780, "referenceAllele": "T", "start": 105189779 } ], "hgvs": [ "NC_000012.12:g.105189780T=", "CM000674.2:g.105189780T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 105583558, "referenceAllele": "T", "start": 105583557 } ], "hgvs": [ "NC_000012.11:g.105583558T=", "CM000674.1:g.105583558T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 104107688, "referenceAllele": "T", "start": 104107687 } ], "hgvs": [ "NC_000012.10:g.104107688T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 51451, "referenceAllele": "A", "start": 51450 } ], "hgvs": [ "NG_030419.1:g.51451A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS004942" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "A", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000258530.8:c.1451A=" ], "proteinEffect": { "hgvs": "ENSP00000258530.3:p.Glu484=" }, "referenceSequence": "http://reg.genome.network/refseq/RS741920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258530.8:c.1451A=" }, "RefSeq": { "hgvs": "NM_018171.5:c.1451A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258530.3:p.Glu484=" }, "RefSeq": { "hgvs": "NP_060641.2:p.Glu484=" } } } }, { "coordinates": [ { "allele": "A", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000258530.7:c.1451A=" ], "proteinEffect": { "hgvs": "ENSP00000258530.3:p.Glu484=" }, "referenceSequence": "http://reg.genome.network/refseq/RS250400" }, { "coordinates": [ { "allele": "A", "end": 1757, "referenceAllele": "A", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000539978.6:c.1322A=" ], "proteinEffect": { "hgvs": "ENSP00000444472.2:p.Glu441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS362158" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "A", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000547439.5:c.*736A=" ], "proteinEffect": { "hgvs": "ENSP00000449410.1:n.*736A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS366276" }, { "coordinates": [ { "allele": "A", "end": 1461, "referenceAllele": "A", "start": 1460 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000547809.5:n.1461A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS366494" }, { "coordinates": [ { "allele": "A", "end": 1540, "referenceAllele": "A", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000551662.5:c.1469A=" ], "proteinEffect": { "hgvs": "ENSP00000446917.1:p.Glu490=" }, "referenceSequence": "http://reg.genome.network/refseq/RS368793" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000552945.1:n.291A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS369542" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "A", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "ENST00000553109.1:c.95A=" ], "proteinEffect": { "hgvs": "ENSP00000446510.1:p.Glu32=" }, "referenceSequence": "http://reg.genome.network/refseq/RS369637" }, { "coordinates": [ { "allele": "A", "end": 1687, "referenceAllele": "A", "start": 1686 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_001251904.1:c.1469A=" ], "proteinEffect": { "hgvs": "NP_001238833.1:p.Glu490=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018798" }, { "coordinates": [ { "allele": "A", "end": 1712, "referenceAllele": "A", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_001251905.1:c.1322A=" ], "proteinEffect": { "hgvs": "NP_001238834.1:p.Glu441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018799" }, { "@id": "http://reg.genome.network/allele/PA3079324389", "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "A", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_018171.3:c.1451A=" ], "proteinEffect": { "hgvs": "NP_060641.2:p.Glu484=" }, "referenceSequence": "http://reg.genome.network/refseq/RS035512" }, { "coordinates": [ { "allele": "A", "end": 1606, "referenceAllele": "A", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_006719472.1:c.1469A=" ], "proteinEffect": { "hgvs": "XP_006719535.1:p.Glu490=" }, "referenceSequence": "http://reg.genome.network/refseq/RS073143" }, { "coordinates": [ { "allele": "A", "end": 3139, "referenceAllele": "A", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_011538530.1:c.1430A=" ], "proteinEffect": { "hgvs": "XP_011536832.1:p.Glu477=" }, "referenceSequence": "http://reg.genome.network/refseq/RS105485" }, { "coordinates": [ { "allele": "A", "end": 2563, "referenceAllele": "A", "start": 2562 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_011538531.1:c.1340A=" ], "proteinEffect": { "hgvs": "XP_011536833.1:p.Glu447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS105486" }, { "coordinates": [ { "allele": "A", "end": 4029, "referenceAllele": "A", "start": 4028 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_011538532.1:c.1340A=" ], "proteinEffect": { "hgvs": "XP_011536834.1:p.Glu447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS105487" }, { "coordinates": [ { "allele": "A", "end": 3139, "referenceAllele": "A", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_011538530.3:c.1430A=" ], "proteinEffect": { "hgvs": "XP_011536832.1:p.Glu477=" }, "referenceSequence": "http://reg.genome.network/refseq/RS553308" }, { "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "A", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_011538531.3:c.1340A=" ], "proteinEffect": { "hgvs": "XP_011536833.1:p.Glu447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS553309" }, { "coordinates": [ { "allele": "A", "end": 4128, "referenceAllele": "A", "start": 4127 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_011538532.3:c.1340A=" ], "proteinEffect": { "hgvs": "XP_011536834.1:p.Glu447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS553310" }, { "coordinates": [ { "allele": "A", "end": 2074, "referenceAllele": "A", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_017019551.2:c.1412A=" ], "proteinEffect": { "hgvs": "XP_016875040.1:p.Glu471=" }, "referenceSequence": "http://reg.genome.network/refseq/RS571235" }, { "coordinates": [ { "allele": "A", "end": 2599, "referenceAllele": "A", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_017019552.2:c.1322A=" ], "proteinEffect": { "hgvs": "XP_016875041.1:p.Glu441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS571236" }, { "coordinates": [ { "allele": "A", "end": 4382, "referenceAllele": "A", "start": 4381 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_017019553.2:c.1322A=" ], "proteinEffect": { "hgvs": "XP_016875042.1:p.Glu441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS571237" }, { "coordinates": [ { "allele": "A", "end": 1588, "referenceAllele": "A", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XM_017019554.1:c.1451A=" ], "proteinEffect": { "hgvs": "XP_016875043.1:p.Glu484=" }, "referenceSequence": "http://reg.genome.network/refseq/RS571238" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "A", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XR_001748795.1:n.1631A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS596740" }, { "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "A", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "XR_001748796.1:n.1613A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS596741" }, { "@id": "http://reg.genome.network/allele/PA3079324389", "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "A", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_018171.4:c.1451A=" ], "proteinEffect": { "hgvs": "NP_060641.2:p.Glu484=" }, "referenceSequence": "http://reg.genome.network/refseq/RS669543" }, { "@id": "http://reg.genome.network/allele/PA3079324389", "coordinates": [ { "allele": "A", "end": 1613, "referenceAllele": "A", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_018171.5:c.1451A=" ], "proteinEffect": { "hgvs": "NP_060641.2:p.Glu484=" }, "referenceSequence": "http://reg.genome.network/refseq/RS697976", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258530.8:c.1451A=" }, "RefSeq": { "hgvs": "NM_018171.5:c.1451A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258530.3:p.Glu484=" }, "RefSeq": { "hgvs": "NP_060641.2:p.Glu484=" } } } }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "A", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_001251904.2:c.1469A=" ], "proteinEffect": { "hgvs": "NP_001238833.1:p.Glu490=" }, "referenceSequence": "http://reg.genome.network/refseq/RS714598" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "A", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN018242", "geneNCBI_id": 55198, "geneSymbol": "APPL2", "hgvs": [ "NM_001251905.2:c.1322A=" ], "proteinEffect": { "hgvs": "NP_001238834.1:p.Glu441=" }, "referenceSequence": "http://reg.genome.network/refseq/RS714599" } ], "type": "nucleotide" }