{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390299366", "communityStandardTitle": [ "NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=798677[alleleid]", "alleleId": 798677, "preferredName": "NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/807473", "RCV": [ "RCV000995615", "RCV003769343" ], "variationId": 807473 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73659420G>A?assembly=hg19", "id": "chr14:g.73659420G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73192712G>A?assembly=hg38", "id": "chr14:g.73192712G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750082", "rs": 63750082 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 73192712, "referenceAllele": "G", "start": 73192711 } ], "hgvs": [ "NC_000014.9:g.73192712G>A", "CM000676.2:g.73192712G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 73659420, "referenceAllele": "G", "start": 73659419 } ], "hgvs": [ "NC_000014.8:g.73659420G>A", "CM000676.1:g.73659420G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 72729173, "referenceAllele": "G", "start": 72729172 } ], "hgvs": [ "NC_000014.7:g.72729173G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 61242, "referenceAllele": "G", "start": 61241 } ], "hgvs": [ "NG_007386.2:g.61242G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000560" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.6:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000452477.2:p.Gly202Asp", "hgvsWellDefined": "ENSP00000452477.2:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS905856" }, { "coordinates": [ { "allele": "A", "end": 881, "referenceAllele": "G", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.6:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000451915.2:p.Gly206Asp", "hgvsWellDefined": "ENSP00000451915.2:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS905859" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.6:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000450845.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS905866" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556066.2:n.1043G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905873" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.6:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000450551.2:p.Gly202Asp", "hgvsWellDefined": "ENSP00000450551.2:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS905881" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.6:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000451880.2:p.Gly206Asp", "hgvsWellDefined": "ENSP00000451880.2:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS905886" }, { "coordinates": [ { "allele": "A", "end": 932, "referenceAllele": "G", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.6:c.*561G>A" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*561G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905908" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697912.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000513477.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000513477.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS909070" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697913.1:n.871G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909071" }, { "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700265.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514901.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514901.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911092" }, { "coordinates": [ { "allele": "A", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700266.1:c.*829G>A" ], "proteinEffect": { "hgvs": "ENSP00000514902.1:n.*829G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911093" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700267.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514903.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514903.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911094" }, { "coordinates": [ { "allele": "A", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700268.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514904.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514904.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911095" }, { "coordinates": [ { "allele": "A", "end": 933, "referenceAllele": "G", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700269.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514905.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514905.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911096" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700270.1:n.873G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911097" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700271.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514906.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514906.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911098" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700272.1:c.*561G>A" ], "proteinEffect": { "hgvs": "ENSP00000514907.1:n.*561G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911099" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700273.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514908.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514908.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911100" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700302.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514929.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514929.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911127" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700303.1:c.*279G>A" ], "proteinEffect": { "hgvs": "ENSP00000514930.1:n.*279G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911128" }, { "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "G", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700304.1:c.*561G>A" ], "proteinEffect": { "hgvs": "ENSP00000514931.1:n.*561G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911129" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "G", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700305.1:c.*175G>A" ], "proteinEffect": { "hgvs": "ENSP00000514932.1:n.*175G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911130" }, { "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700306.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514933.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514933.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911131" }, { "coordinates": [ { "allele": "A", "end": 859, "referenceAllele": "G", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700307.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514934.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514934.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911132" }, { "coordinates": [ { "allele": "A", "end": 967, "referenceAllele": "G", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700308.1:c.*561G>A" ], "proteinEffect": { "hgvs": "ENSP00000514935.1:n.*561G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911133" }, { "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700309.1:c.*706G>A" ], "proteinEffect": { "hgvs": "ENSP00000514936.1:n.*706G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911134" }, { "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700310.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514937.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514937.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911135" }, { "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700311.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514938.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514938.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911136" }, { "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "G", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700312.1:c.368G>A" ], "proteinEffect": { "hgvs": "ENSP00000514939.1:p.Gly123Asp", "hgvsWellDefined": "ENSP00000514939.1:p.Gly123Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911137" }, { "coordinates": [ { "allele": "A", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700313.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514940.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514940.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911138" }, { "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700314.1:c.*556G>A" ], "proteinEffect": { "hgvs": "ENSP00000514941.1:n.*556G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911139" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700315.1:c.*175G>A" ], "proteinEffect": { "hgvs": "ENSP00000514942.1:n.*175G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911140" }, { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700316.1:c.*397G>A" ], "proteinEffect": { "hgvs": "ENSP00000514943.1:n.*397G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911141" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700317.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514944.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514944.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911142" }, { "coordinates": [ { "allele": "A", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700318.1:c.*279G>A" ], "proteinEffect": { "hgvs": "ENSP00000514945.1:n.*279G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911143" }, { "coordinates": [ { "allele": "A", "end": 761, "referenceAllele": "G", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700319.1:c.*57G>A" ], "proteinEffect": { "hgvs": "ENSP00000514946.1:n.*57G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911144" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700320.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514947.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514947.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911145" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700321.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514948.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514948.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911146" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700322.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514949.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514949.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911147" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700323.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514950.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514950.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911148" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "G", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700324.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514951.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514951.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911149" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700375.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514966.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514966.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911167" }, { "coordinates": [ { "allele": "A", "end": 1201, "referenceAllele": "G", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700376.1:n.1201G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911168" }, { "coordinates": [ { "allele": "A", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700377.1:c.*85G>A" ], "proteinEffect": { "hgvs": "ENSP00000514967.1:n.*85G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911169" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700378.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514968.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514968.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911170" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700379.1:n.1015G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911171" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700388.1:n.864G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911173" }, { "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700389.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000514970.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000514970.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911174" }, { "coordinates": [ { "allele": "A", "end": 2328, "referenceAllele": "G", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700390.1:n.2328G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911175" }, { "coordinates": [ { "allele": "A", "end": 1616, "referenceAllele": "G", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700404.1:n.1616G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911189" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700432.1:n.974G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911213" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700433.1:n.868G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911214" }, { "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700434.1:n.870G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911215" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700435.1:n.752G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911216" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700436.1:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000514987.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000514987.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911217" }, { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700437.1:c.368G>A" ], "proteinEffect": { "hgvs": "ENSP00000514988.1:p.Gly123Asp", "hgvsWellDefined": "ENSP00000514988.1:p.Gly123Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911218" }, { "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "G", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700467.1:n.874G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911227" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700468.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000515001.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000515001.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911228" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700469.1:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000515002.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000515002.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS911229" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.10:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Gly206Asp", "hgvsWellDefined": "ENSP00000326366.5:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS746639", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.617G>A" }, "RefSeq": { "hgvs": "NM_000021.4:c.617G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Gly206Asp" }, "RefSeq": { "hgvs": "NP_000012.1:p.Gly206Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.9:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Gly206Asp", "hgvsWellDefined": "ENSP00000326366.5:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS258358" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000357710.8:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000350342.4:p.Gly202Asp", "hgvsWellDefined": "ENSP00000350342.4:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS264203" }, { "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394164.5:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000377719.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000377719.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS276020" }, { "coordinates": [ { "allele": "A", "end": 2163, "referenceAllele": "G", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000406768.1:c.341G>A" ], "proteinEffect": { "hgvs": "ENSP00000385948.1:p.Gly114Asp", "hgvsWellDefined": "ENSP00000385948.1:p.Gly114Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS280729" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553855.5:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000452242.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000452242.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS370182" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "G", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.5:c.605G>A" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Gly202Asp", "hgvsWellDefined": "ENSP00000450845.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS371393" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557511.5:c.617G>A" ], "proteinEffect": { "hgvs": "ENSP00000451429.1:p.Gly206Asp", "hgvsWellDefined": "ENSP00000451429.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS373091" }, { "@id": "http://reg.genome.network/allele/PA915953927", "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.3:c.617G>A" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Gly206Asp", "hgvsWellDefined": "NP_000012.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006086" }, { "@id": "http://reg.genome.network/allele/PA2829714119", "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.2:c.605G>A" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Gly202Asp", "hgvsWellDefined": "NP_015557.2:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS032224" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Gly206Asp", "hgvsWellDefined": "XP_005267921.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS065537" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.1:c.605G>A" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Gly202Asp", "hgvsWellDefined": "XP_005267923.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS065538" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "G", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536971.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_011535273.1:p.Gly206Asp", "hgvsWellDefined": "XP_011535273.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS103942" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.1:c.617G>A" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Gly206Asp", "hgvsWellDefined": "XP_011535274.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS103943" }, { "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "G", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.1:c.605G>A" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Gly202Asp", "hgvsWellDefined": "XP_011535275.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS103944" }, { "coordinates": [ { "allele": "A", "end": 786, "referenceAllele": "G", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.1:c.605G>A" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Gly202Asp", "hgvsWellDefined": "XP_011535276.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS103945" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.3:c.617G>A" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Gly206Asp", "hgvsWellDefined": "XP_005267921.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS536476" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.2:c.605G>A" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Gly202Asp", "hgvsWellDefined": "XP_005267923.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS536477" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "G", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.2:c.617G>A" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Gly206Asp", "hgvsWellDefined": "XP_011535274.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS552699" }, { "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "G", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.2:c.605G>A" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Gly202Asp", "hgvsWellDefined": "XP_011535275.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS552700" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.2:c.605G>A" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Gly202Asp", "hgvsWellDefined": "XP_011535276.1:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS552701" }, { "@id": "http://reg.genome.network/allele/PA915953927", "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.4:c.617G>A" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Gly206Asp", "hgvsWellDefined": "NP_000012.1:p.Gly206Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS662285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.617G>A" }, "RefSeq": { "hgvs": "NM_000021.4:c.617G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Gly206Asp" }, "RefSeq": { "hgvs": "NP_000012.1:p.Gly206Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2829714119", "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.3:c.605G>A" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Gly202Asp", "hgvsWellDefined": "NP_015557.2:p.Gly202Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696969" } ], "type": "nucleotide" }