{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA127841", "communityStandardTitle": [ "NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33192[alleleid]", "alleleId": 33192, "preferredName": "NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18153", "RCV": [ "RCV000019783", "RCV000084284" ], "variationId": 18153 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73637671T>C?assembly=hg19", "id": "chr14:g.73637671T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73170963T>C?assembly=hg38", "id": "chr14:g.73170963T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750599", "rs": 63750599 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 73170963, "referenceAllele": "T", "start": 73170962 } ], "hgvs": [ "NC_000014.9:g.73170963T>C", "CM000676.2:g.73170963T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 73637671, "referenceAllele": "T", "start": 73637670 } ], "hgvs": [ "NC_000014.8:g.73637671T>C", "CM000676.1:g.73637671T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "C", "end": 72707424, "referenceAllele": "T", "start": 72707423 } ], "hgvs": [ "NC_000014.7:g.72707424T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "C", "end": 39493, "referenceAllele": "T", "start": 39492 } ], "hgvs": [ "NG_007386.2:g.39493T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000560" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 651, "referenceAllele": "T", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553447.7:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000514869.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS905852" }, { "coordinates": [ { "allele": "C", "end": 558, "referenceAllele": "T", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.6:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000452477.2:p.Leu81Pro", "hgvsWellDefined": "ENSP00000452477.2:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS905856" }, { "coordinates": [ { "allele": "C", "end": 518, "referenceAllele": "T", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.6:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000451915.2:p.Leu85Pro", "hgvsWellDefined": "ENSP00000451915.2:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS905859" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "T", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.6:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000450845.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS905866" }, { "coordinates": [ { "allele": "C", "end": 698, "referenceAllele": "T", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556011.6:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000451662.2:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS905871" }, { "coordinates": [ { "allele": "C", "end": 680, "referenceAllele": "T", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556066.2:n.680T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS905873" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "T", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.6:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000450551.2:p.Leu81Pro", "hgvsWellDefined": "ENSP00000450551.2:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS905881" }, { "coordinates": [ { "allele": "C", "end": 532, "referenceAllele": "T", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.6:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000451880.2:p.Leu85Pro", "hgvsWellDefined": "ENSP00000451880.2:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS905886" }, { "coordinates": [ { "allele": "C", "end": 569, "referenceAllele": "T", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.6:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS905908" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "T", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697912.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000513477.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000513477.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS909070" }, { "coordinates": [ { "allele": "C", "end": 508, "referenceAllele": "T", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697913.1:n.508T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS909071" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697914.1:n.466T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS909072" }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700265.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514901.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514901.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911092" }, { "coordinates": [ { "allele": "C", "end": 749, "referenceAllele": "T", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700266.1:c.*343T>C" ], "proteinEffect": { "hgvs": "ENSP00000514902.1:n.*343T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911093" }, { "coordinates": [ { "allele": "C", "end": 411, "referenceAllele": "T", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700267.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514903.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514903.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911094" }, { "coordinates": [ { "allele": "C", "end": 530, "referenceAllele": "T", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700268.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514904.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514904.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911095" }, { "coordinates": [ { "allele": "C", "end": 570, "referenceAllele": "T", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700269.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514905.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514905.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911096" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "T", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700270.1:n.510T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911097" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "T", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700271.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514906.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514906.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911098" }, { "coordinates": [ { "allele": "C", "end": 648, "referenceAllele": "T", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700272.1:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000514907.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911099" }, { "coordinates": [ { "allele": "C", "end": 550, "referenceAllele": "T", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700273.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514908.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514908.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911100" }, { "coordinates": [ { "allele": "C", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700302.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514929.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514929.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911127" }, { "coordinates": [ { "allele": "C", "end": 508, "referenceAllele": "T", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700303.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514930.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514930.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911128" }, { "coordinates": [ { "allele": "C", "end": 642, "referenceAllele": "T", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700304.1:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000514931.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911129" }, { "coordinates": [ { "allele": "C", "end": 500, "referenceAllele": "T", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700305.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514932.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514932.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911130" }, { "coordinates": [ { "allele": "C", "end": 543, "referenceAllele": "T", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700306.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514933.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514933.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911131" }, { "coordinates": [ { "allele": "C", "end": 496, "referenceAllele": "T", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700307.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514934.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514934.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911132" }, { "coordinates": [ { "allele": "C", "end": 604, "referenceAllele": "T", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700308.1:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000514935.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911133" }, { "coordinates": [ { "allele": "C", "end": 689, "referenceAllele": "T", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700309.1:c.*343T>C" ], "proteinEffect": { "hgvs": "ENSP00000514936.1:n.*343T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911134" }, { "coordinates": [ { "allele": "C", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700310.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514937.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514937.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911135" }, { "coordinates": [ { "allele": "C", "end": 507, "referenceAllele": "T", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700311.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514938.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514938.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911136" }, { "coordinates": [ { "allele": "C", "end": 366, "referenceAllele": "T", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700312.1:c.5T>C" ], "proteinEffect": { "hgvs": "ENSP00000514939.1:p.Leu2Pro", "hgvsWellDefined": "ENSP00000514939.1:p.Leu2Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911137" }, { "coordinates": [ { "allele": "C", "end": 491, "referenceAllele": "T", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700313.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514940.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514940.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911138" }, { "coordinates": [ { "allele": "C", "end": 552, "referenceAllele": "T", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700314.1:c.*193T>C" ], "proteinEffect": { "hgvs": "ENSP00000514941.1:n.*193T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911139" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700315.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514942.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514942.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911140" }, { "coordinates": [ { "allele": "C", "end": 558, "referenceAllele": "T", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700316.1:c.*34T>C" ], "proteinEffect": { "hgvs": "ENSP00000514943.1:n.*34T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911141" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "T", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700317.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514944.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514944.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911142" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700318.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514945.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514945.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911143" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700319.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514946.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514946.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911144" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700320.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514947.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514947.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911145" }, { "coordinates": [ { "allele": "C", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700321.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514948.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514948.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911146" }, { "coordinates": [ { "allele": "C", "end": 420, "referenceAllele": "T", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700322.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514949.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514949.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911147" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "T", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700323.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514950.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514950.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911148" }, { "coordinates": [ { "allele": "C", "end": 472, "referenceAllele": "T", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700324.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514951.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514951.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911149" }, { "coordinates": [ { "allele": "C", "end": 529, "referenceAllele": "T", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700375.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514966.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514966.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911167" }, { "coordinates": [ { "allele": "C", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700376.1:n.838T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911168" }, { "coordinates": [ { "allele": "C", "end": 850, "referenceAllele": "T", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700377.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514967.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514967.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911169" }, { "coordinates": [ { "allele": "C", "end": 850, "referenceAllele": "T", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700378.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514968.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514968.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911170" }, { "coordinates": [ { "allele": "C", "end": 652, "referenceAllele": "T", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700379.1:n.652T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911171" }, { "coordinates": [ { "allele": "C", "end": 501, "referenceAllele": "T", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700388.1:n.501T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911173" }, { "coordinates": [ { "allele": "C", "end": 654, "referenceAllele": "T", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700389.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514970.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514970.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911174" }, { "coordinates": [ { "allele": "C", "end": 1965, "referenceAllele": "T", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700390.1:n.1965T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911175" }, { "coordinates": [ { "allele": "C", "end": 1137, "referenceAllele": "T", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700404.1:n.1137T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911189" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700430.1:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000514985.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS911211" }, { "coordinates": [ { "allele": "C", "end": 377, "referenceAllele": "T", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700431.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000514986.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000514986.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911212" }, { "coordinates": [ { "allele": "C", "end": 611, "referenceAllele": "T", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700432.1:n.611T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911213" }, { "coordinates": [ { "allele": "C", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700433.1:n.389T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911214" }, { "coordinates": [ { "allele": "C", "end": 507, "referenceAllele": "T", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700434.1:n.507T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911215" }, { "coordinates": [ { "allele": "C", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700435.1:n.389T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911216" }, { "coordinates": [ { "allele": "C", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700436.1:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000514987.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000514987.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911217" }, { "coordinates": [ { "allele": "C", "end": 381, "referenceAllele": "T", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700437.1:c.5T>C" ], "proteinEffect": { "hgvs": "ENSP00000514988.1:p.Leu2Pro", "hgvsWellDefined": "ENSP00000514988.1:p.Leu2Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911218" }, { "coordinates": [ { "allele": "C", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700467.1:n.389T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911227" }, { "coordinates": [ { "allele": "C", "end": 377, "referenceAllele": "T", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700468.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000515001.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000515001.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911228" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700469.1:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000515002.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000515002.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS911229" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.10:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Leu85Pro", "hgvsWellDefined": "ENSP00000326366.5:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS746639", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.254T>C" }, "RefSeq": { "hgvs": "NM_000021.4:c.254T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Leu85Pro" }, "RefSeq": { "hgvs": "NP_000012.1:p.Leu85Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 526, "referenceAllele": "T", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.9:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Leu85Pro", "hgvsWellDefined": "ENSP00000326366.5:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS258358" }, { "coordinates": [ { "allele": "C", "end": 514, "referenceAllele": "T", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000357710.8:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000350342.4:p.Leu81Pro", "hgvsWellDefined": "ENSP00000350342.4:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS264203" }, { "coordinates": [ { "allele": "C", "end": 526, "referenceAllele": "T", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394157.7:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000377712.3:p.Leu85Pro", "hgvsWellDefined": "ENSP00000377712.3:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS276015" }, { "coordinates": [ { "allele": "C", "end": 784, "referenceAllele": "T", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394164.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000377719.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000377719.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS276020" }, { "coordinates": [ { "allele": "C", "end": 1800, "referenceAllele": "T", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000406768.1:c.-23T>C" ], "proteinEffect": { "hgvs": "ENSP00000385948.1:n.-23T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS280729" }, { "coordinates": [ { "allele": "C", "end": 558, "referenceAllele": "T", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000452477.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000452477.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS369986" }, { "coordinates": [ { "allele": "C", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553719.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000451674.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000451674.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS370080" }, { "coordinates": [ { "allele": "C", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553855.5:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000452242.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000452242.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS370182" }, { "coordinates": [ { "allele": "C", "end": 518, "referenceAllele": "T", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.5:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000451915.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000451915.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS370399" }, { "coordinates": [ { "allele": "C", "end": 541, "referenceAllele": "T", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555254.5:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000450652.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000450652.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS371296" }, { "coordinates": [ { "allele": "C", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000450845.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS371393" }, { "coordinates": [ { "allele": "C", "end": 515, "referenceAllele": "T", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556533.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000452128.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000452128.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS372298" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "T", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000450551.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000450551.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS372623" }, { "coordinates": [ { "allele": "C", "end": 532, "referenceAllele": "T", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.5:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000451880.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000451880.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS372909" }, { "coordinates": [ { "allele": "C", "end": 408, "referenceAllele": "T", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557356.5:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000451498.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000451498.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS372957" }, { "coordinates": [ { "allele": "C", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557511.5:c.254T>C" ], "proteinEffect": { "hgvs": "ENSP00000451429.1:p.Leu85Pro", "hgvsWellDefined": "ENSP00000451429.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS373091" }, { "coordinates": [ { "allele": "C", "end": 569, "referenceAllele": "T", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.5:c.*198T>C" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*198T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS374522" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "T", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000560005.6:c.242T>C" ], "proteinEffect": { "hgvs": "ENSP00000453466.1:p.Leu81Pro", "hgvsWellDefined": "ENSP00000453466.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS375024" }, { "@id": "http://reg.genome.network/allele/PA127842", "coordinates": [ { "allele": "C", "end": 538, "referenceAllele": "T", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.3:c.254T>C" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Leu85Pro", "hgvsWellDefined": "NP_000012.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006086" }, { "@id": "http://reg.genome.network/allele/PA2829713854", "coordinates": [ { "allele": "C", "end": 526, "referenceAllele": "T", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.2:c.242T>C" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Leu81Pro", "hgvsWellDefined": "NP_015557.2:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS032224" }, { "coordinates": [ { "allele": "C", "end": 532, "referenceAllele": "T", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.1:c.254T>C" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Leu85Pro", "hgvsWellDefined": "XP_005267921.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065537" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "T", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.1:c.242T>C" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Leu81Pro", "hgvsWellDefined": "XP_005267923.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS065538" }, { "coordinates": [ { "allele": "C", "end": 430, "referenceAllele": "T", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536971.1:c.254T>C" ], "proteinEffect": { "hgvs": "XP_011535273.1:p.Leu85Pro", "hgvsWellDefined": "XP_011535273.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS103942" }, { "coordinates": [ { "allele": "C", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.1:c.254T>C" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Leu85Pro", "hgvsWellDefined": "XP_011535274.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS103943" }, { "coordinates": [ { "allele": "C", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.1:c.242T>C" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Leu81Pro", "hgvsWellDefined": "XP_011535275.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS103944" }, { "coordinates": [ { "allele": "C", "end": 423, "referenceAllele": "T", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.1:c.242T>C" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Leu81Pro", "hgvsWellDefined": "XP_011535276.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS103945" }, { "coordinates": [ { "allele": "C", "end": 524, "referenceAllele": "T", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.3:c.254T>C" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Leu85Pro", "hgvsWellDefined": "XP_005267921.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS536476" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "T", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.2:c.242T>C" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Leu81Pro", "hgvsWellDefined": "XP_005267923.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS536477" }, { "coordinates": [ { "allele": "C", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.2:c.254T>C" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Leu85Pro", "hgvsWellDefined": "XP_011535274.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS552699" }, { "coordinates": [ { "allele": "C", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.2:c.242T>C" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Leu81Pro", "hgvsWellDefined": "XP_011535275.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS552700" }, { "coordinates": [ { "allele": "C", "end": 418, "referenceAllele": "T", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.2:c.242T>C" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Leu81Pro", "hgvsWellDefined": "XP_011535276.1:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS552701" }, { "@id": "http://reg.genome.network/allele/PA127842", "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.4:c.254T>C" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Leu85Pro", "hgvsWellDefined": "NP_000012.1:p.Leu85Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS662285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.254T>C" }, "RefSeq": { "hgvs": "NM_000021.4:c.254T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Leu85Pro" }, "RefSeq": { "hgvs": "NP_000012.1:p.Leu85Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2829713854", "coordinates": [ { "allele": "C", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.3:c.242T>C" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Leu81Pro", "hgvsWellDefined": "NP_015557.2:p.Leu81Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS696969" } ], "type": "nucleotide" }