{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377641905", "communityStandardTitle": [ "NM_016341.4(PLCE1):c.5286A>T (p.Glu1762Asp)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.96058254A>T?assembly=hg19", "id": "chr10:g.96058254A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.94298497A>T?assembly=hg38", "id": "chr10:g.94298497A>T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 94298497, "referenceAllele": "A", "start": 94298496 } ], "hgvs": [ "NC_000010.11:g.94298497A>T", "CM000672.2:g.94298497A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 96058254, "referenceAllele": "A", "start": 96058253 } ], "hgvs": [ "NC_000010.10:g.96058254A>T", "CM000672.1:g.96058254A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 96048244, "referenceAllele": "A", "start": 96048243 } ], "hgvs": [ "NC_000010.9:g.96048244A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 309509, "referenceAllele": "A", "start": 309508 } ], "hgvs": [ "NG_015799.1:g.309509A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002831" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4362, "referenceAllele": "A", "start": 4361 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.2:c.4362A>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Glu1454Asp", "hgvsWellDefined": "ENSP00000360426.1:p.Glu1454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS824257" }, { "coordinates": [ { "allele": "T", "end": 5573, "referenceAllele": "A", "start": 5572 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685253.1:c.*1829A>T" ], "proteinEffect": { "hgvs": "ENSP00000509405.1:n.*1829A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829968" }, { "coordinates": [ { "allele": "T", "end": 2021, "referenceAllele": "A", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685889.1:n.2021A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830298" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "A", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686807.1:n.705A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830755" }, { "coordinates": [ { "allele": "T", "end": 5763, "referenceAllele": "A", "start": 5762 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686954.1:c.*570A>T" ], "proteinEffect": { "hgvs": "ENSP00000508416.1:n.*570A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830832" }, { "coordinates": [ { "allele": "T", "end": 4314, "referenceAllele": "A", "start": 4313 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000688810.1:c.4314A>T" ], "proteinEffect": { "hgvs": "ENSP00000509140.1:p.Glu1438Asp", "hgvsWellDefined": "ENSP00000509140.1:p.Glu1438Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS831832" }, { "coordinates": [ { "allele": "T", "end": 9494, "referenceAllele": "A", "start": 9493 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000689233.1:n.9494A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832066" }, { "coordinates": [ { "allele": "T", "end": 2959, "referenceAllele": "A", "start": 2958 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000690340.1:n.2959A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832652" }, { "coordinates": [ { "allele": "T", "end": 5484, "referenceAllele": "A", "start": 5483 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692286.1:c.5154A>T" ], "proteinEffect": { "hgvs": "ENSP00000509490.1:p.Glu1718Asp", "hgvsWellDefined": "ENSP00000509490.1:p.Glu1718Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS833642" }, { "coordinates": [ { "allele": "T", "end": 5827, "referenceAllele": "A", "start": 5826 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692396.1:c.5238A>T" ], "proteinEffect": { "hgvs": "ENSP00000508605.1:p.Glu1746Asp", "hgvsWellDefined": "ENSP00000508605.1:p.Glu1746Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS833700" }, { "coordinates": [ { "allele": "T", "end": 5978, "referenceAllele": "A", "start": 5977 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.8:c.5286A>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Glu1762Asp", "hgvsWellDefined": "ENSP00000360431.2:p.Glu1762Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS750778", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5286A>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5286A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Glu1762Asp" }, "RefSeq": { "hgvs": "NP_057425.3:p.Glu1762Asp" } } } }, { "coordinates": [ { "allele": "T", "end": 4315, "referenceAllele": "A", "start": 4314 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.8:c.4260A>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.4:p.Glu1420Asp", "hgvsWellDefined": "ENSP00000360438.4:p.Glu1420Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS750781" }, { "coordinates": [ { "allele": "T", "end": 3841, "referenceAllele": "A", "start": 3840 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674738.1:c.3841A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774660" }, { "coordinates": [ { "allele": "T", "end": 3402, "referenceAllele": "A", "start": 3401 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674827.1:c.3402A>T" ], "proteinEffect": { "hgvs": "ENSP00000502523.1:p.Glu1134Asp", "hgvsWellDefined": "ENSP00000502523.1:p.Glu1134Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS774733" }, { "coordinates": [ { "allele": "T", "end": 4362, "referenceAllele": "A", "start": 4361 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675218.1:c.4362A>T" ], "proteinEffect": { "hgvs": "ENSP00000501910.1:p.Glu1454Asp", "hgvsWellDefined": "ENSP00000501910.1:p.Glu1454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS775069" }, { "coordinates": [ { "allele": "T", "end": 5519, "referenceAllele": "A", "start": 5518 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675487.1:c.*1219A>T" ], "proteinEffect": { "hgvs": "ENSP00000502340.1:n.*1219A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775302" }, { "coordinates": [ { "allele": "T", "end": 4555, "referenceAllele": "A", "start": 4554 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675718.1:c.4555A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775499" }, { "coordinates": [ { "allele": "T", "end": 5920, "referenceAllele": "A", "start": 5919 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000260766.7:c.5286A>T" ], "proteinEffect": { "hgvs": "ENSP00000260766.3:p.Glu1762Asp", "hgvsWellDefined": "ENSP00000260766.3:p.Glu1762Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS250633" }, { "coordinates": [ { "allele": "T", "end": 4362, "referenceAllele": "A", "start": 4361 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.1:c.4362A>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Glu1454Asp", "hgvsWellDefined": "ENSP00000360426.1:p.Glu1454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS268554" }, { "coordinates": [ { "allele": "T", "end": 5521, "referenceAllele": "A", "start": 5520 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.7:c.5286A>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Glu1762Asp", "hgvsWellDefined": "ENSP00000360431.2:p.Glu1762Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS268558" }, { "coordinates": [ { "allele": "T", "end": 4431, "referenceAllele": "A", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.7:c.4362A>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.3:p.Glu1454Asp", "hgvsWellDefined": "ENSP00000360438.3:p.Glu1454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS268561" }, { "coordinates": [ { "allele": "T", "end": 4431, "referenceAllele": "A", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001165979.2:c.4362A>T" ], "proteinEffect": { "hgvs": "NP_001159451.1:p.Glu1454Asp", "hgvsWellDefined": "NP_001159451.1:p.Glu1454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS014755" }, { "coordinates": [ { "allele": "T", "end": 5872, "referenceAllele": "A", "start": 5871 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.1:c.5238A>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Glu1746Asp", "hgvsWellDefined": "NP_001275918.1:p.Glu1746Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS023698" }, { "coordinates": [ { "allele": "T", "end": 5920, "referenceAllele": "A", "start": 5919 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.3:c.5286A>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Glu1762Asp", "hgvsWellDefined": "NP_057425.3:p.Glu1762Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS034631" }, { "coordinates": [ { "allele": "T", "end": 5912, "referenceAllele": "A", "start": 5911 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.2:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Glu1776Asp", "hgvsWellDefined": "XP_006717948.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072360" }, { "coordinates": [ { "allele": "T", "end": 5912, "referenceAllele": "A", "start": 5911 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717886.2:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_006717949.1:p.Glu1776Asp", "hgvsWellDefined": "XP_006717949.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072361" }, { "coordinates": [ { "allele": "T", "end": 5909, "referenceAllele": "A", "start": 5908 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.2:c.5325A>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Glu1775Asp", "hgvsWellDefined": "XP_006717951.1:p.Glu1775Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072362" }, { "coordinates": [ { "allele": "T", "end": 5864, "referenceAllele": "A", "start": 5863 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.2:c.5280A>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Glu1760Asp", "hgvsWellDefined": "XP_006717952.1:p.Glu1760Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072363" }, { "coordinates": [ { "allele": "T", "end": 4426, "referenceAllele": "A", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.1:c.4404A>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Glu1468Asp", "hgvsWellDefined": "XP_006717953.1:p.Glu1468Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072364" }, { "coordinates": [ { "allele": "T", "end": 5711, "referenceAllele": "A", "start": 5710 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.1:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Glu1776Asp", "hgvsWellDefined": "XP_011538151.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106799" }, { "coordinates": [ { "allele": "T", "end": 4208, "referenceAllele": "A", "start": 4207 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.1:c.4173A>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Glu1391Asp", "hgvsWellDefined": "XP_011538152.1:p.Glu1391Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106800" }, { "coordinates": [ { "allele": "T", "end": 5910, "referenceAllele": "A", "start": 5909 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.4:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Glu1776Asp", "hgvsWellDefined": "XP_006717948.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS539503" }, { "coordinates": [ { "allele": "T", "end": 5907, "referenceAllele": "A", "start": 5906 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.4:c.5325A>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Glu1775Asp", "hgvsWellDefined": "XP_006717951.1:p.Glu1775Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS539504" }, { "coordinates": [ { "allele": "T", "end": 5862, "referenceAllele": "A", "start": 5861 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.4:c.5280A>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Glu1760Asp", "hgvsWellDefined": "XP_006717952.1:p.Glu1760Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS539505" }, { "coordinates": [ { "allele": "T", "end": 4426, "referenceAllele": "A", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.3:c.4404A>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Glu1468Asp", "hgvsWellDefined": "XP_006717953.1:p.Glu1468Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS539506" }, { "coordinates": [ { "allele": "T", "end": 7067, "referenceAllele": "A", "start": 7066 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.3:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Glu1776Asp", "hgvsWellDefined": "XP_011538151.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS553823" }, { "coordinates": [ { "allele": "T", "end": 5555, "referenceAllele": "A", "start": 5554 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.3:c.4173A>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Glu1391Asp", "hgvsWellDefined": "XP_011538152.1:p.Glu1391Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS553824" }, { "coordinates": [ { "allele": "T", "end": 5957, "referenceAllele": "A", "start": 5956 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016310.2:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_016871799.1:p.Glu1776Asp", "hgvsWellDefined": "XP_016871799.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568781" }, { "coordinates": [ { "allele": "T", "end": 5910, "referenceAllele": "A", "start": 5909 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016311.2:c.5328A>T" ], "proteinEffect": { "hgvs": "XP_016871800.1:p.Glu1776Asp", "hgvsWellDefined": "XP_016871800.1:p.Glu1776Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568782" }, { "coordinates": [ { "allele": "T", "end": 4336, "referenceAllele": "A", "start": 4335 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016312.2:c.4314A>T" ], "proteinEffect": { "hgvs": "XP_016871801.1:p.Glu1438Asp", "hgvsWellDefined": "XP_016871801.1:p.Glu1438Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568783" }, { "coordinates": [ { "allele": "T", "end": 5930, "referenceAllele": "A", "start": 5929 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.2:c.5238A>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Glu1746Asp", "hgvsWellDefined": "NP_001275918.1:p.Glu1746Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS682560" }, { "coordinates": [ { "allele": "T", "end": 5978, "referenceAllele": "A", "start": 5977 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.4:c.5286A>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Glu1762Asp", "hgvsWellDefined": "NP_057425.3:p.Glu1762Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS697711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5286A>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5286A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Glu1762Asp" }, "RefSeq": { "hgvs": "NP_057425.3:p.Glu1762Asp" } } } } ], "type": "nucleotide" }