{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354540204", "communityStandardTitle": [ "NM_001378687.1(ATP2C1):c.1356C>A (p.Tyr452Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2146772[alleleid]", "alleleId": 2146772, "preferredName": "NM_001378687.1(ATP2C1):c.1356C>A (p.Tyr452Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2097916", "RCV": [ "RCV003006477" ], "variationId": 2097916 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.130688183C>A?assembly=hg19", "id": "chr3:g.130688183C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.130969339C>A?assembly=hg38", "id": "chr3:g.130969339C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2531133399", "rs": 2531133399 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 130969339, "referenceAllele": "C", "start": 130969338 } ], "hgvs": [ "NC_000003.12:g.130969339C>A", "CM000665.2:g.130969339C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 130688183, "referenceAllele": "C", "start": 130688182 } ], "hgvs": [ "NC_000003.11:g.130688183C>A", "CM000665.1:g.130688183C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 132170873, "referenceAllele": "C", "start": 132170872 } ], "hgvs": [ "NC_000003.10:g.132170873C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 79750, "referenceAllele": "C", "start": 79749 } ], "hgvs": [ "NG_007379.1:g.79750C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000554" }, { "coordinates": [ { "allele": "A", "end": 123815, "referenceAllele": "C", "start": 123814 } ], "hgvs": [ "NG_007379.2:g.123815C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616074" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000510168.6:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000427461.1:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000427461.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758205", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000510168.6:c.1356C>A" }, "RefSeq": { "hgvs": "NM_001378687.1:c.1356C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000427461.1:p.Tyr452Ter" }, "RefSeq": { "hgvs": "NP_001365616.1:p.Tyr452Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "C", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000328560.12:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000329664.8:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000329664.8:p.Tyr452_Gly888delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuGlyLeuAlaLeuGlyGluGluTrpThrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258934" }, { "coordinates": [ { "allele": "A", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000359644.7:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000352665.3:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000352665.3:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264856" }, { "coordinates": [ { "allele": "A", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000422190.6:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000402677.2:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000402677.2:p.Tyr452_Val939delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287155" }, { "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "C", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000428331.6:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000395809.2:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000395809.2:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290146" }, { "coordinates": [ { "allele": "A", "end": 1567, "referenceAllele": "C", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504381.5:c.1341C>A" ], "proteinEffect": { "hgvs": "ENSP00000425320.2:p.Tyr447Ter", "hgvsWellDefined": "ENSP00000425320.2:p.Tyr447_Val944delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336456" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504571.5:c.417C>A" ], "proteinEffect": { "hgvs": "ENSP00000422489.1:p.Tyr139Ter", "hgvsWellDefined": "ENSP00000422489.1:p.Tyr139_Phe215delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValTyrLeuValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336595" }, { "coordinates": [ { "allele": "A", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504612.5:c.1217C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336624" }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "C", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000504948.5:c.1308C>A" ], "proteinEffect": { "hgvs": "ENSP00000423330.1:p.Tyr436Ter", "hgvsWellDefined": "ENSP00000423330.1:p.Tyr436_Val903delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336864" }, { "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000505330.5:c.1458C>A" ], "proteinEffect": { "hgvs": "ENSP00000423774.2:p.Tyr486Ter", "hgvsWellDefined": "ENSP00000423774.2:p.Tyr486_Val953delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS337151" }, { "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "C", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000507488.6:c.1458C>A" ], "proteinEffect": { "hgvs": "ENSP00000421326.3:p.Tyr486Ter", "hgvsWellDefined": "ENSP00000421326.3:p.Tyr486_Val973delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338762" }, { "coordinates": [ { "allele": "A", "end": 1765, "referenceAllele": "C", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000508532.5:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000424783.1:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000424783.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339532" }, { "coordinates": [ { "allele": "A", "end": 80, "referenceAllele": "C", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000508660.5:c.80C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS339633" }, { "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000510168.5:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000427461.1:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000427461.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340754" }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "C", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000513801.5:c.1308C>A" ], "proteinEffect": { "hgvs": "ENSP00000422872.1:p.Tyr436Ter", "hgvsWellDefined": "ENSP00000422872.1:p.Tyr436_Val923delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343450" }, { "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "C", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000514654.5:n.1526C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344088" }, { "coordinates": [ { "allele": "A", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "ENST00000533801.6:c.1356C>A" ], "proteinEffect": { "hgvs": "ENSP00000432956.3:p.Tyr452Ter", "hgvsWellDefined": "ENSP00000432956.3:p.Tyr452_Gly888delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuGlyLeuAlaLeuGlyGluGluTrpThrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS358517" }, { "@id": "http://reg.genome.network/allele/PA2825226714", "coordinates": [ { "allele": "A", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001485.2:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001001485.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001001485.1:p.Tyr452_Gly888delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuGlyLeuAlaLeuGlyGluGluTrpThrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007066" }, { "@id": "http://reg.genome.network/allele/PA2825226942", "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001486.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001001486.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001001486.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007067" }, { "@id": "http://reg.genome.network/allele/PA2825227219", "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001487.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001001487.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001001487.1:p.Tyr452_Val939delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007068" }, { "@id": "http://reg.genome.network/allele/PA2826236008", "coordinates": [ { "allele": "A", "end": 1765, "referenceAllele": "C", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199179.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001186108.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001186108.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017017" }, { "@id": "http://reg.genome.network/allele/PA2826236086", "coordinates": [ { "allele": "A", "end": 1754, "referenceAllele": "C", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199180.1:c.1458C>A" ], "proteinEffect": { "hgvs": "NP_001186109.1:p.Tyr486Ter", "hgvsWellDefined": "NP_001186109.1:p.Tyr486_Val973delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017018" }, { "@id": "http://reg.genome.network/allele/PA2826236162", "coordinates": [ { "allele": "A", "end": 1754, "referenceAllele": "C", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199181.1:c.1458C>A" ], "proteinEffect": { "hgvs": "NP_001186110.1:p.Tyr486Ter", "hgvsWellDefined": "NP_001186110.1:p.Tyr486_Val953delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017019" }, { "@id": "http://reg.genome.network/allele/PA2826236233", "coordinates": [ { "allele": "A", "end": 1637, "referenceAllele": "C", "start": 1636 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199182.1:c.1341C>A" ], "proteinEffect": { "hgvs": "NP_001186111.1:p.Tyr447Ter", "hgvsWellDefined": "NP_001186111.1:p.Tyr447_Val944delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017020" }, { "@id": "http://reg.genome.network/allele/PA2826236309", "coordinates": [ { "allele": "A", "end": 1627, "referenceAllele": "C", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199183.1:c.1308C>A" ], "proteinEffect": { "hgvs": "NP_001186112.1:p.Tyr436Ter", "hgvsWellDefined": "NP_001186112.1:p.Tyr436_Val923delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017021" }, { "@id": "http://reg.genome.network/allele/PA2826236385", "coordinates": [ { "allele": "A", "end": 1627, "referenceAllele": "C", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199184.1:c.1308C>A" ], "proteinEffect": { "hgvs": "NP_001186113.1:p.Tyr436Ter", "hgvsWellDefined": "NP_001186113.1:p.Tyr436_Val903delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017022" }, { "@id": "http://reg.genome.network/allele/PA2826236464", "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "C", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199185.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001186114.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001186114.1:p.Tyr452_Gly888delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuGlyLeuAlaLeuGlyGluGluTrpThrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017023" }, { "@id": "http://reg.genome.network/allele/PA2829738822", "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "C", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_014382.3:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_055197.2:p.Tyr452Ter", "hgvsWellDefined": "NP_055197.2:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033133" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247354.1:c.1458C>A" ], "proteinEffect": { "hgvs": "XP_005247411.1:p.Tyr486Ter", "hgvsWellDefined": "XP_005247411.1:p.Tyr486_Val983delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058010" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247355.1:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_005247412.1:p.Tyr452Ter", "hgvsWellDefined": "XP_005247412.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058011" }, { "coordinates": [ { "allele": "A", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247356.1:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_005247413.1:p.Tyr452Ter", "hgvsWellDefined": "XP_005247413.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058012" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247357.1:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_005247414.1:p.Tyr452Ter", "hgvsWellDefined": "XP_005247414.1:p.Tyr452_Val939delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058013" }, { "coordinates": [ { "allele": "A", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247358.1:c.1308C>A" ], "proteinEffect": { "hgvs": "XP_005247415.1:p.Tyr436Ter", "hgvsWellDefined": "XP_005247415.1:p.Tyr436_Val933delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058014" }, { "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_006713585.1:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_006713648.1:p.Tyr452Ter", "hgvsWellDefined": "XP_006713648.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070248" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_011512685.1:c.1458C>A" ], "proteinEffect": { "hgvs": "XP_011510987.1:p.Tyr486Ter", "hgvsWellDefined": "XP_011510987.1:p.Tyr486_Val926delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079941" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_011512686.1:c.522C>A" ], "proteinEffect": { "hgvs": "XP_011510988.1:p.Tyr174Ter", "hgvsWellDefined": "XP_011510988.1:p.Tyr174_Val671delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079942" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_011512687.1:c.1458C>A" ], "proteinEffect": { "hgvs": "XP_011510989.1:p.Tyr486Ter", "hgvsWellDefined": "XP_011510989.1:p.Tyr486_Ser564delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgGlyCysSerIleLeuGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079943" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "C", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247354.2:c.1458C>A" ], "proteinEffect": { "hgvs": "XP_005247411.1:p.Tyr486Ter", "hgvsWellDefined": "XP_005247411.1:p.Tyr486_Val983delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532810" }, { "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247355.2:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_005247412.1:p.Tyr452Ter", "hgvsWellDefined": "XP_005247412.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532811" }, { "coordinates": [ { "allele": "A", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247356.3:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_005247413.1:p.Tyr452Ter", "hgvsWellDefined": "XP_005247413.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532812" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_005247358.3:c.1308C>A" ], "proteinEffect": { "hgvs": "XP_005247415.1:p.Tyr436Ter", "hgvsWellDefined": "XP_005247415.1:p.Tyr436_Val933delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532813" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "C", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_011512686.2:c.522C>A" ], "proteinEffect": { "hgvs": "XP_011510988.1:p.Tyr174Ter", "hgvsWellDefined": "XP_011510988.1:p.Tyr174_Val671delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542635" }, { "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "C", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "XM_017006164.2:c.1356C>A" ], "proteinEffect": { "hgvs": "XP_016861653.1:p.Tyr452Ter", "hgvsWellDefined": "XP_016861653.1:p.Tyr452_Val939delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561258" }, { "@id": "http://reg.genome.network/allele/PA2826236008", "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199179.2:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001186108.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001186108.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679513" }, { "@id": "http://reg.genome.network/allele/PA2826236086", "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199180.2:c.1458C>A" ], "proteinEffect": { "hgvs": "NP_001186109.1:p.Tyr486Ter", "hgvsWellDefined": "NP_001186109.1:p.Tyr486_Val973delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679514" }, { "@id": "http://reg.genome.network/allele/PA2826236162", "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199181.2:c.1458C>A" ], "proteinEffect": { "hgvs": "NP_001186110.1:p.Tyr486Ter", "hgvsWellDefined": "NP_001186110.1:p.Tyr486_Val953delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679515" }, { "@id": "http://reg.genome.network/allele/PA2826236233", "coordinates": [ { "allele": "A", "end": 1567, "referenceAllele": "C", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199182.2:c.1341C>A" ], "proteinEffect": { "hgvs": "NP_001186111.1:p.Tyr447Ter", "hgvsWellDefined": "NP_001186111.1:p.Tyr447_Val944delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679516" }, { "@id": "http://reg.genome.network/allele/PA2826236309", "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199183.2:c.1308C>A" ], "proteinEffect": { "hgvs": "NP_001186112.1:p.Tyr436Ter", "hgvsWellDefined": "NP_001186112.1:p.Tyr436_Val923delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679517" }, { "@id": "http://reg.genome.network/allele/PA2826236385", "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199184.2:c.1308C>A" ], "proteinEffect": { "hgvs": "NP_001186113.1:p.Tyr436Ter", "hgvsWellDefined": "NP_001186113.1:p.Tyr436_Val903delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679518" }, { "@id": "http://reg.genome.network/allele/PA2826236464", "coordinates": [ { "allele": "A", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199185.2:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001186114.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001186114.1:p.Tyr452_Gly888delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuGlyLeuAlaLeuGlyGluGluTrpThrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679519" }, { "@id": "http://reg.genome.network/allele/PA2829738822", "coordinates": [ { "allele": "A", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_014382.4:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_055197.2:p.Tyr452Ter", "hgvsWellDefined": "NP_055197.2:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697246" }, { "@id": "http://reg.genome.network/allele/PA2825226714", "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001485.3:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001001485.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001001485.1:p.Tyr452_Gly888delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuGlyLeuAlaLeuGlyGluGluTrpThrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710915" }, { "@id": "http://reg.genome.network/allele/PA2825226942", "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001486.2:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001001486.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001001486.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710916" }, { "@id": "http://reg.genome.network/allele/PA2825227219", "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001001487.2:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001001487.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001001487.1:p.Tyr452_Val939delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710917" }, { "@id": "http://reg.genome.network/allele/PA2826236008", "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199179.3:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001186108.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001186108.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713953" }, { "@id": "http://reg.genome.network/allele/PA2826236162", "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199181.3:c.1458C>A" ], "proteinEffect": { "hgvs": "NP_001186110.1:p.Tyr486Ter", "hgvsWellDefined": "NP_001186110.1:p.Tyr486_Val953delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713954" }, { "@id": "http://reg.genome.network/allele/PA2826236385", "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001199184.3:c.1308C>A" ], "proteinEffect": { "hgvs": "NP_001186113.1:p.Tyr436Ter", "hgvsWellDefined": "NP_001186113.1:p.Tyr436_Val903delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713955" }, { "@id": "http://reg.genome.network/allele/PA2580242359", "coordinates": [ { "allele": "A", "end": 1684, "referenceAllele": "C", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378511.1:c.1458C>A" ], "proteinEffect": { "hgvs": "NP_001365440.1:p.Tyr486Ter", "hgvsWellDefined": "NP_001365440.1:p.Tyr486_Val983delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721740" }, { "@id": "http://reg.genome.network/allele/PA2828783029", "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378512.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001365441.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001365441.1:p.Tyr452_Val949delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721741" }, { "@id": "http://reg.genome.network/allele/PA2828783109", "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378513.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001365442.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001365442.1:p.Tyr452_Val939delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721742" }, { "@id": "http://reg.genome.network/allele/PA2828783185", "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378514.1:c.1308C>A" ], "proteinEffect": { "hgvs": "NP_001365443.1:p.Tyr436Ter", "hgvsWellDefined": "NP_001365443.1:p.Tyr436_Val933delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTrpLeuTrpGluArgSerGlyGlnGlnLeuValGluIleHisProHisLeuGluThrGlyLeuProLeuThrGluAspValSerCysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721743" }, { "@id": "http://reg.genome.network/allele/PA2828796120", "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_001378687.1:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_001365616.1:p.Tyr452Ter", "hgvsWellDefined": "NP_001365616.1:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721818", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000510168.6:c.1356C>A" }, "RefSeq": { "hgvs": "NM_001378687.1:c.1356C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000427461.1:p.Tyr452Ter" }, "RefSeq": { "hgvs": "NP_001365616.1:p.Tyr452Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829738822", "coordinates": [ { "allele": "A", "end": 1576, "referenceAllele": "C", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN013211", "geneNCBI_id": 27032, "geneSymbol": "ATP2C1", "hgvs": [ "NM_014382.5:c.1356C>A" ], "proteinEffect": { "hgvs": "NP_055197.2:p.Tyr452Ter", "hgvsWellDefined": "NP_055197.2:p.Tyr452_Val919delinsProPheSerSerGluGlnLysTrpMetAlaValLysCysValHisArgThrGlnGlnAspArgProGluIleCysPheMetLysGlyAlaTyrGluGlnValIleLysTyrCysThrThrTyrGlnSerLysGlyGlnThrLeuThrLeuThrGlnGlnGlnArgAspValTyrGlnGlnGluLysAlaArgMetGlySerAlaGlyLeuArgValLeuAlaLeuAlaSerGlyProGluLeuGlyGlnLeuThrPheLeuGlyLeuValGlyIleIleAspProProArgThrGlyValLysGluAlaValThrThrLeuIleAlaSerGlyValSerIleLysMetIleThrGlyAspSerGlnGluThrAlaValAlaIleAlaSerArgLeuGlyLeuTyrSerLysThrSerGlnSerValSerGlyGluGluIleAspAlaMetAspValGlnGlnLeuSerGlnIleValProLysValAlaValPheTyrArgAlaSerProArgHisLysMetLysIleIleLysSerLeuGlnLysAsnGlySerValValAlaMetThrGlyAspGlyValAsnAspAlaValAlaLeuLysAlaAlaAspIleGlyValAlaMetGlyGlnThrGlyThrAspValCysLysGluAlaAlaAspMetIleLeuValAspAspAspPheGlnThrIleMetSerAlaIleGluGluGlyLysGlyIleTyrAsnAsnIleLysAsnPheValArgPheGlnLeuSerThrSerIleAlaAlaLeuThrLeuIleSerLeuAlaThrLeuMetAsnPheProAsnProLeuAsnAlaMetGlnIleLeuTrpIleAsnIleIleMetAspGlyProProAlaGlnSerLeuGlyValGluProValAspLysAspValIleArgLysProProArgAsnTrpLysAspSerIleLeuThrLysAsnLeuIleLeuLysIleLeuValSerSerIleIleIleValCysGlyThrLeuPheValPheTrpArgGluLeuArgAspAsnValIleThrProArgAspThrThrMetThrPheThrCysPheValPhePheAspMetPheAsnAlaLeuSerSerArgSerGlnThrLysSerValPheGluIleGlyLeuCysSerAsnArgMetPheCysTyrAlaValLeuGlySerIleMetGlyGlnLeuLeuValIleTyrPheProProLeuGlnLysValPheGlnThrGluSerLeuSerIleLeuAspLeuLeuPheLeuLeuGlyLeuThrSerSerValCysIleValAlaGluIleIleLysLysValGluArgSerArgGluLysIleGlnLysHisValSerSerThrSerSerSerPheLeuGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727959" } ], "type": "nucleotide" }