{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA277370", "communityStandardTitle": [ "NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209220[alleleid]", "alleleId": 209220, "preferredName": "NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210395", "RCV": [ "RCV000194736", "RCV000807620" ], "variationId": 210395 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77258665C>T?assembly=hg19", "id": "chrX:g.77258665C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.78003168C>T?assembly=hg38", "id": "chrX:g.78003168C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797045332", "rs": 797045332 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 78003168, "referenceAllele": "C", "start": 78003167 } ], "hgvs": [ "NC_000023.11:g.78003168C>T", "CM000685.2:g.78003168C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77258665, "referenceAllele": "C", "start": 77258664 } ], "hgvs": [ "NC_000023.10:g.77258665C>T", "CM000685.1:g.77258665C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77145321, "referenceAllele": "C", "start": 77145320 } ], "hgvs": [ "NC_000023.9:g.77145321C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 97472, "referenceAllele": "C", "start": 97471 } ], "hgvs": [ "NG_013224.2:g.97472C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002729" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.10:c.1669C>T" ], "proteinEffect": { "hgvs": "ENSP00000343026.6:p.Arg557Ter", "hgvsWellDefined": "ENSP00000343026.6:p.Arg557_Leu1510delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824031" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000682742.2:n.1801C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827731" }, { "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000685264.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000510136.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000510136.1:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829973" }, { "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000685434.1:n.1673C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830073" }, { "coordinates": [ { "allele": "T", "end": 1757, "referenceAllele": "C", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686033.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000510693.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000510693.1:p.Arg547_Leu1435delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830367" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686133.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509233.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509233.1:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830415" }, { "coordinates": [ { "allele": "T", "end": 1993, "referenceAllele": "C", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686416.1:n.1993C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830559" }, { "coordinates": [ { "allele": "T", "end": 1757, "referenceAllele": "C", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686480.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000508978.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000508978.1:p.Arg547_Phe766delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830601" }, { "coordinates": [ { "allele": "T", "end": 1779, "referenceAllele": "C", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686515.1:n.1779C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830609" }, { "coordinates": [ { "allele": "T", "end": 1757, "referenceAllele": "C", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686543.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509477.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509477.1:p.Arg547_Leu1422delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830623" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686688.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509416.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509416.1:p.Arg547_Thr929delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830699" }, { "coordinates": [ { "allele": "T", "end": 1950, "referenceAllele": "C", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000686999.1:n.1950C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830855" }, { "coordinates": [ { "allele": "T", "end": 1952, "referenceAllele": "C", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687086.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509566.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509566.1:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830901" }, { "coordinates": [ { "allele": "T", "end": 1745, "referenceAllele": "C", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687416.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000510310.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000510310.1:p.Arg547_Trp586delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValSerLysIlePheCysValIleAsnLysThrSerArgLysLysThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831073" }, { "coordinates": [ { "allele": "T", "end": 1740, "referenceAllele": "C", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000687628.1:n.1740C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831183" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000688249.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000510644.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000510644.1:p.Arg547_Trp586delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValSerLysIlePheCysValIleAsnLysThrSerArgLysLysThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831523" }, { "coordinates": [ { "allele": "T", "end": 2788, "referenceAllele": "C", "start": 2787 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000688338.1:c.*771C>T" ], "proteinEffect": { "hgvs": "ENSP00000508672.1:n.*771C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS831576" }, { "coordinates": [ { "allele": "T", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000688746.1:n.1791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831794" }, { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689530.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509707.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509707.1:p.Arg547_Pro972del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832222" }, { "coordinates": [ { "allele": "T", "end": 1948, "referenceAllele": "C", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689541.1:n.1948C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832230" }, { "coordinates": [ { "allele": "T", "end": 1757, "referenceAllele": "C", "start": 1756 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689649.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509277.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509277.1:p.Arg547_Phe844delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832281" }, { "coordinates": [ { "allele": "T", "end": 1880, "referenceAllele": "C", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689767.1:c.1732C>T" ], "proteinEffect": { "hgvs": "ENSP00000509406.1:p.Arg578Ter", "hgvsWellDefined": "ENSP00000509406.1:p.Arg578_Leu1531delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832351" }, { "coordinates": [ { "allele": "T", "end": 4331, "referenceAllele": "C", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000689872.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000509373.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000509373.1:p.Arg547_Pro657delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluMetGluThrValPheSerCysGluSerValPheLeuTyrSerCysAsnGlyAlaAspAspIleTyrAspGlyTyrGlyProProLeuCysAsnSerSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832417" }, { "coordinates": [ { "allele": "T", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692110.1:c.1555C>T" ], "proteinEffect": { "hgvs": "ENSP00000509366.1:p.Arg519Ter", "hgvsWellDefined": "ENSP00000509366.1:p.Arg519_Gln696del" }, "referenceSequence": "http://reg.genome.network/refseq/RS833547" }, { "coordinates": [ { "allele": "T", "end": 1949, "referenceAllele": "C", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000692908.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000508627.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000508627.1:p.Arg547_Leu1422delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833947" }, { "coordinates": [ { "allele": "T", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693051.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000510332.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000510332.1:p.Arg547_Trp586delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValSerLysIlePheCysValIleAsnLysThrSerArgLysLysThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834037" }, { "coordinates": [ { "allele": "T", "end": 1899, "referenceAllele": "C", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693387.1:c.*1568C>T" ], "proteinEffect": { "hgvs": "ENSP00000508732.1:n.*1568C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS834219" }, { "coordinates": [ { "allele": "T", "end": 1755, "referenceAllele": "C", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000693398.1:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000510089.1:p.Arg547Ter", "hgvsWellDefined": "ENSP00000510089.1:p.Arg547_Thr929delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834228" }, { "coordinates": [ { "allele": "T", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.11:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Arg547Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.1639C>T" }, "RefSeq": { "hgvs": "NM_000052.7:c.1639C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Arg547Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Arg547Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 97, "endIntronDirection": "+", "endIntronOffset": 92333, "referenceAllele": "C", "start": 97, "startIntronDirection": "+", "startIntronOffset": 92332 } ], "gene": "http://reg.genome.network/gene/GN008896", "geneNCBI_id": 5230, "geneSymbol": "PGK1", "hgvs": [ "ENST00000644362.1:c.-20+92333C>T" ], "proteinEffect": { "hgvs": "ENSP00000496140.1:n.-20+92333C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767780" }, { "coordinates": [ { "allele": "T", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000645094.1:c.*1553C>T" ], "proteinEffect": { "hgvs": "ENSP00000493605.1:n.*1553C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768168" }, { "coordinates": [ { "allele": "T", "end": 1794, "referenceAllele": "C", "start": 1793 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000341514.10:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000345728.6:p.Arg547Ter", "hgvsWellDefined": "ENSP00000345728.6:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261356" }, { "coordinates": [ { "allele": "T", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000343533.9:c.1639C>T" ], "proteinEffect": { "hgvs": "ENSP00000343026.5:p.Arg547Ter", "hgvsWellDefined": "ENSP00000343026.5:p.Arg547_Leu1422delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261784" }, { "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "C", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "ENST00000350425.5:c.*812C>T" ], "proteinEffect": { "hgvs": "ENSP00000343678.5:n.*812C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS262680" }, { "@id": "http://reg.genome.network/allele/PA277371", "coordinates": [ { "allele": "T", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.6:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Arg547Ter", "hgvsWellDefined": "NP_000043.4:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006117" }, { "@id": "http://reg.genome.network/allele/PA916012646", "coordinates": [ { "allele": "T", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.1:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_001269153.1:p.Arg547Ter", "hgvsWellDefined": "NP_001269153.1:p.Arg547_Leu1422delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021822" }, { "coordinates": [ { "allele": "T", "end": 321, "endIntronDirection": "-", "endIntronOffset": 28231, "referenceAllele": "C", "start": 321, "startIntronDirection": "-", "startIntronOffset": 28232 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.1:n.322-28232C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053210" }, { "@id": "http://reg.genome.network/allele/PA277371", "coordinates": [ { "allele": "T", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_000052.7:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_000043.4:p.Arg547Ter", "hgvsWellDefined": "NP_000043.4:p.Arg547_Leu1500delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662302", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341514.11:c.1639C>T" }, "RefSeq": { "hgvs": "NM_000052.7:c.1639C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345728.6:p.Arg547Ter" }, "RefSeq": { "hgvs": "NP_000043.4:p.Arg547Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 284, "endIntronDirection": "-", "endIntronOffset": 28231, "referenceAllele": "C", "start": 284, "startIntronDirection": "-", "startIntronOffset": 28232 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NR_104109.2:n.285-28232C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702930" }, { "@id": "http://reg.genome.network/allele/PA916012646", "coordinates": [ { "allele": "T", "end": 1803, "referenceAllele": "C", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN000869", "geneNCBI_id": 538, "geneSymbol": "ATP7A", "hgvs": [ "NM_001282224.2:c.1639C>T" ], "proteinEffect": { "hgvs": "NP_001269153.1:p.Arg547Ter", "hgvsWellDefined": "NP_001269153.1:p.Arg547_Leu1422delinsGluLeuGlyPheGlyAlaThrValIleGluAsnAlaAspGluGlyAspGlyValLeuGluLeuValValArgGlyMetThrCysAlaSerCysValHisLysIleGluSerSerLeuThrLysHisArgGlyIleLeuTyrCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715769" } ], "type": "nucleotide" }