{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8040878", "communityStandardTitle": [ "NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273730[alleleid]", "alleleId": 273730, "preferredName": "NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289493", "RCV": [ "RCV000393619", "RCV000778463" ], "variationId": 289493 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-47675541-C-T", "id": "16-47675541-C-T", "variant": "16:47675541 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47675541C>T?assembly=hg19", "id": "chr16:g.47675541C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47641630C>T?assembly=hg38", "id": "chr16:g.47641630C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/758004953", "rs": 758004953 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47675541-C-T?dataset=gnomad_r2_1", "id": "16-47675541-C-T", "variant": "16:47675541 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47641630-C-T?dataset=gnomad_r3", "id": "16-47641630-C-T", "variant": "16:47641630 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47641630-C-T?dataset=gnomad_r4", "id": "16-47641630-C-T", "variant": "16:47641630 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47641630, "referenceAllele": "C", "start": 47641629 } ], "hgvs": [ "NC_000016.10:g.47641630C>T", "CM000678.2:g.47641630C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47675541, "referenceAllele": "C", "start": 47675540 } ], "hgvs": [ "NC_000016.9:g.47675541C>T", "CM000678.1:g.47675541C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 46233042, "referenceAllele": "C", "start": 46233041 } ], "hgvs": [ "NC_000016.8:g.46233042C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 185332, "referenceAllele": "C", "start": 185331 } ], "hgvs": [ "NG_016598.1:g.185332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1766, "referenceAllele": "C", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.*120C>T" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:n.*120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "T", "end": 1693, "referenceAllele": "C", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Gln509Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Gln509_Lys813delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.1546C>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Gln516Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1546C>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1546C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Gln516Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Gln516Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.1546C>T" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Gln516Ter", "hgvsWellDefined": "ENSP00000299167.8:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "T", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.1546C>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Gln516Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "T", "end": 1714, "referenceAllele": "C", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Gln509Ter", "hgvsWellDefined": "ENSP00000456729.1:p.Gln509_Ser1086delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "@id": "http://reg.genome.network/allele/PA645425558", "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.1546C>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Gln516Ter", "hgvsWellDefined": "NP_000284.1:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825356997", "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.1525C>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Gln509Ter", "hgvsWellDefined": "NP_001027005.1:p.Gln509_Ser1086delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.1546C>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Gln516Ter", "hgvsWellDefined": "XP_005256040.1:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "T", "end": 1724, "referenceAllele": "C", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Gln509Ter", "hgvsWellDefined": "XP_005256041.1:p.Gln509_Ser1086delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.1546C>T" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Gln516Ter", "hgvsWellDefined": "XP_011521408.1:p.Gln516_Trp779delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523107.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_011521409.1:p.Gln42Ter", "hgvsWellDefined": "XP_011521409.1:p.Gln42_Ser619delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090247" }, { "@id": "http://reg.genome.network/allele/PA916044407", "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.1546C>T" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Gln516Ter", "hgvsWellDefined": "NP_001350766.1:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.1546C>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Gln516Ter", "hgvsWellDefined": "XP_005256040.1:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Gln509Ter", "hgvsWellDefined": "XP_005256041.1:p.Gln509_Ser1086delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "C", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.433C>T" ], "proteinEffect": { "hgvs": "XP_016878771.1:p.Gln145Ter", "hgvsWellDefined": "XP_016878771.1:p.Gln145_Ser722delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "T", "end": 1766, "referenceAllele": "C", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_016878772.1:p.Gln42Ter", "hgvsWellDefined": "XP_016878772.1:p.Gln42_Ser619delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.124C>T" ], "proteinEffect": { "hgvs": "XP_016878773.1:p.Gln42Ter", "hgvsWellDefined": "XP_016878773.1:p.Gln42_Ser619delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.1561C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA645425558", "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.1546C>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Gln516Ter", "hgvsWellDefined": "NP_000284.1:p.Gln516_Ser1093delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1546C>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1546C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Gln516Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Gln516Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356997", "coordinates": [ { "allele": "T", "end": 1678, "referenceAllele": "C", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.1525C>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Gln509Ter", "hgvsWellDefined": "NP_001027005.1:p.Gln509_Ser1086delinsThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }