{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA123432", "communityStandardTitle": [ "NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28793[alleleid]", "alleleId": 28793, "preferredName": "NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13754", "RCV": [ "RCV000014761" ], "variationId": 13754 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.46939602G>T?assembly=hg19", "id": "chr3:g.46939602G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.46898112G>T?assembly=hg38", "id": "chr3:g.46898112G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121434605", "rs": 121434605 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 46898112, "referenceAllele": "G", "start": 46898111 } ], "hgvs": [ "NC_000003.12:g.46898112G>T", "CM000665.2:g.46898112G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 46939602, "referenceAllele": "G", "start": 46939601 } ], "hgvs": [ "NC_000003.11:g.46939602G>T", "CM000665.1:g.46939602G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 46914606, "referenceAllele": "G", "start": 46914605 } ], "hgvs": [ "NC_000003.10:g.46914606G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 25367, "referenceAllele": "G", "start": 25366 } ], "hgvs": [ "NG_008864.1:g.25367G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001259" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000449590.6:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000402723.1:p.Glu155Ter", "hgvsWellDefined": "ENSP00000402723.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756238", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000449590.6:c.463G>T" }, "RefSeq": { "hgvs": "NM_000316.3:c.463G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402723.1:p.Glu155Ter" }, "RefSeq": { "hgvs": "NP_000307.1:p.Glu155Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000313049.9:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000321999.4:p.Glu155Ter", "hgvsWellDefined": "ENSP00000321999.4:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256758" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000418619.5:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000411424.1:p.Glu155Ter", "hgvsWellDefined": "ENSP00000411424.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285487" }, { "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "G", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000427125.6:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000400977.2:p.Glu155Ter", "hgvsWellDefined": "ENSP00000400977.2:p.Glu155_Thr527del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289543" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000428220.1:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000389811.1:p.Glu155Ter", "hgvsWellDefined": "ENSP00000389811.1:p.Glu155_Thr333delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyAlaGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290091" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000430002.6:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000413774.2:p.Glu155Ter", "hgvsWellDefined": "ENSP00000413774.2:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290935" }, { "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000449590.5:c.463G>T" ], "proteinEffect": { "hgvs": "ENSP00000402723.1:p.Glu155Ter", "hgvsWellDefined": "ENSP00000402723.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300290" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "ENST00000490109.1:n.483G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328022" }, { "@id": "http://reg.genome.network/allele/PA123433", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "NM_000316.2:c.463G>T" ], "proteinEffect": { "hgvs": "NP_000307.1:p.Glu155Ter", "hgvsWellDefined": "NP_000307.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006380" }, { "@id": "http://reg.genome.network/allele/PA915995787", "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "NM_001184744.1:c.463G>T" ], "proteinEffect": { "hgvs": "NP_001171673.1:p.Glu155Ter", "hgvsWellDefined": "NP_001171673.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015949" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_005265344.2:c.370G>T" ], "proteinEffect": { "hgvs": "XP_005265401.1:p.Glu124Ter", "hgvsWellDefined": "XP_005265401.1:p.Glu124_Met562delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064588" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "G", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_011533967.1:c.502G>T" ], "proteinEffect": { "hgvs": "XP_011532269.1:p.Glu168Ter", "hgvsWellDefined": "XP_011532269.1:p.Glu168_Met606delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100985" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "G", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_011533968.1:c.484G>T" ], "proteinEffect": { "hgvs": "XP_011532270.1:p.Glu162Ter", "hgvsWellDefined": "XP_011532270.1:p.Glu162_Met600delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100986" }, { "coordinates": [ { "allele": "T", "end": 2463, "referenceAllele": "G", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_005265344.3:c.370G>T" ], "proteinEffect": { "hgvs": "XP_005265401.1:p.Glu124Ter", "hgvsWellDefined": "XP_005265401.1:p.Glu124_Met562delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536036" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_011533967.3:c.502G>T" ], "proteinEffect": { "hgvs": "XP_011532269.1:p.Glu168Ter", "hgvsWellDefined": "XP_011532269.1:p.Glu168_Met606delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551445" }, { "coordinates": [ { "allele": "T", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_011533968.2:c.484G>T" ], "proteinEffect": { "hgvs": "XP_011532270.1:p.Glu162Ter", "hgvsWellDefined": "XP_011532270.1:p.Glu162_Met600delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551446" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "G", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_017006932.2:c.502G>T" ], "proteinEffect": { "hgvs": "XP_016862421.1:p.Glu168Ter", "hgvsWellDefined": "XP_016862421.1:p.Glu168_Met606delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561821" }, { "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_017006933.1:c.463G>T" ], "proteinEffect": { "hgvs": "XP_016862422.1:p.Glu155Ter", "hgvsWellDefined": "XP_016862422.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561822" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "G", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "XM_017006934.1:c.502G>T" ], "proteinEffect": { "hgvs": "XP_016862423.1:p.Glu168Ter", "hgvsWellDefined": "XP_016862423.1:p.Glu168_Val516delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgCysSerAsnProArgTrpCysSerCysProSerLeuAlaSerThrThrLeuSerSerTrpProHisHisThrProArgSerGlnGlyArgSerGlyLysSerArgCysThrMetArgCysSerSerThrProSerArgAspPheLeuSerGlnSerTyrThrValSerAlaMetAlaArgTyrLysLeuArgSerArgAsnLeuGlyAlaAlaGlyHisTrpHisTrpThrSerSerGluArgHisAlaAlaGlyAlaAlaAlaIleAlaThrAlaProTrpCysProThrGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561823" }, { "@id": "http://reg.genome.network/allele/PA123433", "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN009608", "geneNCBI_id": 5745, "geneSymbol": "PTH1R", "hgvs": [ "NM_000316.3:c.463G>T" ], "proteinEffect": { "hgvs": "NP_000307.1:p.Glu155Ter", "hgvsWellDefined": "NP_000307.1:p.Glu155_Met593delinsLeuValProGlyHisAsnArgThrTrpAlaAsnTyrSerGluCysValLysPheLeuThrAsnGluThrArgGluArgGluValPheAspArgLeuGlyMetIleTyrThrValGlyTyrSerValSerLeuAlaSerLeuThrValAlaValLeuIleLeuAlaTyrPheArgArgLeuHisCysThrArgAsnTyrIleHisMetHisLeuPheLeuSerPheMetLeuArgAlaValSerIlePheValLysAspAlaValLeuTyrSerGlyAlaThrLeuAspGluAlaGluArgLeuThrGluGluGluLeuArgAlaIleAlaGlnAlaProProProProAlaThrAlaAlaAlaGlyTyrAlaGlyCysArgValAlaValThrPhePheLeuTyrPheLeuAlaThrAsnTyrTyrTrpIleLeuValGluGlyLeuTyrLeuHisSerLeuIlePheMetAlaPhePheSerGluLysLysTyrLeuTrpGlyPheThrValPheGlyTrpGlyLeuProAlaValPheValAlaValTrpValSerValArgAlaThrLeuAlaAsnThrGlyCysTrpAspLeuSerSerGlyAsnLysLysTrpIleIleGlnValProIleLeuAlaSerIleValLeuAsnPheIleLeuPheIleAsnIleValArgValLeuAlaThrLysLeuArgGluThrAsnAlaGlyArgCysAspThrArgGlnGlnTyrArgLysLeuLeuLysSerThrLeuValLeuMetProLeuPheGlyValHisTyrIleValPheMetAlaThrProTyrThrGluValSerGlyThrLeuTrpGlnValGlnMetHisTyrGluMetLeuPheAsnSerPheGlnGlyPhePheValAlaIleIleTyrCysPheCysAsnGlyGluValGlnAlaGluIleLysLysSerTrpSerArgTrpThrLeuAlaLeuAspPheLysArgLysAlaArgSerGlySerSerSerTyrSerTyrGlyProMetValSerHisThrSerValThrAsnValGlyProArgValGlyLeuGlyLeuProLeuSerProArgLeuLeuProThrAlaThrThrAsnGlyHisProGlnLeuProGlyHisAlaLysProGlyThrProAlaLeuGluThrLeuGluThrThrProProAlaMetAlaAlaProLysAspAspGlyPheLeuAsnGlySerCysSerGlyLeuAspGluGluAlaSerGlyProGluArgProProAlaLeuLeuGlnGluGluTrpGluThrValMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662399", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000449590.6:c.463G>T" }, "RefSeq": { "hgvs": "NM_000316.3:c.463G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402723.1:p.Glu155Ter" }, "RefSeq": { "hgvs": "NP_000307.1:p.Glu155Ter" } } } } ], "type": "nucleotide" }