{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374590184", "communityStandardTitle": [ "NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015134[alleleid]", "alleleId": 1015134, "preferredName": "NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027381", "RCV": [ "RCV001644994", "RCV003770808" ], "variationId": 1027381 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.117054425C>T?assembly=hg19", "id": "chr9:g.117054425C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.114292145C>T?assembly=hg38", "id": "chr9:g.114292145C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1289391715", "rs": 1289391715 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-117054425-C-T?dataset=gnomad_r2_1", "id": "9-117054425-C-T", "variant": "9:117054425 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114292145-C-T?dataset=gnomad_r3", "id": "9-114292145-C-T", "variant": "9:114292145 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-114292145-C-T?dataset=gnomad_r4", "id": "9-114292145-C-T", "variant": "9:114292145 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 114292145, "referenceAllele": "C", "start": 114292144 } ], "hgvs": [ "NC_000009.12:g.114292145C>T", "CM000671.2:g.114292145C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 117054425, "referenceAllele": "C", "start": 117054424 } ], "hgvs": [ "NC_000009.11:g.117054425C>T", "CM000671.1:g.117054425C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 116094246, "referenceAllele": "C", "start": 116094245 } ], "hgvs": [ "NC_000009.10:g.116094246C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 141601, "referenceAllele": "C", "start": 141600 } ], "hgvs": [ "NG_034260.1:g.141601C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005834" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4933, "referenceAllele": "C", "start": 4932 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000356083.8:c.4519C>T" ], "proteinEffect": { "hgvs": "ENSP00000348385.3:p.Arg1507Ter", "hgvsWellDefined": "ENSP00000348385.3:p.Arg1507_Leu1860delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748746", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.4519C>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.4519C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Arg1507Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Arg1507Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4910, "referenceAllele": "C", "start": 4909 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000356083.7:c.4519C>T" ], "proteinEffect": { "hgvs": "ENSP00000348385.3:p.Arg1507Ter", "hgvsWellDefined": "ENSP00000348385.3:p.Arg1507_Leu1860delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263640" }, { "coordinates": [ { "allele": "T", "end": 3412, "referenceAllele": "C", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "ENST00000494090.6:c.3412C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331108" }, { "@id": "http://reg.genome.network/allele/PA2499294197", "coordinates": [ { "allele": "T", "end": 4925, "referenceAllele": "C", "start": 4924 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "NM_032888.3:c.4519C>T" ], "proteinEffect": { "hgvs": "NP_116277.2:p.Arg1507Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS039386" }, { "coordinates": [ { "allele": "T", "end": 4939, "referenceAllele": "C", "start": 4938 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717308.2:c.4465C>T" ], "proteinEffect": { "hgvs": "XP_006717371.1:p.Arg1489Ter", "hgvsWellDefined": "XP_006717371.1:p.Arg1489_Leu1842delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072110" }, { "coordinates": [ { "allele": "T", "end": 2289, "referenceAllele": "C", "start": 2288 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717310.2:c.2200C>T" ], "proteinEffect": { "hgvs": "XP_006717373.1:p.Arg734Ter", "hgvsWellDefined": "XP_006717373.1:p.Arg734_Leu1087delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072111" }, { "coordinates": [ { "allele": "T", "end": 4543, "referenceAllele": "C", "start": 4542 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519138.1:c.4513C>T" ], "proteinEffect": { "hgvs": "XP_011517440.1:p.Arg1505Ter", "hgvsWellDefined": "XP_011517440.1:p.Arg1505_Leu1858delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086311" }, { "coordinates": [ { "allele": "T", "end": 4521, "referenceAllele": "C", "start": 4520 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519139.1:c.4495C>T" ], "proteinEffect": { "hgvs": "XP_011517441.1:p.Arg1499Ter", "hgvsWellDefined": "XP_011517441.1:p.Arg1499_Leu1852delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086312" }, { "coordinates": [ { "allele": "T", "end": 4939, "referenceAllele": "C", "start": 4938 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519140.1:c.4465C>T" ], "proteinEffect": { "hgvs": "XP_011517442.1:p.Arg1489Ter", "hgvsWellDefined": "XP_011517442.1:p.Arg1489_Leu1842delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086313" }, { "coordinates": [ { "allele": "T", "end": 4994, "referenceAllele": "C", "start": 4993 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519141.1:c.4519C>T" ], "proteinEffect": { "hgvs": "XP_011517443.1:p.Arg1507Ter", "hgvsWellDefined": "XP_011517443.1:p.Arg1507_Gly1717delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspAlaValThrGluProHisAsnIleProArgSerAlaCysTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086314" }, { "coordinates": [ { "allele": "T", "end": 2139, "referenceAllele": "C", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519145.1:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_011517447.1:p.Arg696Ter", "hgvsWellDefined": "XP_011517447.1:p.Arg696_Leu1049delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086318" }, { "coordinates": [ { "allele": "T", "end": 4995, "referenceAllele": "C", "start": 4994 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_929860.1:n.4995C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125989" }, { "coordinates": [ { "allele": "T", "end": 5066, "referenceAllele": "C", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_929861.1:n.5066C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125990" }, { "coordinates": [ { "allele": "T", "end": 2738, "referenceAllele": "C", "start": 2737 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_006717310.3:c.2200C>T" ], "proteinEffect": { "hgvs": "XP_006717373.1:p.Arg734Ter", "hgvsWellDefined": "XP_006717373.1:p.Arg734_Leu1087delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539392" }, { "coordinates": [ { "allele": "T", "end": 4557, "referenceAllele": "C", "start": 4556 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519138.2:c.4513C>T" ], "proteinEffect": { "hgvs": "XP_011517440.1:p.Arg1505Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS545239" }, { "coordinates": [ { "allele": "T", "end": 2168, "referenceAllele": "C", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XM_011519145.3:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_011517447.1:p.Arg696Ter", "hgvsWellDefined": "XP_011517447.1:p.Arg696_Leu1049delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545243" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "C", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_001746405.1:n.5067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594731" }, { "coordinates": [ { "allele": "T", "end": 4996, "referenceAllele": "C", "start": 4995 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_929860.3:n.4996C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609324" }, { "coordinates": [ { "allele": "T", "end": 5067, "referenceAllele": "C", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "XR_929861.2:n.5067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609325" }, { "@id": "http://reg.genome.network/allele/PA2499294197", "coordinates": [ { "allele": "T", "end": 4933, "referenceAllele": "C", "start": 4932 } ], "gene": "http://reg.genome.network/gene/GN022986", "geneNCBI_id": 85301, "geneSymbol": "COL27A1", "hgvs": [ "NM_032888.4:c.4519C>T" ], "proteinEffect": { "hgvs": "NP_116277.2:p.Arg1507Ter", "hgvsWellDefined": "NP_116277.2:p.Arg1507_Leu1860delinsGlyThrGluGlyArgThrGlyLeuProGlyAsnGlnGlyGluProGlySerLysGlyGlnProGlyAspSerGlyGluMetGlyPheProGlyMetAlaGlyLeuPheGlyProLysGlyProProGlyAspIleGlyPheLysGlyIleGlnGlyProArgGlyProProGlyLeuMetGlyLysGluGlyIleValGlyProLeuGlyIleLeuGlyProSerGlyLeuProGlyProLysGlyAspLysGlySerArgGlyAspTrpGlyLeuGlnGlyProArgGlyProProGlyProArgGlyArgProGlyProProGlyProProGlyGlyProIleGlnLeuGlnGlnAspAspLeuGlyAlaAlaPheGlnThrTrpMetAspThrSerGlyAlaLeuArgProGluSerTyrSerTyrProAspArgLeuValLeuAspGlnGlyGlyGluIlePheLysThrLeuHisTyrLeuSerAsnLeuIleGlnSerIleLysThrProLeuGlyThrLysGluAsnProAlaArgValCysArgAspLeuMetAspCysGluGlnLysMetValAspGlyThrTyrTrpValAspProAsnLeuGlyCysSerSerAspThrIleGluValSerCysAsnPheThrHisGlyGlyGlnThrCysLeuLysProIleThrAlaSerLysValGluPheAlaIleSerArgValGlnMetAsnPheLeuHisLeuLeuSerSerGluValThrGlnHisIleThrIleHisCysLeuAsnMetThrValTrpGlnGluGlyThrGlyGlnThrProAlaLysGlnAlaValArgPheArgAlaTrpAsnGlyGlnIlePheGluAlaGlyGlyGlnPheArgProGluValSerMetAspGlyCysLysValGlnAspGlyArgTrpHisGlnThrLeuPheThrPheArgThrGlnAspProGlnGlnLeuProIleIleSerValAspAsnLeuProProAlaSerSerGlyLysGlnTyrArgLeuGluValGlyProAlaCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356083.8:c.4519C>T" }, "RefSeq": { "hgvs": "NM_032888.4:c.4519C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348385.3:p.Arg1507Ter" }, "RefSeq": { "hgvs": "NP_116277.2:p.Arg1507Ter" } } } } ], "type": "nucleotide" }