{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412666958", "communityStandardTitle": [ "NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972434[alleleid]", "alleleId": 972434, "preferredName": "NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984109", "RCV": [ "RCV001264115" ], "variationId": 984109 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32486718G>T?assembly=hg19", "id": "chrX:g.32486718G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32468601G>T?assembly=hg38", "id": "chrX:g.32468601G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398123919", "rs": 398123919 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 32468601, "referenceAllele": "G", "start": 32468600 } ], "hgvs": [ "NC_000023.11:g.32468601G>T", "CM000685.2:g.32468601G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 32486718, "referenceAllele": "G", "start": 32486717 } ], "hgvs": [ "NC_000023.10:g.32486718G>T", "CM000685.1:g.32486718G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 32396639, "referenceAllele": "G", "start": 32396638 } ], "hgvs": [ "NC_000023.9:g.32396639G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 876009, "referenceAllele": "C", "start": 876008 } ], "hgvs": [ "NG_012232.1:g.876009C>A", "LRG_199:g.876009C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3266, "referenceAllele": "C", "start": 3265 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682899.1:n.3266C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827887" }, { "coordinates": [ { "allele": "A", "end": 3296, "referenceAllele": "C", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.3059C>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.3059C>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.3059C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Ser1020Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Ser1020Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3266, "referenceAllele": "C", "start": 3265 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.3059C>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "A", "end": 3242, "referenceAllele": "C", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.3047C>A" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Ser1016Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "A", "end": 93, "endIntronDirection": "-", "endIntronOffset": 103401, "referenceAllele": "C", "start": 93, "startIntronDirection": "-", "startIntronOffset": 103402 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000420596.5:c.94-103402C>A" ], "proteinEffect": { "hgvs": "ENSP00000399897.1:n.94-103402C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS286388" }, { "coordinates": [ { "allele": "A", "end": 93, "endIntronDirection": "-", "endIntronOffset": 103890, "referenceAllele": "C", "start": 93, "startIntronDirection": "-", "startIntronOffset": 103891 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000448370.5:c.94-103891C>A" ], "proteinEffect": { "hgvs": "ENSP00000388559.1:n.94-103891C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS299700" }, { "coordinates": [ { "allele": "A", "end": 335, "endIntronDirection": "-", "endIntronOffset": 251537, "referenceAllele": "C", "start": 335, "startIntronDirection": "-", "startIntronOffset": 251538 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.336-251538C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "A", "end": 3047, "referenceAllele": "C", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.3047C>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Ser1016Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "A", "end": 3059, "referenceAllele": "C", "start": 3058 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.3059C>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "A", "end": 3379, "referenceAllele": "C", "start": 3378 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.3035C>A" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Ser1012Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "coordinates": [ { "allele": "A", "end": 3303, "referenceAllele": "C", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.3059C>A", "LRG_199t1:c.3059C>A" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "coordinates": [ { "allele": "A", "end": 3310, "referenceAllele": "C", "start": 3309 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.3047C>A" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Ser1016Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "coordinates": [ { "allele": "A", "end": 3393, "referenceAllele": "C", "start": 3392 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.2690C>A" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Ser897Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "A", "end": 3138, "referenceAllele": "C", "start": 3137 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.3035C>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Ser1012Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "A", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.2930C>A" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Ser977Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545469.1:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_011543771.1:p.Ser1020Ter", "hgvsWellDefined": "XP_011543771.1:p.Ser1020_Asn1915delinsGluPheGluGluIleGluGlyArgTrpLysLysLeuSerSerGlnLeuValGluHisCysGlnLysLeuGluGluGlnMetAsnLysLeuArgLysIleGlnAsnHisIleGlnThrLeuLysLysTrpMetAlaGluValAspValPheLeuLysGluGluTrpProAlaLeuGlyAspSerGluIleLeuLysLysGlnLeuLysGlnCysArgLeuLeuValSerAspIleGlnThrIleGlnProSerLeuAsnSerValAsnGluGlyGlyGlnLysIleLysAsnGluAlaGluProGluPheAlaSerArgLeuGluThrGluLeuLysGluLeuAsnThrGlnTrpAspHisMetCysGlnGlnValTyrAlaArgLysGluAlaLeuLysGlyGlyLeuGluLysThrValSerLeuGlnLysAspLeuSerGluMetHisGluTrpMetThrGlnAlaGluGluGluTyrLeuGluArgAspPheGluTyrLysThrProAspGluLeuGlnLysAlaValGluGluMetLysArgAlaLysGluGluAlaGlnGlnLysGluAlaLysValLysLeuLeuThrGluSerValAsnSerValIleAlaGlnAlaProProValAlaGlnGluAlaLeuLysLysGluLeuGluThrLeuThrThrAsnTyrGlnTrpLeuCysThrArgLeuAsnGlyLysCysLysThrLeuGluGluValTrpAlaCysTrpHisGluLeuLeuSerTyrLeuGluLysAlaAsnLysTrpLeuAsnGluValGluPheLysLeuLysThrThrGluAsnIleProGlyGlyAlaGluGluIleSerGluValLeuAspSerLeuGluAsnLeuMetArgHisSerGluAspAsnProAsnGlnIleArgIleLeuAlaGlnThrLeuThrAspGlyGlyValMetAspGluLeuIleAsnGluGluLeuGluThrPheAsnSerArgTrpArgGluLeuHisGluGluAlaValArgArgGlnLysLeuLeuGluGlnSerIleGlnSerAlaGlnGluThrGluLysSerLeuHisLeuIleGlnGluSerLeuThrPheIleAspLysGlnLeuAlaAlaTyrIleAlaAspLysValAspAlaAlaGlnMetProGlnGluAlaGlnLysIleGlnSerAspLeuThrSerHisGluIleSerLeuGluGluMetLysLysHisAsnGlnGlyLysGluAlaAlaGlnArgValLeuSerGlnIleAspValAlaGlnLysLysLeuGlnAspValSerMetLysPheArgLeuPheGlnLysProAlaAsnPheGluGlnArgLeuGlnGluSerLysMetIleLeuAspGluValLysMetHisLeuProAlaLeuGluThrLysSerValGluGlnGluValValGlnSerGlnLeuAsnHisCysValAsnLeuTyrLysSerLeuSerGluValLysSerGluValGluMetValIleLysThrGlyArgGlnIleValGlnLysLysGlnThrGluAsnProLysGluLeuAspGluArgValThrAlaLeuLysLeuHisTyrAsnGluLeuGlyAlaLysValThrGluArgLysGlnGlnLeuGluLysCysLeuLysLeuSerArgLysMetArgLysGluMetAsnValLeuThrGluTrpLeuAlaAlaThrAspMetGluLeuThrLysArgSerAlaValGluGlyMetProSerAsnLeuAspSerGluValAlaTrpGlyLysAlaThrGlnLysGluIleGluLysGlnLysValHisLeuLysSerIleThrGluValGlyGluAlaLeuLysThrValLeuGlyLysLysGluThrLeuValGluAspLysLeuSerLeuLeuAsnSerAsnTrpIleAlaValThrSerArgAlaGluGluTrpLeuAsnLeuLeuLeuGluTyrGlnLysHisMetGluThrPheAspGlnAsnValAspHisIleThrLysTrpIleIleGlnAlaAspThrLeuLeuAspGluSerGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112369" }, { "coordinates": [ { "allele": "A", "end": 3230, "referenceAllele": "C", "start": 3229 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.3035C>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Ser1012Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029329.1:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_016884818.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.3059C>A" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "coordinates": [ { "allele": "A", "end": 3158, "referenceAllele": "C", "start": 3157 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.3035C>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Ser1012Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "A", "end": 3296, "referenceAllele": "C", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.3059C>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Ser1020Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.3059C>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.3059C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Ser1020Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Ser1020Ter" } } } } ], "type": "nucleotide" }