{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10379249", "communityStandardTitle": [ "NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849982[alleleid]", "alleleId": 849982, "preferredName": "NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/861572", "RCV": [ "RCV001068128", "RCV001827446", "RCV001811639", "RCV002339338" ], "variationId": 861572 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-32472834-C-G", "id": "X-32472834-C-G", "variant": "X:32472834 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32472834C>G?assembly=hg19", "id": "chrX:g.32472834C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32454717C>G?assembly=hg38", "id": "chrX:g.32454717C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374993642", "rs": 374993642 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32472834-C-G?dataset=gnomad_r2_1", "id": "X-32472834-C-G", "variant": "X:32472834 C / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32454717-C-G?dataset=gnomad_r3", "id": "X-32454717-C-G", "variant": "X:32454717 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32454717-C-G?dataset=gnomad_r4", "id": "X-32454717-C-G", "variant": "X:32454717 C / G" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32454717, "referenceAllele": "C", "start": 32454716 } ], "hgvs": [ "NC_000023.11:g.32454717C>G", "CM000685.2:g.32454717C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32472834, "referenceAllele": "C", "start": 32472833 } ], "hgvs": [ "NC_000023.10:g.32472834C>G", "CM000685.1:g.32472834C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32382755, "referenceAllele": "C", "start": 32382754 } ], "hgvs": [ "NC_000023.9:g.32382755C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 889893, "referenceAllele": "G", "start": 889892 } ], "hgvs": [ "NG_012232.1:g.889893G>C", "LRG_199:g.889893G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 3755, "referenceAllele": "G", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682899.1:n.3755G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827887" }, { "coordinates": [ { "allele": "C", "end": 3785, "referenceAllele": "G", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.3548G>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Arg1183Thr", "hgvsWellDefined": "ENSP00000354923.3:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.3548G>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.3548G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Arg1183Thr" }, "RefSeq": { "hgvs": "NP_003997.2:p.Arg1183Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 3755, "referenceAllele": "G", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.3548G>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Arg1183Thr", "hgvsWellDefined": "ENSP00000354923.3:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "C", "end": 3731, "referenceAllele": "G", "start": 3730 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.3536G>C" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Arg1179Thr", "hgvsWellDefined": "ENSP00000367948.2:p.Arg1179Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "C", "end": 93, "endIntronDirection": "-", "endIntronOffset": 89517, "referenceAllele": "G", "start": 93, "startIntronDirection": "-", "startIntronOffset": 89518 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000420596.5:c.94-89518G>C" ], "proteinEffect": { "hgvs": "ENSP00000399897.1:n.94-89518G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS286388" }, { "coordinates": [ { "allele": "C", "end": 93, "endIntronDirection": "-", "endIntronOffset": 90006, "referenceAllele": "G", "start": 93, "startIntronDirection": "-", "startIntronOffset": 90007 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000448370.5:c.94-90007G>C" ], "proteinEffect": { "hgvs": "ENSP00000388559.1:n.94-90007G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS299700" }, { "coordinates": [ { "allele": "C", "end": 335, "endIntronDirection": "-", "endIntronOffset": 237653, "referenceAllele": "G", "start": 335, "startIntronDirection": "-", "startIntronOffset": 237654 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.336-237654G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "C", "end": 3536, "referenceAllele": "G", "start": 3535 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.3536G>C" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Arg1179Thr", "hgvsWellDefined": "ENSP00000479270.1:p.Arg1179Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "C", "end": 3548, "referenceAllele": "G", "start": 3547 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.3548G>C" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Arg1183Thr", "hgvsWellDefined": "ENSP00000478150.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "C", "end": 3868, "referenceAllele": "G", "start": 3867 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.3524G>C" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Arg1175Thr", "hgvsWellDefined": "NP_000100.2:p.Arg1175Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "coordinates": [ { "allele": "C", "end": 3792, "referenceAllele": "G", "start": 3791 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.3548G>C", "LRG_199t1:c.3548G>C" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Arg1183Thr", "hgvsWellDefined": "NP_003997.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829490930", "coordinates": [ { "allele": "C", "end": 3799, "referenceAllele": "G", "start": 3798 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.3536G>C" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Arg1179Thr", "hgvsWellDefined": "NP_004000.1:p.Arg1179Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829496596", "coordinates": [ { "allele": "C", "end": 3882, "referenceAllele": "G", "start": 3881 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.3179G>C" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Arg1060Thr", "hgvsWellDefined": "NP_004001.1:p.Arg1060Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724531.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "C", "end": 3627, "referenceAllele": "G", "start": 3626 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.3524G>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Arg1175Thr", "hgvsWellDefined": "XP_006724532.1:p.Arg1175Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724533.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724534.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "C", "end": 3616, "referenceAllele": "G", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.3419G>C" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Arg1140Thr", "hgvsWellDefined": "XP_006724535.1:p.Arg1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724536.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724537.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724538.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Arg1183Thr", "hgvsWellDefined": "XP_011543769.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Arg1183Thr", "hgvsWellDefined": "XP_011543770.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545469.1:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_011543771.1:p.Arg1183Thr", "hgvsWellDefined": "XP_011543771.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS112369" }, { "coordinates": [ { "allele": "C", "end": 3719, "referenceAllele": "G", "start": 3718 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.3524G>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Arg1175Thr", "hgvsWellDefined": "XP_006724532.1:p.Arg1175Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724533.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Arg1183Thr", "hgvsWellDefined": "XP_006724537.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Arg1183Thr", "hgvsWellDefined": "XP_011543770.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Arg1183Thr", "hgvsWellDefined": "XP_016884817.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029329.1:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_016884818.1:p.Arg1183Thr", "hgvsWellDefined": "XP_016884818.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "C", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.3548G>C" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Arg1183Thr", "hgvsWellDefined": "XP_016884819.1:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "@id": "http://reg.genome.network/allele/PA2825072348", "coordinates": [ { "allele": "C", "end": 3647, "referenceAllele": "G", "start": 3646 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.3524G>C" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Arg1175Thr", "hgvsWellDefined": "NP_000100.3:p.Arg1175Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA1139719212", "coordinates": [ { "allele": "C", "end": 3785, "referenceAllele": "G", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.3548G>C" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Arg1183Thr", "hgvsWellDefined": "NP_003997.2:p.Arg1183Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.3548G>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.3548G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Arg1183Thr" }, "RefSeq": { "hgvs": "NP_003997.2:p.Arg1183Thr" } } } } ], "type": "nucleotide" }