{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10378248", "communityStandardTitle": [ "NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493245[alleleid]", "alleleId": 493245, "preferredName": "NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501821", "RCV": [ "RCV000591545", "RCV000694041", "RCV001834905", "RCV002395538", "RCV002498865" ], "variationId": 501821 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-31747823-C-G", "id": "X-31747823-C-G", "variant": "X:31747823 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31747823C>G?assembly=hg19", "id": "chrX:g.31747823C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31729706C>G?assembly=hg38", "id": "chrX:g.31729706C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771509836", "rs": 771509836 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31747823-C-G?dataset=gnomad_r2_1", "id": "X-31747823-C-G", "variant": "X:31747823 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-31729706-C-G?dataset=gnomad_r4", "id": "X-31729706-C-G", "variant": "X:31729706 C / G" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 31729706, "referenceAllele": "C", "start": 31729705 } ], "hgvs": [ "NC_000023.11:g.31729706C>G", "CM000685.2:g.31729706C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 31747823, "referenceAllele": "C", "start": 31747822 } ], "hgvs": [ "NC_000023.10:g.31747823C>G", "CM000685.1:g.31747823C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 31657744, "referenceAllele": "C", "start": 31657743 } ], "hgvs": [ "NC_000023.9:g.31657744C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 1614904, "referenceAllele": "G", "start": 1614903 } ], "hgvs": [ "NG_012232.1:g.1614904G>C", "LRG_199:g.1614904G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2431, "referenceAllele": "G", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.2431G>C" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Glu811Gln", "hgvsWellDefined": "ENSP00000350765.3:p.Glu811Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Glu69Gln", "hgvsWellDefined": "ENSP00000508124.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683117.1:n.1246G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828102" }, { "coordinates": [ { "allele": "C", "end": 1125, "endIntronDirection": "+", "endIntronOffset": 44254, "referenceAllele": "G", "start": 1125, "startIntronDirection": "+", "startIntronOffset": 44253 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683450.1:n.1125+44254G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828427" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683851.1:n.1246G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828818" }, { "coordinates": [ { "allele": "C", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.1077G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Glu69Gln", "hgvsWellDefined": "ENSP00000508037.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "C", "end": 7822, "referenceAllele": "G", "start": 7821 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.7585G>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu2529Gln", "hgvsWellDefined": "ENSP00000354923.3:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.7585G>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.7585G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu2529Gln" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu2529Gln" } } } }, { "coordinates": [ { "allele": "C", "end": 3733, "referenceAllele": "G", "start": 3732 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.3553G>C" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Glu1185Gln", "hgvsWellDefined": "ENSP00000479270.2:p.Glu1185Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Glu69Gln", "hgvsWellDefined": "ENSP00000478150.2:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Glu69Gln", "hgvsWellDefined": "ENSP00000506386.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681646.1:n.1246G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS781252" }, { "coordinates": [ { "allele": "C", "end": 714, "referenceAllele": "G", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681839.1:c.574G>C" ], "proteinEffect": { "hgvs": "ENSP00000505228.1:p.Glu192Gln", "hgvsWellDefined": "ENSP00000505228.1:p.Glu192Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS781441" }, { "coordinates": [ { "allele": "C", "end": 7792, "referenceAllele": "G", "start": 7791 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.7585G>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu2529Gln", "hgvsWellDefined": "ENSP00000354923.3:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "C", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.673G>C" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Glu225Gln", "hgvsWellDefined": "ENSP00000350765.2:p.Glu225Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Glu69Gln", "hgvsWellDefined": "ENSP00000352894.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "C", "end": 7768, "referenceAllele": "G", "start": 7767 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.7573G>C" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Glu2525Gln", "hgvsWellDefined": "ENSP00000367948.2:p.Glu2525Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Glu69Gln", "hgvsWellDefined": "ENSP00000367979.3:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "C", "end": 342, "referenceAllele": "G", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000471779.1:c.342G>C" ], "proteinEffect": { "hgvs": "ENSP00000417075.1:n.342G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS313901" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Glu69Gln", "hgvsWellDefined": "ENSP00000417123.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.205G>C" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Glu69Gln", "hgvsWellDefined": "ENSP00000444119.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "C", "end": 7570, "referenceAllele": "G", "start": 7569 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.7570G>C" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Glu2524Gln", "hgvsWellDefined": "ENSP00000479270.1:p.Glu2524Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "C", "end": 7582, "referenceAllele": "G", "start": 7581 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.7582G>C" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Glu2528Gln", "hgvsWellDefined": "ENSP00000478150.1:p.Glu2528Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "C", "end": 7905, "referenceAllele": "G", "start": 7904 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.7561G>C" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Glu2521Gln", "hgvsWellDefined": "NP_000100.2:p.Glu2521Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA658813294", "coordinates": [ { "allele": "C", "end": 7829, "referenceAllele": "G", "start": 7828 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.7585G>C", "LRG_199t1:c.7585G>C" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Glu2529Gln", "hgvsWellDefined": "NP_003997.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829493040", "coordinates": [ { "allele": "C", "end": 7836, "referenceAllele": "G", "start": 7835 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.7573G>C" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Glu2525Gln", "hgvsWellDefined": "NP_004000.1:p.Glu2525Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829498291", "coordinates": [ { "allele": "C", "end": 7919, "referenceAllele": "G", "start": 7918 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.7216G>C" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Glu2406Gln", "hgvsWellDefined": "NP_004001.1:p.Glu2406Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "C", "end": 3607, "referenceAllele": "G", "start": 3606 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.3562G>C" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Glu1188Gln", "hgvsWellDefined": "NP_004002.2:p.Glu1188Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "C", "end": 3750, "referenceAllele": "G", "start": 3749 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.3553G>C" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Glu1185Gln", "hgvsWellDefined": "NP_004003.1:p.Glu1185Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Glu69Gln", "hgvsWellDefined": "NP_004004.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Glu69Gln", "hgvsWellDefined": "NP_004011.2:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Glu69Gln", "hgvsWellDefined": "NP_004012.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Glu69Gln", "hgvsWellDefined": "NP_004013.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Glu69Gln", "hgvsWellDefined": "NP_004014.1:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724531.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "C", "end": 7664, "referenceAllele": "G", "start": 7663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.7561G>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu2521Gln", "hgvsWellDefined": "XP_006724532.1:p.Glu2521Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724533.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724534.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "C", "end": 7653, "referenceAllele": "G", "start": 7652 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.7456G>C" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Glu2486Gln", "hgvsWellDefined": "XP_006724535.1:p.Glu2486Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "C", "end": 7644, "referenceAllele": "G", "start": 7643 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.7447G>C" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Glu2483Gln", "hgvsWellDefined": "XP_006724536.1:p.Glu2483Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724537.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724538.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "C", "end": 7659, "referenceAllele": "G", "start": 7658 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.7462G>C" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Glu2488Gln", "hgvsWellDefined": "XP_011543769.1:p.Glu2488Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu2529Gln", "hgvsWellDefined": "XP_011543770.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "C", "end": 7756, "referenceAllele": "G", "start": 7755 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.7561G>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu2521Gln", "hgvsWellDefined": "XP_006724532.1:p.Glu2521Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724533.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu2529Gln", "hgvsWellDefined": "XP_006724537.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu2529Gln", "hgvsWellDefined": "XP_011543770.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "C", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.7585G>C" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Glu2529Gln", "hgvsWellDefined": "XP_016884817.1:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "C", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.1759G>C" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Glu587Gln", "hgvsWellDefined": "XP_016884820.1:p.Glu587Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "@id": "http://reg.genome.network/allele/PA2825074042", "coordinates": [ { "allele": "C", "end": 7684, "referenceAllele": "G", "start": 7683 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.7561G>C" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu2521Gln", "hgvsWellDefined": "NP_000100.3:p.Glu2521Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829486444", "coordinates": [ { "allele": "C", "end": 7822, "referenceAllele": "G", "start": 7821 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.7585G>C" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu2529Gln", "hgvsWellDefined": "NP_003997.2:p.Glu2529Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.7585G>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.7585G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu2529Gln" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu2529Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2829500033", "coordinates": [ { "allele": "C", "end": 3581, "referenceAllele": "G", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.3562G>C" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Glu1188Gln", "hgvsWellDefined": "NP_004002.3:p.Glu1188Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829502624", "coordinates": [ { "allele": "C", "end": 3724, "referenceAllele": "G", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.3553G>C" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Glu1185Gln", "hgvsWellDefined": "NP_004003.2:p.Glu1185Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "@id": "http://reg.genome.network/allele/PA2829509339", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Glu69Gln", "hgvsWellDefined": "NP_004012.2:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "@id": "http://reg.genome.network/allele/PA916002517", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Glu69Gln", "hgvsWellDefined": "NP_004014.2:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829503834", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Glu69Gln", "hgvsWellDefined": "NP_004004.2:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829508209", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Glu69Gln", "hgvsWellDefined": "NP_004011.3:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "@id": "http://reg.genome.network/allele/PA2829510520", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.205G>C" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Glu69Gln", "hgvsWellDefined": "NP_004013.2:p.Glu69Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }