{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10378955", "communityStandardTitle": [ "NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=684988[alleleid]", "alleleId": 684988, "preferredName": "NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/696263", "RCV": [ "RCV000862504", "RCV001825715", "RCV003330971" ], "variationId": 696263 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-32407709-A-G", "id": "X-32407709-A-G", "variant": "X:32407709 A / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32407709A>G?assembly=hg19", "id": "chrX:g.32407709A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32389592A>G?assembly=hg38", "id": "chrX:g.32389592A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371646182", "rs": 371646182 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32407709-A-G?dataset=gnomad_r2_1", "id": "X-32407709-A-G", "variant": "X:32407709 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32389592-A-G?dataset=gnomad_r3", "id": "X-32389592-A-G", "variant": "X:32389592 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-32389592-A-G?dataset=gnomad_r4", "id": "X-32389592-A-G", "variant": "X:32389592 A / G" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32389592, "referenceAllele": "A", "start": 32389591 } ], "hgvs": [ "NC_000023.11:g.32389592A>G", "CM000685.2:g.32389592A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32407709, "referenceAllele": "A", "start": 32407708 } ], "hgvs": [ "NC_000023.10:g.32407709A>G", "CM000685.1:g.32407709A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32317630, "referenceAllele": "A", "start": 32317629 } ], "hgvs": [ "NC_000023.9:g.32317630A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 955018, "referenceAllele": "T", "start": 955017 } ], "hgvs": [ "NG_012232.1:g.955018T>C", "LRG_199:g.955018T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 4664, "referenceAllele": "T", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.4427T>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Met1476Thr", "hgvsWellDefined": "ENSP00000354923.3:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4427T>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.4427T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Met1476Thr" }, "RefSeq": { "hgvs": "NP_003997.2:p.Met1476Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 575, "referenceAllele": "T", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.395T>C" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Met132Thr", "hgvsWellDefined": "ENSP00000479270.2:p.Met132Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "C", "end": 4634, "referenceAllele": "T", "start": 4633 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.4427T>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Met1476Thr", "hgvsWellDefined": "ENSP00000354923.3:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "C", "end": 4610, "referenceAllele": "T", "start": 4609 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.4415T>C" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Met1472Thr", "hgvsWellDefined": "ENSP00000367948.2:p.Met1472Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "C", "end": 93, "endIntronDirection": "-", "endIntronOffset": 24392, "referenceAllele": "T", "start": 93, "startIntronDirection": "-", "startIntronOffset": 24393 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000420596.5:c.94-24393T>C" ], "proteinEffect": { "hgvs": "ENSP00000399897.1:n.94-24393T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS286388" }, { "coordinates": [ { "allele": "C", "end": 93, "endIntronDirection": "-", "endIntronOffset": 24881, "referenceAllele": "T", "start": 93, "startIntronDirection": "-", "startIntronOffset": 24882 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000448370.5:c.94-24882T>C" ], "proteinEffect": { "hgvs": "ENSP00000388559.1:n.94-24882T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS299700" }, { "coordinates": [ { "allele": "C", "end": 335, "endIntronDirection": "-", "endIntronOffset": 172528, "referenceAllele": "T", "start": 335, "startIntronDirection": "-", "startIntronOffset": 172529 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.336-172529T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "C", "end": 4415, "referenceAllele": "T", "start": 4414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.4415T>C" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Met1472Thr", "hgvsWellDefined": "ENSP00000479270.1:p.Met1472Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "C", "end": 4427, "referenceAllele": "T", "start": 4426 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.4427T>C" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Met1476Thr", "hgvsWellDefined": "ENSP00000478150.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "C", "end": 4747, "referenceAllele": "T", "start": 4746 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.4403T>C" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Met1468Thr", "hgvsWellDefined": "NP_000100.2:p.Met1468Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA916000874", "coordinates": [ { "allele": "C", "end": 4671, "referenceAllele": "T", "start": 4670 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.4427T>C", "LRG_199t1:c.4427T>C" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Met1476Thr", "hgvsWellDefined": "NP_003997.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829491414", "coordinates": [ { "allele": "C", "end": 4678, "referenceAllele": "T", "start": 4677 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.4415T>C" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Met1472Thr", "hgvsWellDefined": "NP_004000.1:p.Met1472Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829497002", "coordinates": [ { "allele": "C", "end": 4761, "referenceAllele": "T", "start": 4760 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.4058T>C" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Met1353Thr", "hgvsWellDefined": "NP_004001.1:p.Met1353Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "T", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.404T>C" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Met135Thr", "hgvsWellDefined": "NP_004002.2:p.Met135Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.395T>C" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Met132Thr", "hgvsWellDefined": "NP_004003.1:p.Met132Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724531.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "C", "end": 4506, "referenceAllele": "T", "start": 4505 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.4403T>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Met1468Thr", "hgvsWellDefined": "XP_006724532.1:p.Met1468Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724533.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724534.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "C", "end": 4495, "referenceAllele": "T", "start": 4494 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.4298T>C" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Met1433Thr", "hgvsWellDefined": "XP_006724535.1:p.Met1433Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724536.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724537.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724538.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Met1476Thr", "hgvsWellDefined": "XP_011543769.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Met1476Thr", "hgvsWellDefined": "XP_011543770.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545469.1:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_011543771.1:p.Met1476Thr", "hgvsWellDefined": "XP_011543771.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS112369" }, { "coordinates": [ { "allele": "C", "end": 4598, "referenceAllele": "T", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.4403T>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Met1468Thr", "hgvsWellDefined": "XP_006724532.1:p.Met1468Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724533.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Met1476Thr", "hgvsWellDefined": "XP_006724537.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Met1476Thr", "hgvsWellDefined": "XP_011543770.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Met1476Thr", "hgvsWellDefined": "XP_016884817.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029329.1:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_016884818.1:p.Met1476Thr", "hgvsWellDefined": "XP_016884818.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "C", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.4427T>C" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Met1476Thr", "hgvsWellDefined": "XP_016884819.1:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "@id": "http://reg.genome.network/allele/PA2825072755", "coordinates": [ { "allele": "C", "end": 4526, "referenceAllele": "T", "start": 4525 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.4403T>C" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Met1468Thr", "hgvsWellDefined": "NP_000100.3:p.Met1468Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2573083958", "coordinates": [ { "allele": "C", "end": 4664, "referenceAllele": "T", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.4427T>C" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Met1476Thr", "hgvsWellDefined": "NP_003997.2:p.Met1476Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4427T>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.4427T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Met1476Thr" }, "RefSeq": { "hgvs": "NP_003997.2:p.Met1476Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2829499511", "coordinates": [ { "allele": "C", "end": 423, "referenceAllele": "T", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.404T>C" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Met135Thr", "hgvsWellDefined": "NP_004002.3:p.Met135Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829501336", "coordinates": [ { "allele": "C", "end": 566, "referenceAllele": "T", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.395T>C" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Met132Thr", "hgvsWellDefined": "NP_004003.2:p.Met132Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }