{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412663108", "communityStandardTitle": [ "NM_004006.3(DMD):c.4467A>T (p.Glu1489Asp)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32407669T>A?assembly=hg19", "id": "chrX:g.32407669T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32389552T>A?assembly=hg38", "id": "chrX:g.32389552T>A" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 32389552, "referenceAllele": "T", "start": 32389551 } ], "hgvs": [ "NC_000023.11:g.32389552T>A", "CM000685.2:g.32389552T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 32407669, "referenceAllele": "T", "start": 32407668 } ], "hgvs": [ "NC_000023.10:g.32407669T>A", "CM000685.1:g.32407669T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 32317590, "referenceAllele": "T", "start": 32317589 } ], "hgvs": [ "NC_000023.9:g.32317590T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 955058, "referenceAllele": "A", "start": 955057 } ], "hgvs": [ "NG_012232.1:g.955058A>T", "LRG_199:g.955058A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4704, "referenceAllele": "A", "start": 4703 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.4467A>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu1489Asp", "hgvsWellDefined": "ENSP00000354923.3:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4467A>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.4467A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu1489Asp" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu1489Asp" } } } }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "A", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.435A>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Glu145Asp", "hgvsWellDefined": "ENSP00000479270.2:p.Glu145Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "T", "end": 4674, "referenceAllele": "A", "start": 4673 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.4467A>T" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu1489Asp", "hgvsWellDefined": "ENSP00000354923.3:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "T", "end": 4650, "referenceAllele": "A", "start": 4649 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.4455A>T" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Glu1485Asp", "hgvsWellDefined": "ENSP00000367948.2:p.Glu1485Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "T", "end": 93, "endIntronDirection": "-", "endIntronOffset": 24352, "referenceAllele": "A", "start": 93, "startIntronDirection": "-", "startIntronOffset": 24353 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000420596.5:c.94-24353A>T" ], "proteinEffect": { "hgvs": "ENSP00000399897.1:n.94-24353A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS286388" }, { "coordinates": [ { "allele": "T", "end": 93, "endIntronDirection": "-", "endIntronOffset": 24841, "referenceAllele": "A", "start": 93, "startIntronDirection": "-", "startIntronOffset": 24842 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000448370.5:c.94-24842A>T" ], "proteinEffect": { "hgvs": "ENSP00000388559.1:n.94-24842A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS299700" }, { "coordinates": [ { "allele": "T", "end": 335, "endIntronDirection": "-", "endIntronOffset": 172488, "referenceAllele": "A", "start": 335, "startIntronDirection": "-", "startIntronOffset": 172489 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.336-172489A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "T", "end": 4455, "referenceAllele": "A", "start": 4454 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.4455A>T" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Glu1485Asp", "hgvsWellDefined": "ENSP00000479270.1:p.Glu1485Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "T", "end": 4467, "referenceAllele": "A", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.4467A>T" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Glu1489Asp", "hgvsWellDefined": "ENSP00000478150.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "T", "end": 4787, "referenceAllele": "A", "start": 4786 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.4443A>T" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Glu1481Asp", "hgvsWellDefined": "NP_000100.2:p.Glu1481Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA658675059", "coordinates": [ { "allele": "T", "end": 4711, "referenceAllele": "A", "start": 4710 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.4467A>T", "LRG_199t1:c.4467A>T" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Glu1489Asp", "hgvsWellDefined": "NP_003997.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829491435", "coordinates": [ { "allele": "T", "end": 4718, "referenceAllele": "A", "start": 4717 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.4455A>T" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Glu1485Asp", "hgvsWellDefined": "NP_004000.1:p.Glu1485Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829497017", "coordinates": [ { "allele": "T", "end": 4801, "referenceAllele": "A", "start": 4800 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.4098A>T" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Glu1366Asp", "hgvsWellDefined": "NP_004001.1:p.Glu1366Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "A", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.444A>T" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Glu148Asp", "hgvsWellDefined": "NP_004002.2:p.Glu148Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "T", "end": 632, "referenceAllele": "A", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.435A>T" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Glu145Asp", "hgvsWellDefined": "NP_004003.1:p.Glu145Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724531.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "T", "end": 4546, "referenceAllele": "A", "start": 4545 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.4443A>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu1481Asp", "hgvsWellDefined": "XP_006724532.1:p.Glu1481Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724533.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724534.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "T", "end": 4535, "referenceAllele": "A", "start": 4534 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.4338A>T" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Glu1446Asp", "hgvsWellDefined": "XP_006724535.1:p.Glu1446Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724536.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724537.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724538.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Glu1489Asp", "hgvsWellDefined": "XP_011543769.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu1489Asp", "hgvsWellDefined": "XP_011543770.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545469.1:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_011543771.1:p.Glu1489Asp", "hgvsWellDefined": "XP_011543771.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112369" }, { "coordinates": [ { "allele": "T", "end": 4638, "referenceAllele": "A", "start": 4637 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.4443A>T" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu1481Asp", "hgvsWellDefined": "XP_006724532.1:p.Glu1481Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724533.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu1489Asp", "hgvsWellDefined": "XP_006724537.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu1489Asp", "hgvsWellDefined": "XP_011543770.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Glu1489Asp", "hgvsWellDefined": "XP_016884817.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029329.1:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_016884818.1:p.Glu1489Asp", "hgvsWellDefined": "XP_016884818.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "T", "end": 4664, "referenceAllele": "A", "start": 4663 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.4467A>T" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Glu1489Asp", "hgvsWellDefined": "XP_016884819.1:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "@id": "http://reg.genome.network/allele/PA2825072768", "coordinates": [ { "allele": "T", "end": 4566, "referenceAllele": "A", "start": 4565 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.4443A>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu1481Asp", "hgvsWellDefined": "NP_000100.3:p.Glu1481Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2829484191", "coordinates": [ { "allele": "T", "end": 4704, "referenceAllele": "A", "start": 4703 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.4467A>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu1489Asp", "hgvsWellDefined": "NP_003997.2:p.Glu1489Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4467A>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.4467A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu1489Asp" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu1489Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA916001473", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "A", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.444A>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Glu148Asp", "hgvsWellDefined": "NP_004002.3:p.Glu148Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "@id": "http://reg.genome.network/allele/PA2829501351", "coordinates": [ { "allele": "T", "end": 606, "referenceAllele": "A", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.435A>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Glu145Asp", "hgvsWellDefined": "NP_004003.2:p.Glu145Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }