{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1705911", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273727[alleleid]", "alleleId": 273727, "preferredName": "NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289490", "RCV": [ "RCV000389310", "RCV000726337", "RCV001271778", "RCV001850449" ], "variationId": 289490 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71778755-C-T", "id": "2-71778755-C-T", "variant": "2:71778755 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71778755C>T?assembly=hg19", "id": "chr2:g.71778755C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71551625C>T?assembly=hg38", "id": "chr2:g.71551625C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767415886", "rs": 767415886 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71778755-C-T?dataset=gnomad_r2_1", "id": "2-71778755-C-T", "variant": "2:71778755 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71551625-C-T?dataset=gnomad_r3", "id": "2-71551625-C-T", "variant": "2:71551625 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71551625-C-T?dataset=gnomad_r4", "id": "2-71551625-C-T", "variant": "2:71551625 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71551625, "referenceAllele": "C", "start": 71551624 } ], "hgvs": [ "NC_000002.12:g.71551625C>T", "CM000664.2:g.71551625C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71778755, "referenceAllele": "C", "start": 71778754 } ], "hgvs": [ "NC_000002.11:g.71778755C>T", "CM000664.1:g.71778755C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71632263, "referenceAllele": "C", "start": 71632262 } ], "hgvs": [ "NC_000002.10:g.71632263C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 103003, "referenceAllele": "C", "start": 103002 } ], "hgvs": [ "NG_008694.1:g.103003C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Arg553Cys", "hgvsWellDefined": "ENSP00000258104.3:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.1657C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.1657C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Arg553Cys" }, "RefSeq": { "hgvs": "NP_003485.1:p.Arg553Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.1711C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Arg571Cys", "hgvsWellDefined": "ENSP00000386881.3:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.1711C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.1711C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Arg571Cys" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Arg571Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 1934, "referenceAllele": "C", "start": 1933 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Arg553Cys", "hgvsWellDefined": "ENSP00000258104.3:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.1660C>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Arg554Cys", "hgvsWellDefined": "ENSP00000377678.2:p.Arg554Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.1660C>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Arg554Cys", "hgvsWellDefined": "ENSP00000386512.1:p.Arg554Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 1985, "referenceAllele": "C", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.1708C>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Arg570Cys", "hgvsWellDefined": "ENSP00000386547.3:p.Arg570Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.1753C>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Arg585Cys", "hgvsWellDefined": "ENSP00000386683.1:p.Arg585Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.1618C>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Arg540Cys", "hgvsWellDefined": "ENSP00000386285.1:p.Arg540Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 1985, "referenceAllele": "C", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.1708C>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Arg570Cys", "hgvsWellDefined": "ENSP00000387137.1:p.Arg570Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.1711C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Arg571Cys", "hgvsWellDefined": "ENSP00000386881.3:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.1711C>T" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Arg571Cys", "hgvsWellDefined": "ENSP00000386617.1:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "T", "end": 2027, "referenceAllele": "C", "start": 2026 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.1750C>T" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Arg584Cys", "hgvsWellDefined": "ENSP00000407046.2:p.Arg584Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "T", "end": 1934, "referenceAllele": "C", "start": 1933 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.1657C>T" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Arg553Cys", "hgvsWellDefined": "ENSP00000398305.2:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825693534", "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.1660C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Arg554Cys", "hgvsWellDefined": "NP_001123927.1:p.Arg554Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747275", "coordinates": [ { "allele": "T", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.1615C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Arg539Cys", "hgvsWellDefined": "NP_001124448.1:p.Arg539Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749536", "coordinates": [ { "allele": "T", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.1615C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Arg539Cys", "hgvsWellDefined": "NP_001124449.1:p.Arg539Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825751809", "coordinates": [ { "allele": "T", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Arg553Cys", "hgvsWellDefined": "NP_001124450.1:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754081", "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.1750C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Arg584Cys", "hgvsWellDefined": "NP_001124451.1:p.Arg584Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825756342", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "C", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Arg570Cys", "hgvsWellDefined": "NP_001124452.1:p.Arg570Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758608", "coordinates": [ { "allele": "T", "end": 2084, "referenceAllele": "C", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Arg570Cys", "hgvsWellDefined": "NP_001124453.1:p.Arg570Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA915973486", "coordinates": [ { "allele": "T", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.1753C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Arg585Cys", "hgvsWellDefined": "NP_001124454.1:p.Arg585Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762515", "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.1660C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Arg554Cys", "hgvsWellDefined": "NP_001124455.1:p.Arg554Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764739", "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Arg540Cys", "hgvsWellDefined": "NP_001124456.1:p.Arg540Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825766980", "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.1711C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Arg571Cys", "hgvsWellDefined": "NP_001124457.1:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769212", "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Arg540Cys", "hgvsWellDefined": "NP_001124458.1:p.Arg540Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA645477587", "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.1711C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Arg571Cys", "hgvsWellDefined": "NP_001124459.1:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829466496", "coordinates": [ { "allele": "T", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Arg553Cys", "hgvsWellDefined": "NP_003485.1:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 1893, "referenceAllele": "C", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.1753C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Arg585Cys", "hgvsWellDefined": "XP_005264641.1:p.Arg585Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 2630, "referenceAllele": "C", "start": 2629 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Arg584Cys", "hgvsWellDefined": "XP_005264642.1:p.Arg584Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.1753C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Arg585Cys", "hgvsWellDefined": "XP_005264641.1:p.Arg585Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 2595, "referenceAllele": "C", "start": 2594 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.1750C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Arg584Cys", "hgvsWellDefined": "XP_005264642.1:p.Arg584Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 1911, "referenceAllele": "C", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.1911C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA645477587", "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.1711C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Arg571Cys", "hgvsWellDefined": "NP_001124459.1:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.1711C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.1711C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Arg571Cys" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Arg571Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825693534", "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.1660C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Arg554Cys", "hgvsWellDefined": "NP_001123927.1:p.Arg554Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747275", "coordinates": [ { "allele": "T", "end": 2053, "referenceAllele": "C", "start": 2052 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.1615C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Arg539Cys", "hgvsWellDefined": "NP_001124448.1:p.Arg539Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749536", "coordinates": [ { "allele": "T", "end": 2053, "referenceAllele": "C", "start": 2052 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.1615C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Arg539Cys", "hgvsWellDefined": "NP_001124449.1:p.Arg539Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825751809", "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Arg553Cys", "hgvsWellDefined": "NP_001124450.1:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754081", "coordinates": [ { "allele": "T", "end": 2188, "referenceAllele": "C", "start": 2187 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.1750C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Arg584Cys", "hgvsWellDefined": "NP_001124451.1:p.Arg584Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825756342", "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Arg570Cys", "hgvsWellDefined": "NP_001124452.1:p.Arg570Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758608", "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Arg570Cys", "hgvsWellDefined": "NP_001124453.1:p.Arg570Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA915973486", "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.1753C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Arg585Cys", "hgvsWellDefined": "NP_001124454.1:p.Arg585Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762515", "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.1660C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Arg554Cys", "hgvsWellDefined": "NP_001124455.1:p.Arg554Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764739", "coordinates": [ { "allele": "T", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Arg540Cys", "hgvsWellDefined": "NP_001124456.1:p.Arg540Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825766980", "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.1711C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Arg571Cys", "hgvsWellDefined": "NP_001124457.1:p.Arg571Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769212", "coordinates": [ { "allele": "T", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.1618C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Arg540Cys", "hgvsWellDefined": "NP_001124458.1:p.Arg540Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829466496", "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.1657C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Arg553Cys", "hgvsWellDefined": "NP_003485.1:p.Arg553Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.1657C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.1657C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Arg553Cys" }, "RefSeq": { "hgvs": "NP_003485.1:p.Arg553Cys" } } } } ], "type": "nucleotide" }