{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1705910", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1041656[alleleid]", "alleleId": 1041656, "preferredName": "NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1055933", "RCV": [ "RCV001364685", "RCV001826032", "RCV003145621" ], "variationId": 1055933 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71778746-G-A", "id": "2-71778746-G-A", "variant": "2:71778746 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71778746G>A?assembly=hg19", "id": "chr2:g.71778746G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71551616G>A?assembly=hg38", "id": "chr2:g.71551616G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/771062534", "rs": 771062534 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71778746-G-A?dataset=gnomad_r2_1", "id": "2-71778746-G-A", "variant": "2:71778746 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71551616-G-A?dataset=gnomad_r3", "id": "2-71551616-G-A", "variant": "2:71551616 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71551616-G-A?dataset=gnomad_r4", "id": "2-71551616-G-A", "variant": "2:71551616 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71551616, "referenceAllele": "G", "start": 71551615 } ], "hgvs": [ "NC_000002.12:g.71551616G>A", "CM000664.2:g.71551616G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71778746, "referenceAllele": "G", "start": 71778745 } ], "hgvs": [ "NC_000002.11:g.71778746G>A", "CM000664.1:g.71778746G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71632254, "referenceAllele": "G", "start": 71632253 } ], "hgvs": [ "NC_000002.10:g.71632254G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 102994, "referenceAllele": "G", "start": 102993 } ], "hgvs": [ "NG_008694.1:g.102994G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.1648G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Val550Met", "hgvsWellDefined": "ENSP00000258104.3:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.1648G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.1648G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Val550Met" }, "RefSeq": { "hgvs": "NP_003485.1:p.Val550Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.1702G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Val568Met", "hgvsWellDefined": "ENSP00000386881.3:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.1702G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.1702G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Val568Met" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Val568Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1925, "referenceAllele": "G", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.1648G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Val550Met", "hgvsWellDefined": "ENSP00000258104.3:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "G", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.1651G>A" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Val551Met", "hgvsWellDefined": "ENSP00000377678.2:p.Val551Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "G", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.1651G>A" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Val551Met", "hgvsWellDefined": "ENSP00000386512.1:p.Val551Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "A", "end": 1976, "referenceAllele": "G", "start": 1975 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.1699G>A" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Val567Met", "hgvsWellDefined": "ENSP00000386547.3:p.Val567Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "A", "end": 1885, "referenceAllele": "G", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.1744G>A" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Val582Met", "hgvsWellDefined": "ENSP00000386683.1:p.Val582Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.1609G>A" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Val537Met", "hgvsWellDefined": "ENSP00000386285.1:p.Val537Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "A", "end": 1976, "referenceAllele": "G", "start": 1975 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.1699G>A" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Val567Met", "hgvsWellDefined": "ENSP00000387137.1:p.Val567Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "G", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.1702G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Val568Met", "hgvsWellDefined": "ENSP00000386881.3:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "G", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.1702G>A" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Val568Met", "hgvsWellDefined": "ENSP00000386617.1:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.1741G>A" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Val581Met", "hgvsWellDefined": "ENSP00000407046.2:p.Val581Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "A", "end": 1925, "referenceAllele": "G", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.1648G>A" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Val550Met", "hgvsWellDefined": "ENSP00000398305.2:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825693531", "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "G", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.1651G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Val551Met", "hgvsWellDefined": "NP_001123927.1:p.Val551Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825747274", "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.1606G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Val536Met", "hgvsWellDefined": "NP_001124448.1:p.Val536Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749535", "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.1606G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Val536Met", "hgvsWellDefined": "NP_001124449.1:p.Val536Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825751805", "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.1648G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Val550Met", "hgvsWellDefined": "NP_001124450.1:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825754079", "coordinates": [ { "allele": "A", "end": 2117, "referenceAllele": "G", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Val581Met", "hgvsWellDefined": "NP_001124451.1:p.Val581Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825756341", "coordinates": [ { "allele": "A", "end": 2075, "referenceAllele": "G", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.1699G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Val567Met", "hgvsWellDefined": "NP_001124452.1:p.Val567Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758606", "coordinates": [ { "allele": "A", "end": 2075, "referenceAllele": "G", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.1699G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Val567Met", "hgvsWellDefined": "NP_001124453.1:p.Val567Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA2499238917", "coordinates": [ { "allele": "A", "end": 1885, "referenceAllele": "G", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.1744G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Val582Met", "hgvsWellDefined": "NP_001124454.1:p.Val582Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762513", "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "G", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.1651G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Val551Met", "hgvsWellDefined": "NP_001124455.1:p.Val551Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764737", "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.1609G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Val537Met", "hgvsWellDefined": "NP_001124456.1:p.Val537Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825766977", "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "G", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.1702G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Val568Met", "hgvsWellDefined": "NP_001124457.1:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825769209", "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.1609G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Val537Met", "hgvsWellDefined": "NP_001124458.1:p.Val537Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA2825771121", "coordinates": [ { "allele": "A", "end": 1843, "referenceAllele": "G", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.1702G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Val568Met", "hgvsWellDefined": "NP_001124459.1:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829466494", "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.1648G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Val550Met", "hgvsWellDefined": "NP_003485.1:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "A", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.1744G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Val582Met", "hgvsWellDefined": "XP_005264641.1:p.Val582Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "A", "end": 2621, "referenceAllele": "G", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Val581Met", "hgvsWellDefined": "XP_005264642.1:p.Val581Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "A", "end": 1900, "referenceAllele": "G", "start": 1899 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.1744G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Val582Met", "hgvsWellDefined": "XP_005264641.1:p.Val582Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "A", "end": 2586, "referenceAllele": "G", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.1741G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Val581Met", "hgvsWellDefined": "XP_005264642.1:p.Val581Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "A", "end": 1902, "referenceAllele": "G", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.1902G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA2825771121", "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.1702G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Val568Met", "hgvsWellDefined": "NP_001124459.1:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.1702G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.1702G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Val568Met" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Val568Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2825693531", "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.1651G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Val551Met", "hgvsWellDefined": "NP_001123927.1:p.Val551Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825747274", "coordinates": [ { "allele": "A", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.1606G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Val536Met", "hgvsWellDefined": "NP_001124448.1:p.Val536Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749535", "coordinates": [ { "allele": "A", "end": 2044, "referenceAllele": "G", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.1606G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Val536Met", "hgvsWellDefined": "NP_001124449.1:p.Val536Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825751805", "coordinates": [ { "allele": "A", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.1648G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Val550Met", "hgvsWellDefined": "NP_001124450.1:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825754079", "coordinates": [ { "allele": "A", "end": 2179, "referenceAllele": "G", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.1741G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Val581Met", "hgvsWellDefined": "NP_001124451.1:p.Val581Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825756341", "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.1699G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Val567Met", "hgvsWellDefined": "NP_001124452.1:p.Val567Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758606", "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.1699G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Val567Met", "hgvsWellDefined": "NP_001124453.1:p.Val567Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA2499238917", "coordinates": [ { "allele": "A", "end": 1888, "referenceAllele": "G", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.1744G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Val582Met", "hgvsWellDefined": "NP_001124454.1:p.Val582Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762513", "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.1651G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Val551Met", "hgvsWellDefined": "NP_001124455.1:p.Val551Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764737", "coordinates": [ { "allele": "A", "end": 1753, "referenceAllele": "G", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.1609G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Val537Met", "hgvsWellDefined": "NP_001124456.1:p.Val537Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825766977", "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.1702G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Val568Met", "hgvsWellDefined": "NP_001124457.1:p.Val568Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825769209", "coordinates": [ { "allele": "A", "end": 1753, "referenceAllele": "G", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.1609G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Val537Met", "hgvsWellDefined": "NP_001124458.1:p.Val537Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829466494", "coordinates": [ { "allele": "A", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.1648G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Val550Met", "hgvsWellDefined": "NP_003485.1:p.Val550Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.1648G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.1648G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Val550Met" }, "RefSeq": { "hgvs": "NP_003485.1:p.Val550Met" } } } } ], "type": "nucleotide" }