{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1705338", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=397208", "active": true, "id": "COSM397208" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4979040", "active": true, "id": "COSM4979040" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=588744[alleleid]", "alleleId": 588744, "preferredName": "NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/597683", "RCV": [ "RCV000733873", "RCV001038268", "RCV001273962", "RCV002536504" ], "variationId": 597683 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-71738941-C-T", "id": "2-71738941-C-T", "variant": "2:71738941 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71738941C>T?assembly=hg19", "id": "chr2:g.71738941C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71511811C>T?assembly=hg38", "id": "chr2:g.71511811C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199677396", "rs": 199677396 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71738941-C-T?dataset=gnomad_r2_1", "id": "2-71738941-C-T", "variant": "2:71738941 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71511811-C-T?dataset=gnomad_r3", "id": "2-71511811-C-T", "variant": "2:71511811 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71511811-C-T?dataset=gnomad_r4", "id": "2-71511811-C-T", "variant": "2:71511811 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71511811, "referenceAllele": "C", "start": 71511810 } ], "hgvs": [ "NC_000002.12:g.71511811C>T", "CM000664.2:g.71511811C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71738941, "referenceAllele": "C", "start": 71738940 } ], "hgvs": [ "NC_000002.11:g.71738941C>T", "CM000664.1:g.71738941C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 71592449, "referenceAllele": "C", "start": 71592448 } ], "hgvs": [ "NC_000002.10:g.71592449C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 63189, "referenceAllele": "C", "start": 63188 } ], "hgvs": [ "NG_008694.1:g.63189C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.347C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Ser116Leu", "hgvsWellDefined": "ENSP00000258104.3:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.347C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.347C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Ser116Leu" }, "RefSeq": { "hgvs": "NP_003485.1:p.Ser116Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Ser117Leu", "hgvsWellDefined": "ENSP00000386881.3:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.350C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.350C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Ser117Leu" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Ser117Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.347C>T" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Ser116Leu", "hgvsWellDefined": "ENSP00000258104.3:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Ser117Leu", "hgvsWellDefined": "ENSP00000377678.2:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Ser117Leu", "hgvsWellDefined": "ENSP00000386512.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.347C>T" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Ser116Leu", "hgvsWellDefined": "ENSP00000386547.3:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Ser117Leu", "hgvsWellDefined": "ENSP00000386683.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Ser117Leu", "hgvsWellDefined": "ENSP00000386285.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.347C>T" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Ser116Leu", "hgvsWellDefined": "ENSP00000387137.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Ser117Leu", "hgvsWellDefined": "ENSP00000386881.3:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.350C>T" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Ser117Leu", "hgvsWellDefined": "ENSP00000386617.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.347C>T" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Ser116Leu", "hgvsWellDefined": "ENSP00000407046.2:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "T", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.347C>T" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Ser116Leu", "hgvsWellDefined": "ENSP00000398305.2:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "@id": "http://reg.genome.network/allele/PA2825692810", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Ser117Leu", "hgvsWellDefined": "NP_001123927.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "@id": "http://reg.genome.network/allele/PA2825746813", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124448.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "@id": "http://reg.genome.network/allele/PA2825749074", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124449.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "@id": "http://reg.genome.network/allele/PA2825751336", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124450.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "@id": "http://reg.genome.network/allele/PA2825753601", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124451.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "@id": "http://reg.genome.network/allele/PA2825755876", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124452.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "@id": "http://reg.genome.network/allele/PA2825758141", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124453.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "@id": "http://reg.genome.network/allele/PA2825760381", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124454.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "@id": "http://reg.genome.network/allele/PA2825762038", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124455.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "@id": "http://reg.genome.network/allele/PA2825764275", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124456.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "@id": "http://reg.genome.network/allele/PA2825766512", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124457.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "@id": "http://reg.genome.network/allele/PA2825768749", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124458.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "@id": "http://reg.genome.network/allele/PA913201152", "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124459.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "@id": "http://reg.genome.network/allele/PA2829465824", "coordinates": [ { "allele": "T", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.347C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Ser116Leu", "hgvsWellDefined": "NP_003485.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.350C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Ser117Leu", "hgvsWellDefined": "XP_005264641.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.347C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Ser116Leu", "hgvsWellDefined": "XP_005264642.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.350C>T" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Ser117Leu", "hgvsWellDefined": "XP_005264641.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.347C>T" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Ser116Leu", "hgvsWellDefined": "XP_005264642.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "@id": "http://reg.genome.network/allele/PA913201152", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124459.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.350C>T" }, "RefSeq": { "hgvs": "NM_001130987.2:c.350C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Ser117Leu" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Ser117Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825692810", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Ser117Leu", "hgvsWellDefined": "NP_001123927.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "@id": "http://reg.genome.network/allele/PA2825746813", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124448.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "@id": "http://reg.genome.network/allele/PA2825749074", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124449.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "@id": "http://reg.genome.network/allele/PA2825751336", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124450.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "@id": "http://reg.genome.network/allele/PA2825753601", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124451.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "@id": "http://reg.genome.network/allele/PA2825755876", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124452.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "@id": "http://reg.genome.network/allele/PA2825758141", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.347C>T" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Ser116Leu", "hgvsWellDefined": "NP_001124453.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "@id": "http://reg.genome.network/allele/PA2825760381", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124454.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "@id": "http://reg.genome.network/allele/PA2825762038", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124455.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "@id": "http://reg.genome.network/allele/PA2825764275", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124456.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "@id": "http://reg.genome.network/allele/PA2825766512", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124457.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "@id": "http://reg.genome.network/allele/PA2825768749", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.350C>T" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Ser117Leu", "hgvsWellDefined": "NP_001124458.1:p.Ser117Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "@id": "http://reg.genome.network/allele/PA2829465824", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.347C>T" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Ser116Leu", "hgvsWellDefined": "NP_003485.1:p.Ser116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.347C>T" }, "RefSeq": { "hgvs": "NM_003494.4:c.347C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Ser116Leu" }, "RefSeq": { "hgvs": "NP_003485.1:p.Ser116Leu" } } } } ], "type": "nucleotide" }