{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1409387", "communityStandardTitle": [ "NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=718680[alleleid]", "alleleId": 718680, "preferredName": "NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/711058", "RCV": [ "RCV003930580", "RCV000882749" ], "variationId": 711058 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-223178026-T-C", "id": "1-223178026-T-C", "variant": "1:223178026 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.223178026T>C?assembly=hg19", "id": "chr1:g.223178026T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.223004684T>C?assembly=hg38", "id": "chr1:g.223004684T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/144673025", "rs": 144673025 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-223178026-T-C?dataset=gnomad_r2_1", "id": "1-223178026-T-C", "variant": "1:223178026 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-223004684-T-C?dataset=gnomad_r3", "id": "1-223004684-T-C", "variant": "1:223004684 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-223004684-T-C?dataset=gnomad_r4", "id": "1-223004684-T-C", "variant": "1:223004684 T / C" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 223004684, "referenceAllele": "T", "start": 223004683 } ], "hgvs": [ "NC_000001.11:g.223004684T>C", "CM000663.2:g.223004684T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 223178026, "referenceAllele": "T", "start": 223178025 } ], "hgvs": [ "NC_000001.10:g.223178026T>C", "CM000663.1:g.223178026T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 221244649, "referenceAllele": "T", "start": 221244648 } ], "hgvs": [ "NC_000001.9:g.221244649T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 194596, "referenceAllele": "T", "start": 194595 } ], "hgvs": [ "NG_009243.2:g.194596T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001513" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 3121, "referenceAllele": "T", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000674709.1:c.*2814T>C" ], "proteinEffect": { "hgvs": "ENSP00000502092.1:n.*2814T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774636" }, { "coordinates": [ { "allele": "C", "end": 2992, "referenceAllele": "T", "start": 2991 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000674736.1:c.*2643T>C" ], "proteinEffect": { "hgvs": "ENSP00000501873.1:n.*2643T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774658" }, { "coordinates": [ { "allele": "C", "end": 3406, "referenceAllele": "T", "start": 3405 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000675039.1:c.3287T>C" ], "proteinEffect": { "hgvs": "ENSP00000501574.1:p.Met1096Thr", "hgvsWellDefined": "ENSP00000501574.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS774915" }, { "coordinates": [ { "allele": "C", "end": 3485, "referenceAllele": "T", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000675850.1:c.3287T>C" ], "proteinEffect": { "hgvs": "ENSP00000502357.1:p.Met1096Thr", "hgvsWellDefined": "ENSP00000502357.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775616", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675850.1:c.3287T>C" }, "RefSeq": { "hgvs": "NM_001377229.1:c.3287T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502357.1:p.Met1096Thr" }, "RefSeq": { "hgvs": "NP_001364158.1:p.Met1096Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 3547, "referenceAllele": "T", "start": 3546 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000675961.1:c.3287T>C" ], "proteinEffect": { "hgvs": "ENSP00000501808.1:p.Met1096Thr", "hgvsWellDefined": "ENSP00000501808.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775710" }, { "coordinates": [ { "allele": "C", "end": 3672, "referenceAllele": "T", "start": 3671 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000676139.1:c.*2620T>C" ], "proteinEffect": { "hgvs": "ENSP00000502496.1:n.*2620T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775865" }, { "coordinates": [ { "allele": "C", "end": 3451, "referenceAllele": "T", "start": 3450 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "ENST00000284476.7:c.3287T>C" ], "proteinEffect": { "hgvs": "ENSP00000284476.6:p.Met1096Thr", "hgvsWellDefined": "ENSP00000284476.6:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS253233" }, { "@id": "http://reg.genome.network/allele/PA2830103650", "coordinates": [ { "allele": "C", "end": 3613, "referenceAllele": "T", "start": 3612 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_032890.3:c.3287T>C" ], "proteinEffect": { "hgvs": "NP_116279.2:p.Met1096Thr", "hgvsWellDefined": "NP_116279.2:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS039388" }, { "coordinates": [ { "allele": "C", "end": 3451, "referenceAllele": "T", "start": 3450 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_005273335.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_005273392.1:p.Met1096Thr", "hgvsWellDefined": "XP_005273392.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS067548" }, { "coordinates": [ { "allele": "C", "end": 3526, "referenceAllele": "T", "start": 3525 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_006711592.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_006711655.1:p.Met1096Thr", "hgvsWellDefined": "XP_006711655.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069208" }, { "coordinates": [ { "allele": "C", "end": 3115, "referenceAllele": "T", "start": 3114 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_006711594.2:c.2705T>C" ], "proteinEffect": { "hgvs": "XP_006711657.1:p.Met902Thr", "hgvsWellDefined": "XP_006711657.1:p.Met902Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069209" }, { "coordinates": [ { "allele": "C", "end": 3453, "referenceAllele": "T", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510072.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508374.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508374.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077337" }, { "coordinates": [ { "allele": "C", "end": 3931, "referenceAllele": "T", "start": 3930 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510073.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508375.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508375.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077338" }, { "coordinates": [ { "allele": "C", "end": 3481, "referenceAllele": "T", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510074.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508376.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508376.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077339" }, { "coordinates": [ { "allele": "C", "end": 3959, "referenceAllele": "T", "start": 3958 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510075.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508377.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508377.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077340" }, { "coordinates": [ { "allele": "C", "end": 3618, "referenceAllele": "T", "start": 3617 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510076.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508378.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508378.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077341" }, { "coordinates": [ { "allele": "C", "end": 3395, "referenceAllele": "T", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510077.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508379.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508379.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077342" }, { "coordinates": [ { "allele": "C", "end": 2990, "referenceAllele": "T", "start": 2989 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510078.1:c.2705T>C" ], "proteinEffect": { "hgvs": "XP_011508380.1:p.Met902Thr", "hgvsWellDefined": "XP_011508380.1:p.Met902Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS077343" }, { "@id": "http://reg.genome.network/allele/PA916030553", "coordinates": [ { "allele": "C", "end": 3638, "referenceAllele": "T", "start": 3637 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_001350630.1:c.2558T>C" ], "proteinEffect": { "hgvs": "NP_001337559.1:p.Met853Thr", "hgvsWellDefined": "NP_001337559.1:p.Met853Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS519513" }, { "@id": "http://reg.genome.network/allele/PA2830103650", "coordinates": [ { "allele": "C", "end": 3621, "referenceAllele": "T", "start": 3620 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_032890.4:c.3287T>C" ], "proteinEffect": { "hgvs": "NP_116279.2:p.Met1096Thr", "hgvsWellDefined": "NP_116279.2:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526364" }, { "coordinates": [ { "allele": "C", "end": 3454, "referenceAllele": "T", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_005273335.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_005273392.1:p.Met1096Thr", "hgvsWellDefined": "XP_005273392.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS537433" }, { "coordinates": [ { "allele": "C", "end": 4401, "referenceAllele": "T", "start": 4400 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_006711592.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_006711655.1:p.Met1096Thr", "hgvsWellDefined": "XP_006711655.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538038" }, { "coordinates": [ { "allele": "C", "end": 3109, "referenceAllele": "T", "start": 3108 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_006711594.3:c.2705T>C" ], "proteinEffect": { "hgvs": "XP_006711657.1:p.Met902Thr", "hgvsWellDefined": "XP_006711657.1:p.Met902Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS538039" }, { "coordinates": [ { "allele": "C", "end": 3453, "referenceAllele": "T", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510072.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508374.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508374.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS541564" }, { "coordinates": [ { "allele": "C", "end": 3931, "referenceAllele": "T", "start": 3930 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510073.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508375.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508375.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS541565" }, { "coordinates": [ { "allele": "C", "end": 3472, "referenceAllele": "T", "start": 3471 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510074.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508376.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508376.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS541566" }, { "coordinates": [ { "allele": "C", "end": 3959, "referenceAllele": "T", "start": 3958 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510075.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508377.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508377.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS541567" }, { "coordinates": [ { "allele": "C", "end": 3395, "referenceAllele": "T", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_011510077.2:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_011508379.1:p.Met1096Thr", "hgvsWellDefined": "XP_011508379.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS541568" }, { "coordinates": [ { "allele": "C", "end": 3869, "referenceAllele": "T", "start": 3868 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_017002611.1:c.3287T>C" ], "proteinEffect": { "hgvs": "XP_016858100.1:p.Met1096Thr", "hgvsWellDefined": "XP_016858100.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS558552" }, { "coordinates": [ { "allele": "C", "end": 3278, "referenceAllele": "T", "start": 3277 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "XM_017002612.1:c.2705T>C" ], "proteinEffect": { "hgvs": "XP_016858101.1:p.Met902Thr", "hgvsWellDefined": "XP_016858101.1:p.Met902Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS558553" }, { "@id": "http://reg.genome.network/allele/PA916030553", "coordinates": [ { "allele": "C", "end": 3680, "referenceAllele": "T", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_001350630.2:c.2558T>C" ], "proteinEffect": { "hgvs": "NP_001337559.1:p.Met853Thr", "hgvsWellDefined": "NP_001337559.1:p.Met853Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS688438" }, { "@id": "http://reg.genome.network/allele/PA2828354148", "coordinates": [ { "allele": "C", "end": 3451, "referenceAllele": "T", "start": 3450 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_001369594.1:c.3287T>C" ], "proteinEffect": { "hgvs": "NP_001356523.1:p.Met1096Thr", "hgvsWellDefined": "NP_001356523.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS691805" }, { "@id": "http://reg.genome.network/allele/PA2828700656", "coordinates": [ { "allele": "C", "end": 3395, "referenceAllele": "T", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_001377228.1:c.3287T>C" ], "proteinEffect": { "hgvs": "NP_001364157.1:p.Met1096Thr", "hgvsWellDefined": "NP_001364157.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS695016" }, { "@id": "http://reg.genome.network/allele/PA2828700944", "coordinates": [ { "allele": "C", "end": 3485, "referenceAllele": "T", "start": 3484 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_001377229.1:c.3287T>C" ], "proteinEffect": { "hgvs": "NP_001364158.1:p.Met1096Thr", "hgvsWellDefined": "NP_001364158.1:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS695017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675850.1:c.3287T>C" }, "RefSeq": { "hgvs": "NM_001377229.1:c.3287T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502357.1:p.Met1096Thr" }, "RefSeq": { "hgvs": "NP_001364158.1:p.Met1096Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2830103650", "coordinates": [ { "allele": "C", "end": 3663, "referenceAllele": "T", "start": 3662 } ], "gene": "http://reg.genome.network/gene/GN019711", "geneNCBI_id": 84976, "geneSymbol": "DISP1", "hgvs": [ "NM_032890.5:c.3287T>C" ], "proteinEffect": { "hgvs": "NP_116279.2:p.Met1096Thr", "hgvsWellDefined": "NP_116279.2:p.Met1096Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS699213" } ], "type": "nucleotide" }