{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375415117", "communityStandardTitle": [ "NM_139027.6(ADAMTS13):c.3469T>A (p.Cys1157Ser)" ], "externalRecords": { "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.133456137T>A?assembly=hg38", "id": "chr9:g.133456137T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554795860", "rs": 1554795860 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-133456137-T-A?dataset=gnomad_r4", "id": "9-133456137-T-A", "variant": "9:133456137 T / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 133456137, "referenceAllele": "T", "start": 133456136 } ], "hgvs": [ "NC_000009.12:g.133456137T>A", "CM000671.2:g.133456137T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 135311080, "referenceAllele": "T", "start": 135311079 } ], "hgvs": [ "NC_000009.10:g.135311080T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 46799, "referenceAllele": "T", "start": 46798 } ], "hgvs": [ "NG_011934.2:g.46799T>A", "LRG_544:g.46799T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002061" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3546, "referenceAllele": "T", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000355699.7:c.3469T>A" ], "proteinEffect": { "hgvs": "ENSP00000347927.2:p.Cys1157Ser", "hgvsWellDefined": "ENSP00000347927.2:p.Cys1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS748708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355699.7:c.3469T>A" }, "RefSeq": { "hgvs": "NM_139027.6:c.3469T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347927.2:p.Cys1157Ser" }, "RefSeq": { "hgvs": "NP_620596.2:p.Cys1157Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 3589, "referenceAllele": "T", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000355699.6:c.3469T>A" ], "proteinEffect": { "hgvs": "ENSP00000347927.2:p.Cys1157Ser", "hgvsWellDefined": "ENSP00000347927.2:p.Cys1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263520" }, { "coordinates": [ { "allele": "A", "end": 3496, "referenceAllele": "T", "start": 3495 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000356589.6:c.3376T>A" ], "proteinEffect": { "hgvs": "ENSP00000348997.2:p.Cys1126Ser", "hgvsWellDefined": "ENSP00000348997.2:p.Cys1126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263811" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371910.1:c.25T>A" ], "proteinEffect": { "hgvs": "ENSP00000360978.1:p.Cys9Ser", "hgvsWellDefined": "ENSP00000360978.1:p.Cys9Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS268818" }, { "coordinates": [ { "allele": "A", "end": 3461, "referenceAllele": "T", "start": 3460 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371916.5:c.*938T>A" ], "proteinEffect": { "hgvs": "ENSP00000360984.2:n.*938T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS268820" }, { "coordinates": [ { "allele": "A", "end": 4081, "referenceAllele": "T", "start": 4080 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000371929.7:c.3637T>A" ], "proteinEffect": { "hgvs": "ENSP00000360997.3:p.Cys1213Ser", "hgvsWellDefined": "ENSP00000360997.3:p.Cys1213Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS268829" }, { "coordinates": [ { "allele": "A", "end": 2285, "referenceAllele": "T", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "ENST00000485925.5:n.2285T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324843" }, { "coordinates": [ { "allele": "A", "end": 4081, "referenceAllele": "T", "start": 4080 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139025.4:c.3637T>A", "LRG_544t1:c.3637T>A" ], "proteinEffect": { "hgvs": "NP_620594.1:p.Cys1213Ser", "hgvsWellDefined": "NP_620594.1:p.Cys1213Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS040955" }, { "coordinates": [ { "allele": "A", "end": 3820, "referenceAllele": "T", "start": 3819 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.4:c.3376T>A" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Cys1126Ser", "hgvsWellDefined": "NP_620595.1:p.Cys1126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS040956" }, { "@id": "http://reg.genome.network/allele/PA3075626028", "coordinates": [ { "allele": "A", "end": 3913, "referenceAllele": "T", "start": 3912 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.4:c.3469T>A" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Cys1157Ser", "hgvsWellDefined": "NP_620596.2:p.Cys1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS040957" }, { "coordinates": [ { "allele": "A", "end": 2304, "referenceAllele": "T", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NR_024514.2:n.2304T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047021" }, { "coordinates": [ { "allele": "A", "end": 3554, "referenceAllele": "T", "start": 3553 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518174.1:c.3247T>A" ], "proteinEffect": { "hgvs": "XP_011516476.1:p.Cys1083Ser", "hgvsWellDefined": "XP_011516476.1:p.Cys1083Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085350" }, { "coordinates": [ { "allele": "A", "end": 4863, "referenceAllele": "T", "start": 4862 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518175.1:c.*44T>A" ], "proteinEffect": { "hgvs": "XP_011516477.1:n.*44T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS085351" }, { "coordinates": [ { "allele": "A", "end": 2733, "referenceAllele": "T", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518176.1:c.2653T>A" ], "proteinEffect": { "hgvs": "XP_011516478.1:p.Cys885Ser", "hgvsWellDefined": "XP_011516478.1:p.Cys885Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085352" }, { "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "T", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518177.1:c.2647T>A" ], "proteinEffect": { "hgvs": "XP_011516479.1:p.Cys883Ser", "hgvsWellDefined": "XP_011516479.1:p.Cys883Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085353" }, { "coordinates": [ { "allele": "A", "end": 2407, "referenceAllele": "T", "start": 2406 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518178.1:c.2302T>A" ], "proteinEffect": { "hgvs": "XP_011516480.1:p.Cys768Ser", "hgvsWellDefined": "XP_011516480.1:p.Cys768Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085354" }, { "coordinates": [ { "allele": "A", "end": 2450, "referenceAllele": "T", "start": 2449 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518179.1:c.2302T>A" ], "proteinEffect": { "hgvs": "XP_011516481.1:p.Cys768Ser", "hgvsWellDefined": "XP_011516481.1:p.Cys768Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085355" }, { "coordinates": [ { "allele": "A", "end": 3128, "referenceAllele": "T", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518180.1:c.1903T>A" ], "proteinEffect": { "hgvs": "XP_011516482.1:p.Cys635Ser", "hgvsWellDefined": "XP_011516482.1:p.Cys635Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085356" }, { "coordinates": [ { "allele": "A", "end": 2733, "referenceAllele": "T", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518176.3:c.2653T>A" ], "proteinEffect": { "hgvs": "XP_011516478.1:p.Cys885Ser", "hgvsWellDefined": "XP_011516478.1:p.Cys885Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544806" }, { "coordinates": [ { "allele": "A", "end": 2407, "referenceAllele": "T", "start": 2406 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_011518178.2:c.2302T>A" ], "proteinEffect": { "hgvs": "XP_011516480.1:p.Cys768Ser", "hgvsWellDefined": "XP_011516480.1:p.Cys768Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544807" }, { "coordinates": [ { "allele": "A", "end": 4292, "referenceAllele": "T", "start": 4291 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014232.1:c.3625T>A" ], "proteinEffect": { "hgvs": "XP_016869721.1:p.Cys1209Ser", "hgvsWellDefined": "XP_016869721.1:p.Cys1209Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS567255" }, { "coordinates": [ { "allele": "A", "end": 3693, "referenceAllele": "T", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014233.1:c.3247T>A" ], "proteinEffect": { "hgvs": "XP_016869722.1:p.Cys1083Ser", "hgvsWellDefined": "XP_016869722.1:p.Cys1083Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS567256" }, { "coordinates": [ { "allele": "A", "end": 2881, "referenceAllele": "T", "start": 2880 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "XM_017014234.2:c.2647T>A" ], "proteinEffect": { "hgvs": "XP_016869723.1:p.Cys883Ser", "hgvsWellDefined": "XP_016869723.1:p.Cys883Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS567257" }, { "coordinates": [ { "allele": "A", "end": 3453, "referenceAllele": "T", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.5:c.3376T>A" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Cys1126Ser", "hgvsWellDefined": "NP_620595.1:p.Cys1126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS699826" }, { "@id": "http://reg.genome.network/allele/PA3075626028", "coordinates": [ { "allele": "A", "end": 3546, "referenceAllele": "T", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.5:c.3469T>A" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Cys1157Ser", "hgvsWellDefined": "NP_620596.2:p.Cys1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS699827" }, { "coordinates": [ { "allele": "A", "end": 3714, "referenceAllele": "T", "start": 3713 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139025.5:c.3637T>A" ], "proteinEffect": { "hgvs": "NP_620594.1:p.Cys1213Ser", "hgvsWellDefined": "NP_620594.1:p.Cys1213Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS729201" }, { "coordinates": [ { "allele": "A", "end": 3453, "referenceAllele": "T", "start": 3452 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139026.6:c.3376T>A" ], "proteinEffect": { "hgvs": "NP_620595.1:p.Cys1126Ser", "hgvsWellDefined": "NP_620595.1:p.Cys1126Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS729202" }, { "@id": "http://reg.genome.network/allele/PA3075626028", "coordinates": [ { "allele": "A", "end": 3546, "referenceAllele": "T", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NM_139027.6:c.3469T>A" ], "proteinEffect": { "hgvs": "NP_620596.2:p.Cys1157Ser", "hgvsWellDefined": "NP_620596.2:p.Cys1157Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS729203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355699.7:c.3469T>A" }, "RefSeq": { "hgvs": "NM_139027.6:c.3469T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347927.2:p.Cys1157Ser" }, "RefSeq": { "hgvs": "NP_620596.2:p.Cys1157Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2306, "referenceAllele": "T", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN001366", "geneNCBI_id": 11093, "geneSymbol": "ADAMTS13", "hgvs": [ "NR_024514.3:n.2306T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730190" } ], "type": "nucleotide" }