{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA137129", "communityStandardTitle": [ "NM_002230.4(JUP):c.1331G>A (p.Arg444His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1211308", "active": true, "id": "COSM1211308" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54998[alleleid]", "alleleId": 54998, "preferredName": "NM_002230.4(JUP):c.1331G>A (p.Arg444His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45833", "RCV": [ "RCV000039062", "RCV000533569", "RCV003162344" ], "variationId": 45833 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-39919401-C-T", "id": "17-39919401-C-T", "variant": "17:39919401 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39919401C>T?assembly=hg19", "id": "chr17:g.39919401C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41763149C>T?assembly=hg38", "id": "chr17:g.41763149C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369507567", "rs": 369507567 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-39919401-C-T?dataset=gnomad_r2_1", "id": "17-39919401-C-T", "variant": "17:39919401 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41763149-C-T?dataset=gnomad_r3", "id": "17-41763149-C-T", "variant": "17:41763149 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41763149-C-T?dataset=gnomad_r4", "id": "17-41763149-C-T", "variant": "17:41763149 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41763149, "referenceAllele": "C", "start": 41763148 } ], "hgvs": [ "NC_000017.11:g.41763149C>T", "CM000679.2:g.41763149C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39919401, "referenceAllele": "C", "start": 39919400 } ], "hgvs": [ "NC_000017.10:g.39919401C>T", "CM000679.1:g.39919401C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37172927, "referenceAllele": "C", "start": 37172926 } ], "hgvs": [ "NC_000017.9:g.37172927C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 28564, "referenceAllele": "G", "start": 28563 } ], "hgvs": [ "NG_009090.2:g.28564G>A", "LRG_401:g.28564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.1331G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Arg444His", "hgvsWellDefined": "ENSP00000377508.3:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.1331G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.1331G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Arg444His" }, "RefSeq": { "hgvs": "NP_002221.1:p.Arg444His" } } } }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.1331G>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Arg444His", "hgvsWellDefined": "ENSP00000311113.5:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 1548, "referenceAllele": "G", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.1331G>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Arg444His", "hgvsWellDefined": "ENSP00000377507.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.1331G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Arg444His", "hgvsWellDefined": "ENSP00000377508.3:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "@id": "http://reg.genome.network/allele/PA137132", "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.1331G>A", "LRG_401t2:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Arg444His", "hgvsWellDefined": "NP_002221.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA137133", "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.1331G>A", "LRG_401t1:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Arg444His", "hgvsWellDefined": "NP_068831.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Arg444His", "hgvsWellDefined": "XP_006721936.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 1477, "referenceAllele": "G", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Arg444His", "hgvsWellDefined": "XP_006721937.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 1546, "referenceAllele": "G", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Arg444His", "hgvsWellDefined": "XP_006721938.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Arg444His", "hgvsWellDefined": "XP_006721941.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 1755, "referenceAllele": "G", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Arg444His", "hgvsWellDefined": "XP_011523055.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Arg444His", "hgvsWellDefined": "XP_011523056.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "G", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Arg444His", "hgvsWellDefined": "XP_011523057.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Arg444His", "hgvsWellDefined": "XP_011523058.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Arg444His", "hgvsWellDefined": "XP_011523059.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Arg444His", "hgvsWellDefined": "XP_011523060.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677867", "coordinates": [ { "allele": "A", "end": 1542, "referenceAllele": "G", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Arg444His", "hgvsWellDefined": "NP_001339702.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678735", "coordinates": [ { "allele": "A", "end": 1517, "referenceAllele": "G", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Arg444His", "hgvsWellDefined": "NP_001339703.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679603", "coordinates": [ { "allele": "A", "end": 1539, "referenceAllele": "G", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Arg444His", "hgvsWellDefined": "NP_001339704.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680472", "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Arg444His", "hgvsWellDefined": "NP_001339705.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681340", "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "G", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Arg444His", "hgvsWellDefined": "NP_001339706.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA137132", "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Arg444His", "hgvsWellDefined": "NP_002221.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA137133", "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Arg444His", "hgvsWellDefined": "NP_068831.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 1477, "referenceAllele": "G", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Arg444His", "hgvsWellDefined": "XP_006721937.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Arg444His", "hgvsWellDefined": "XP_011523055.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.1382G>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Arg461His", "hgvsWellDefined": "XP_016880077.1:p.Arg461His" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.1331G>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Arg444His", "hgvsWellDefined": "XP_016880079.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA137132", "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Arg444His", "hgvsWellDefined": "NP_002221.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.1331G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.1331G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Arg444His" }, "RefSeq": { "hgvs": "NP_002221.1:p.Arg444His" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677867", "coordinates": [ { "allele": "A", "end": 1485, "referenceAllele": "G", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Arg444His", "hgvsWellDefined": "NP_001339702.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678735", "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Arg444His", "hgvsWellDefined": "NP_001339703.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679603", "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Arg444His", "hgvsWellDefined": "NP_001339704.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680472", "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Arg444His", "hgvsWellDefined": "NP_001339705.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681340", "coordinates": [ { "allele": "A", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Arg444His", "hgvsWellDefined": "NP_001339706.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA137133", "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.1331G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Arg444His", "hgvsWellDefined": "NP_068831.1:p.Arg444His" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }