{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA308501", "communityStandardTitle": [ "NM_002230.4(JUP):c.892G>A (p.Gly298Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198493[alleleid]", "alleleId": 198493, "preferredName": "NM_002230.4(JUP):c.892G>A (p.Gly298Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201819", "RCV": [ "RCV000251525", "RCV000475317", "RCV000587522", "RCV001293416" ], "variationId": 201819 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-39923648-C-T", "id": "17-39923648-C-T", "variant": "17:39923648 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39923648C>T?assembly=hg19", "id": "chr17:g.39923648C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41767396C>T?assembly=hg38", "id": "chr17:g.41767396C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199597864", "rs": 199597864 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-39923648-C-T?dataset=gnomad_r2_1", "id": "17-39923648-C-T", "variant": "17:39923648 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41767396-C-T?dataset=gnomad_r3", "id": "17-41767396-C-T", "variant": "17:41767396 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41767396-C-T?dataset=gnomad_r4", "id": "17-41767396-C-T", "variant": "17:41767396 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41767396, "referenceAllele": "C", "start": 41767395 } ], "hgvs": [ "NC_000017.11:g.41767396C>T", "CM000679.2:g.41767396C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39923648, "referenceAllele": "C", "start": 39923647 } ], "hgvs": [ "NC_000017.10:g.39923648C>T", "CM000679.1:g.39923648C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37177174, "referenceAllele": "C", "start": 37177173 } ], "hgvs": [ "NC_000017.9:g.37177174C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 24317, "referenceAllele": "G", "start": 24316 } ], "hgvs": [ "NG_009090.2:g.24317G>A", "LRG_401:g.24317G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.892G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Gly298Ser", "hgvsWellDefined": "ENSP00000377508.3:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.892G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.892G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Gly298Ser" }, "RefSeq": { "hgvs": "NP_002221.1:p.Gly298Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.892G>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Gly298Ser", "hgvsWellDefined": "ENSP00000311113.5:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.892G>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Gly298Ser", "hgvsWellDefined": "ENSP00000377507.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.892G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Gly298Ser", "hgvsWellDefined": "ENSP00000377508.3:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000449889.5:c.892G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS300436" }, { "@id": "http://reg.genome.network/allele/PA308504", "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "G", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.892G>A", "LRG_401t2:c.892G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Gly298Ser", "hgvsWellDefined": "NP_002221.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA308505", "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "G", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.892G>A", "LRG_401t1:c.892G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gly298Ser", "hgvsWellDefined": "NP_068831.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Gly298Ser", "hgvsWellDefined": "XP_006721936.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Gly298Ser", "hgvsWellDefined": "XP_006721937.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Gly298Ser", "hgvsWellDefined": "XP_006721938.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Gly298Ser", "hgvsWellDefined": "XP_006721941.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523055.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523056.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "G", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523057.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523058.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523059.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523060.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677713", "coordinates": [ { "allele": "A", "end": 1103, "referenceAllele": "G", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339702.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678581", "coordinates": [ { "allele": "A", "end": 1078, "referenceAllele": "G", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339703.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679449", "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339704.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680317", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339705.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681185", "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339706.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA308504", "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.892G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Gly298Ser", "hgvsWellDefined": "NP_002221.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA308505", "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.892G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gly298Ser", "hgvsWellDefined": "NP_068831.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.892G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Gly298Ser", "hgvsWellDefined": "XP_006721937.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.892G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Gly298Ser", "hgvsWellDefined": "XP_011523055.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.943G>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Gly315Ser", "hgvsWellDefined": "XP_016880077.1:p.Gly315Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.892G>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Gly298Ser", "hgvsWellDefined": "XP_016880079.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA308504", "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.892G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Gly298Ser", "hgvsWellDefined": "NP_002221.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.892G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.892G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Gly298Ser" }, "RefSeq": { "hgvs": "NP_002221.1:p.Gly298Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677713", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339702.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678581", "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339703.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679449", "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339704.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680317", "coordinates": [ { "allele": "A", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339705.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681185", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.892G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Gly298Ser", "hgvsWellDefined": "NP_001339706.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA308505", "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.892G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gly298Ser", "hgvsWellDefined": "NP_068831.1:p.Gly298Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }