{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399499594", "communityStandardTitle": [ "NM_002230.4(JUP):c.928G>A (p.Gly310Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=645861[alleleid]", "alleleId": 645861, "preferredName": "NM_002230.4(JUP):c.928G>A (p.Gly310Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/652325", "RCV": [ "RCV000807858", "RCV002370158" ], "variationId": 652325 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39921301C>T?assembly=hg19", "id": "chr17:g.39921301C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41765049C>T?assembly=hg38", "id": "chr17:g.41765049C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1597808505", "rs": 1597808505 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41765049-C-T?dataset=gnomad_r3", "id": "17-41765049-C-T", "variant": "17:41765049 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41765049-C-T?dataset=gnomad_r4", "id": "17-41765049-C-T", "variant": "17:41765049 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41765049, "referenceAllele": "C", "start": 41765048 } ], "hgvs": [ "NC_000017.11:g.41765049C>T", "CM000679.2:g.41765049C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39921301, "referenceAllele": "C", "start": 39921300 } ], "hgvs": [ "NC_000017.10:g.39921301C>T", "CM000679.1:g.39921301C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37174827, "referenceAllele": "C", "start": 37174826 } ], "hgvs": [ "NC_000017.9:g.37174827C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 26664, "referenceAllele": "G", "start": 26663 } ], "hgvs": [ "NG_009090.2:g.26664G>A", "LRG_401:g.26664G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Gly310Ser", "hgvsWellDefined": "ENSP00000377508.3:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.928G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.928G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Gly310Ser" }, "RefSeq": { "hgvs": "NP_002221.1:p.Gly310Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 1047, "referenceAllele": "G", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Gly310Ser", "hgvsWellDefined": "ENSP00000311113.5:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "G", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Gly310Ser", "hgvsWellDefined": "ENSP00000377507.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 1047, "referenceAllele": "G", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.928G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Gly310Ser", "hgvsWellDefined": "ENSP00000377508.3:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "@id": "http://reg.genome.network/allele/PA2829368588", "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.928G>A", "LRG_401t2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Gly310Ser", "hgvsWellDefined": "NP_002221.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA916061764", "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.928G>A", "LRG_401t1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gly310Ser", "hgvsWellDefined": "NP_068831.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "G", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Gly310Ser", "hgvsWellDefined": "XP_006721936.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Gly310Ser", "hgvsWellDefined": "XP_006721937.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 1143, "referenceAllele": "G", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Gly310Ser", "hgvsWellDefined": "XP_006721938.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 1124, "referenceAllele": "G", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Gly310Ser", "hgvsWellDefined": "XP_006721941.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 1352, "referenceAllele": "G", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523055.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523056.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523057.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 954, "referenceAllele": "G", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523058.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523059.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523060.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677722", "coordinates": [ { "allele": "A", "end": 1139, "referenceAllele": "G", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339702.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678590", "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339703.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679458", "coordinates": [ { "allele": "A", "end": 1136, "referenceAllele": "G", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339704.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680326", "coordinates": [ { "allele": "A", "end": 1226, "referenceAllele": "G", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339705.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681194", "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339706.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA2829368588", "coordinates": [ { "allele": "A", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.928G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Gly310Ser", "hgvsWellDefined": "NP_002221.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA916061764", "coordinates": [ { "allele": "A", "end": 1117, "referenceAllele": "G", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.928G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gly310Ser", "hgvsWellDefined": "NP_068831.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.928G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Gly310Ser", "hgvsWellDefined": "XP_006721937.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 1347, "referenceAllele": "G", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.928G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Gly310Ser", "hgvsWellDefined": "XP_011523055.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.979G>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Gly327Ser", "hgvsWellDefined": "XP_016880077.1:p.Gly327Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.928G>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Gly310Ser", "hgvsWellDefined": "XP_016880079.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA2829368588", "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.928G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Gly310Ser", "hgvsWellDefined": "NP_002221.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.928G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.928G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Gly310Ser" }, "RefSeq": { "hgvs": "NP_002221.1:p.Gly310Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677722", "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "G", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339702.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678590", "coordinates": [ { "allele": "A", "end": 1057, "referenceAllele": "G", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339703.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679458", "coordinates": [ { "allele": "A", "end": 1079, "referenceAllele": "G", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339704.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680326", "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "G", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339705.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681194", "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "G", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.928G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Gly310Ser", "hgvsWellDefined": "NP_001339706.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA916061764", "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.928G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Gly310Ser", "hgvsWellDefined": "NP_068831.1:p.Gly310Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }