{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA308561", "communityStandardTitle": [ "NM_002230.4(JUP):c.773A>G (p.Glu258Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198498[alleleid]", "alleleId": 198498, "preferredName": "NM_002230.4(JUP):c.773A>G (p.Glu258Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201830", "RCV": [ "RCV000183508", "RCV000656182", "RCV002399672" ], "variationId": 201830 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39923767T>C?assembly=hg19", "id": "chr17:g.39923767T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41767515T>C?assembly=hg38", "id": "chr17:g.41767515T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794729052", "rs": 794729052 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 41767515, "referenceAllele": "T", "start": 41767514 } ], "hgvs": [ "NC_000017.11:g.41767515T>C", "CM000679.2:g.41767515T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 39923767, "referenceAllele": "T", "start": 39923766 } ], "hgvs": [ "NC_000017.10:g.39923767T>C", "CM000679.1:g.39923767T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 37177293, "referenceAllele": "T", "start": 37177292 } ], "hgvs": [ "NC_000017.9:g.37177293T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 24198, "referenceAllele": "A", "start": 24197 } ], "hgvs": [ "NG_009090.2:g.24198A>G", "LRG_401:g.24198A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "A", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Glu258Gly", "hgvsWellDefined": "ENSP00000377508.3:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.773A>G" }, "RefSeq": { "hgvs": "NM_002230.4:c.773A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Glu258Gly" }, "RefSeq": { "hgvs": "NP_002221.1:p.Glu258Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "A", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Glu258Gly", "hgvsWellDefined": "ENSP00000311113.5:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "G", "end": 990, "referenceAllele": "A", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Glu258Gly", "hgvsWellDefined": "ENSP00000377507.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "A", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Glu258Gly", "hgvsWellDefined": "ENSP00000377508.3:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "coordinates": [ { "allele": "G", "end": 858, "referenceAllele": "A", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000420370.5:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000411449.1:p.Glu258Gly", "hgvsWellDefined": "ENSP00000411449.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS286287" }, { "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "A", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000437187.5:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000394146.1:p.Glu258Gly", "hgvsWellDefined": "ENSP00000394146.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS294343" }, { "coordinates": [ { "allele": "G", "end": 949, "referenceAllele": "A", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000449889.5:c.773A>G" ], "proteinEffect": { "hgvs": "ENSP00000389886.1:p.Glu258Gly", "hgvsWellDefined": "ENSP00000389886.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS300436" }, { "@id": "http://reg.genome.network/allele/PA308564", "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "A", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.773A>G", "LRG_401t2:c.773A>G" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Glu258Gly", "hgvsWellDefined": "NP_002221.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA308565", "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "A", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.773A>G", "LRG_401t1:c.773A>G" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Glu258Gly", "hgvsWellDefined": "NP_068831.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "G", "end": 1014, "referenceAllele": "A", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Glu258Gly", "hgvsWellDefined": "XP_006721936.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "G", "end": 919, "referenceAllele": "A", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Glu258Gly", "hgvsWellDefined": "XP_006721937.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "G", "end": 988, "referenceAllele": "A", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Glu258Gly", "hgvsWellDefined": "XP_006721938.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "G", "end": 969, "referenceAllele": "A", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Glu258Gly", "hgvsWellDefined": "XP_006721941.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "G", "end": 1197, "referenceAllele": "A", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523055.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "G", "end": 1094, "referenceAllele": "A", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523056.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "A", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523057.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "G", "end": 799, "referenceAllele": "A", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523058.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "G", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523059.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "G", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523060.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677662", "coordinates": [ { "allele": "G", "end": 984, "referenceAllele": "A", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339702.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678530", "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "A", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339703.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679398", "coordinates": [ { "allele": "G", "end": 981, "referenceAllele": "A", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339704.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680265", "coordinates": [ { "allele": "G", "end": 1071, "referenceAllele": "A", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339705.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681134", "coordinates": [ { "allele": "G", "end": 974, "referenceAllele": "A", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339706.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA308564", "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "A", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.773A>G" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Glu258Gly", "hgvsWellDefined": "NP_002221.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA308565", "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "A", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.773A>G" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Glu258Gly", "hgvsWellDefined": "NP_068831.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "G", "end": 919, "referenceAllele": "A", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.773A>G" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Glu258Gly", "hgvsWellDefined": "XP_006721937.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "G", "end": 1192, "referenceAllele": "A", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.773A>G" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Glu258Gly", "hgvsWellDefined": "XP_011523055.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "G", "end": 889, "referenceAllele": "A", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.824A>G" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Glu275Gly", "hgvsWellDefined": "XP_016880077.1:p.Glu275Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "G", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.773A>G" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Glu258Gly", "hgvsWellDefined": "XP_016880079.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA308564", "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "A", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.773A>G" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Glu258Gly", "hgvsWellDefined": "NP_002221.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.773A>G" }, "RefSeq": { "hgvs": "NM_002230.4:c.773A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Glu258Gly" }, "RefSeq": { "hgvs": "NP_002221.1:p.Glu258Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677662", "coordinates": [ { "allele": "G", "end": 927, "referenceAllele": "A", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339702.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678530", "coordinates": [ { "allele": "G", "end": 902, "referenceAllele": "A", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339703.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679398", "coordinates": [ { "allele": "G", "end": 924, "referenceAllele": "A", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339704.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680265", "coordinates": [ { "allele": "G", "end": 1014, "referenceAllele": "A", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339705.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681134", "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.773A>G" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Glu258Gly", "hgvsWellDefined": "NP_001339706.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA308565", "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "A", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.773A>G" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Glu258Gly", "hgvsWellDefined": "NP_068831.1:p.Glu258Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }