{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA137167", "communityStandardTitle": [ "NM_002230.4(JUP):c.1942G>A (p.Val648Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55007[alleleid]", "alleleId": 55007, "preferredName": "NM_002230.4(JUP):c.1942G>A (p.Val648Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45842", "RCV": [ "RCV000039072", "RCV000248914", "RCV000514183", "RCV001123568", "RCV001123569", "RCV000769487", "RCV000852718", "RCV001081355" ], "variationId": 45842 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-39913771-C-T", "id": "17-39913771-C-T", "variant": "17:39913771 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39913771C>T?assembly=hg19", "id": "chr17:g.39913771C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41757519C>T?assembly=hg38", "id": "chr17:g.41757519C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/143043662", "rs": 143043662 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-39913771-C-T?dataset=gnomad_r2_1", "id": "17-39913771-C-T", "variant": "17:39913771 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41757519-C-T?dataset=gnomad_r3", "id": "17-41757519-C-T", "variant": "17:41757519 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41757519-C-T?dataset=gnomad_r4", "id": "17-41757519-C-T", "variant": "17:41757519 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41757519, "referenceAllele": "C", "start": 41757518 } ], "hgvs": [ "NC_000017.11:g.41757519C>T", "CM000679.2:g.41757519C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39913771, "referenceAllele": "C", "start": 39913770 } ], "hgvs": [ "NC_000017.10:g.39913771C>T", "CM000679.1:g.39913771C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37167297, "referenceAllele": "C", "start": 37167296 } ], "hgvs": [ "NC_000017.9:g.37167297C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 34194, "referenceAllele": "G", "start": 34193 } ], "hgvs": [ "NG_009090.2:g.34194G>A", "LRG_401:g.34194G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2074, "referenceAllele": "G", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.1942G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Val648Ile", "hgvsWellDefined": "ENSP00000377508.3:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.1942G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.1942G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Val648Ile" }, "RefSeq": { "hgvs": "NP_002221.1:p.Val648Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "G", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.1942G>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Val648Ile", "hgvsWellDefined": "ENSP00000311113.5:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 2159, "referenceAllele": "G", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.1942G>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Val648Ile", "hgvsWellDefined": "ENSP00000377507.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "G", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.1942G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Val648Ile", "hgvsWellDefined": "ENSP00000377508.3:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "@id": "http://reg.genome.network/allele/PA137170", "coordinates": [ { "allele": "A", "end": 2075, "referenceAllele": "G", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.1942G>A", "LRG_401t2:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Val648Ile", "hgvsWellDefined": "NP_002221.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA137171", "coordinates": [ { "allele": "A", "end": 2075, "referenceAllele": "G", "start": 2074 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.1942G>A", "LRG_401t1:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Val648Ile", "hgvsWellDefined": "NP_068831.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Val648Ile", "hgvsWellDefined": "XP_006721936.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Val648Ile", "hgvsWellDefined": "XP_006721937.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 2157, "referenceAllele": "G", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Val648Ile", "hgvsWellDefined": "XP_006721938.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 2138, "referenceAllele": "G", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Val648Ile", "hgvsWellDefined": "XP_006721941.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 2366, "referenceAllele": "G", "start": 2365 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Val648Ile", "hgvsWellDefined": "XP_011523055.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 2263, "referenceAllele": "G", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Val648Ile", "hgvsWellDefined": "XP_011523056.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 2070, "referenceAllele": "G", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Val648Ile", "hgvsWellDefined": "XP_011523057.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 1968, "referenceAllele": "G", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Val648Ile", "hgvsWellDefined": "XP_011523058.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 1964, "referenceAllele": "G", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Val648Ile", "hgvsWellDefined": "XP_011523059.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 1964, "referenceAllele": "G", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Val648Ile", "hgvsWellDefined": "XP_011523060.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827678103", "coordinates": [ { "allele": "A", "end": 2153, "referenceAllele": "G", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Val648Ile", "hgvsWellDefined": "NP_001339702.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678972", "coordinates": [ { "allele": "A", "end": 2128, "referenceAllele": "G", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Val648Ile", "hgvsWellDefined": "NP_001339703.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679839", "coordinates": [ { "allele": "A", "end": 2150, "referenceAllele": "G", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Val648Ile", "hgvsWellDefined": "NP_001339704.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680707", "coordinates": [ { "allele": "A", "end": 2240, "referenceAllele": "G", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Val648Ile", "hgvsWellDefined": "NP_001339705.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681575", "coordinates": [ { "allele": "A", "end": 2143, "referenceAllele": "G", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Val648Ile", "hgvsWellDefined": "NP_001339706.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA137170", "coordinates": [ { "allele": "A", "end": 2131, "referenceAllele": "G", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Val648Ile", "hgvsWellDefined": "NP_002221.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA137171", "coordinates": [ { "allele": "A", "end": 2131, "referenceAllele": "G", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Val648Ile", "hgvsWellDefined": "NP_068831.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Val648Ile", "hgvsWellDefined": "XP_006721937.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Val648Ile", "hgvsWellDefined": "XP_011523055.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 2058, "referenceAllele": "G", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.1993G>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Val665Ile", "hgvsWellDefined": "XP_016880077.1:p.Val665Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 1964, "referenceAllele": "G", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.1942G>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Val648Ile", "hgvsWellDefined": "XP_016880079.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA137170", "coordinates": [ { "allele": "A", "end": 2074, "referenceAllele": "G", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Val648Ile", "hgvsWellDefined": "NP_002221.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.1942G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.1942G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Val648Ile" }, "RefSeq": { "hgvs": "NP_002221.1:p.Val648Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2827678103", "coordinates": [ { "allele": "A", "end": 2096, "referenceAllele": "G", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Val648Ile", "hgvsWellDefined": "NP_001339702.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678972", "coordinates": [ { "allele": "A", "end": 2071, "referenceAllele": "G", "start": 2070 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Val648Ile", "hgvsWellDefined": "NP_001339703.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679839", "coordinates": [ { "allele": "A", "end": 2093, "referenceAllele": "G", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Val648Ile", "hgvsWellDefined": "NP_001339704.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680707", "coordinates": [ { "allele": "A", "end": 2183, "referenceAllele": "G", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Val648Ile", "hgvsWellDefined": "NP_001339705.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681575", "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Val648Ile", "hgvsWellDefined": "NP_001339706.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA137171", "coordinates": [ { "allele": "A", "end": 2074, "referenceAllele": "G", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.1942G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Val648Ile", "hgvsWellDefined": "NP_068831.1:p.Val648Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }