{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA966587", "communityStandardTitle": [ "NM_000642.3(AGL):c.1759C>T (p.His587Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=281416[alleleid]", "alleleId": 281416, "preferredName": "NM_000642.3(AGL):c.1759C>T (p.His587Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291333", "RCV": [ "RCV000335847", "RCV002519359", "RCV001567373" ], "variationId": 291333 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-100346211-C-T", "id": "1-100346211-C-T", "variant": "1:100346211 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.100346211C>T?assembly=hg19", "id": "chr1:g.100346211C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.99880655C>T?assembly=hg38", "id": "chr1:g.99880655C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/139488862", "rs": 139488862 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-100346211-C-T?dataset=gnomad_r2_1", "id": "1-100346211-C-T", "variant": "1:100346211 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-99880655-C-T?dataset=gnomad_r3", "id": "1-99880655-C-T", "variant": "1:99880655 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-99880655-C-T?dataset=gnomad_r4", "id": "1-99880655-C-T", "variant": "1:99880655 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 99880655, "referenceAllele": "C", "start": 99880654 } ], "hgvs": [ "NC_000001.11:g.99880655C>T", "CM000663.2:g.99880655C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 100346211, "referenceAllele": "C", "start": 100346210 } ], "hgvs": [ "NC_000001.10:g.100346211C>T", "CM000663.1:g.100346211C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 100118799, "referenceAllele": "C", "start": 100118798 } ], "hgvs": [ "NC_000001.9:g.100118799C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 35572, "referenceAllele": "C", "start": 35571 } ], "hgvs": [ "NG_012865.1:g.35572C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.8:c.1759C>T" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.His587Tyr", "hgvsWellDefined": "ENSP00000355106.3:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS749563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.1759C>T" }, "RefSeq": { "hgvs": "NM_000642.3:c.1759C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.His587Tyr" }, "RefSeq": { "hgvs": "NP_000633.2:p.His587Tyr" } } } }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000637337.1:n.1970C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763793" }, { "coordinates": [ { "allele": "T", "end": 2237, "referenceAllele": "C", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000294724.8:c.1759C>T" ], "proteinEffect": { "hgvs": "ENSP00000294724.4:p.His587Tyr", "hgvsWellDefined": "ENSP00000294724.4:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS253994" }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361302.7:c.1711C>T" ], "proteinEffect": { "hgvs": "ENSP00000354971.3:p.His571Tyr", "hgvsWellDefined": "ENSP00000354971.3:p.His571Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265423" }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361522.4:c.1708C>T" ], "proteinEffect": { "hgvs": "ENSP00000354635.4:p.His570Tyr", "hgvsWellDefined": "ENSP00000354635.4:p.His570Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265519" }, { "coordinates": [ { "allele": "T", "end": 2159, "referenceAllele": "C", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.7:c.1759C>T" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.His587Tyr", "hgvsWellDefined": "ENSP00000355106.3:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265709" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370161.6:c.1711C>T" ], "proteinEffect": { "hgvs": "ENSP00000359180.2:p.His571Tyr", "hgvsWellDefined": "ENSP00000359180.2:p.His571Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267908" }, { "coordinates": [ { "allele": "T", "end": 1957, "referenceAllele": "C", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370163.7:c.1759C>T" ], "proteinEffect": { "hgvs": "ENSP00000359182.3:p.His587Tyr", "hgvsWellDefined": "ENSP00000359182.3:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267910" }, { "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370165.7:c.1759C>T" ], "proteinEffect": { "hgvs": "ENSP00000359184.3:p.His587Tyr", "hgvsWellDefined": "ENSP00000359184.3:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267911" }, { "@id": "http://reg.genome.network/allele/PA2825006583", "coordinates": [ { "allele": "T", "end": 2237, "referenceAllele": "C", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000028.2:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_000019.2:p.His587Tyr", "hgvsWellDefined": "NP_000019.2:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006093" }, { "@id": "http://reg.genome.network/allele/PA645436764", "coordinates": [ { "allele": "T", "end": 2159, "referenceAllele": "C", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.2:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_000633.2:p.His587Tyr", "hgvsWellDefined": "NP_000633.2:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006693" }, { "@id": "http://reg.genome.network/allele/PA2825222498", "coordinates": [ { "allele": "T", "end": 1957, "referenceAllele": "C", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000643.2:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_000634.2:p.His587Tyr", "hgvsWellDefined": "NP_000634.2:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006694" }, { "@id": "http://reg.genome.network/allele/PA915963101", "coordinates": [ { "allele": "T", "end": 1897, "referenceAllele": "C", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000644.2:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_000635.2:p.His587Tyr", "hgvsWellDefined": "NP_000635.2:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006695" }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000645.2:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_000636.2:p.His570Tyr", "hgvsWellDefined": "NP_000636.2:p.His570Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006696" }, { "@id": "http://reg.genome.network/allele/PA2825232533", "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000646.2:c.1711C>T" ], "proteinEffect": { "hgvs": "NP_000637.2:p.His571Tyr", "hgvsWellDefined": "NP_000637.2:p.His571Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006697" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.1:c.1759C>T" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.His587Tyr", "hgvsWellDefined": "XP_005270614.1:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS066566" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.2:c.1759C>T" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.His587Tyr", "hgvsWellDefined": "XP_005270614.1:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536956" }, { "coordinates": [ { "allele": "T", "end": 87, "referenceAllele": "C", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_017000501.2:c.19C>T" ], "proteinEffect": { "hgvs": "XP_016855990.1:p.His7Tyr", "hgvsWellDefined": "XP_016855990.1:p.His7Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556866" }, { "@id": "http://reg.genome.network/allele/PA645436764", "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.3:c.1759C>T" ], "proteinEffect": { "hgvs": "NP_000633.2:p.His587Tyr", "hgvsWellDefined": "NP_000633.2:p.His587Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.1759C>T" }, "RefSeq": { "hgvs": "NM_000642.3:c.1759C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.His587Tyr" }, "RefSeq": { "hgvs": "NP_000633.2:p.His587Tyr" } } } } ], "type": "nucleotide" }