{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352001035", "communityStandardTitle": [ "NM_000404.4(GLB1):c.924T>A (p.Phe308Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33093281A>T?assembly=hg19", "id": "chr3:g.33093281A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.33051789A>T?assembly=hg38", "id": "chr3:g.33051789A>T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 33051789, "referenceAllele": "A", "start": 33051788 } ], "hgvs": [ "NC_000003.12:g.33051789A>T", "CM000665.2:g.33051789A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 33093281, "referenceAllele": "A", "start": 33093280 } ], "hgvs": [ "NC_000003.11:g.33093281A>T", "CM000665.1:g.33093281A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 33068285, "referenceAllele": "A", "start": 33068284 } ], "hgvs": [ "NC_000003.10:g.33068285A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 50414, "referenceAllele": "T", "start": 50413 } ], "hgvs": [ "NG_009005.1:g.50414T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001373" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "T", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307363.10:c.924T>A" ], "proteinEffect": { "hgvs": "ENSP00000306920.4:p.Phe308Leu", "hgvsWellDefined": "ENSP00000306920.4:p.Phe308Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS745364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.924T>A" }, "RefSeq": { "hgvs": "NM_000404.4:c.924T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Phe308Leu" }, "RefSeq": { "hgvs": "NP_000395.3:p.Phe308Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "T", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307363.9:c.924T>A" ], "proteinEffect": { "hgvs": "ENSP00000306920.4:p.Phe308Leu", "hgvsWellDefined": "ENSP00000306920.4:p.Phe308Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS255876" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000307377.12:c.531T>A" ], "proteinEffect": { "hgvs": "ENSP00000305920.8:p.Phe177Leu", "hgvsWellDefined": "ENSP00000305920.8:p.Phe177Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS255881" }, { "coordinates": [ { "allele": "A", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000399402.7:c.834T>A" ], "proteinEffect": { "hgvs": "ENSP00000382333.2:p.Phe278Leu", "hgvsWellDefined": "ENSP00000382333.2:p.Phe278Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278664" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000415454.1:c.447T>A" ], "proteinEffect": { "hgvs": "ENSP00000411813.1:p.Phe149Leu", "hgvsWellDefined": "ENSP00000411813.1:p.Phe149Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS283995" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "T", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000482097.5:n.299T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321877" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000485698.5:n.327T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324665" }, { "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "T", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "ENST00000498537.5:n.450T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334527" }, { "@id": "http://reg.genome.network/allele/PA150631", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "T", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.2:c.924T>A" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Phe308Leu", "hgvsWellDefined": "NP_000395.2:p.Phe308Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006465" }, { "@id": "http://reg.genome.network/allele/PA150631", "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "T", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.3:c.924T>A" ], "proteinEffect": { "hgvs": "NP_000395.2:p.Phe308Leu", "hgvsWellDefined": "NP_000395.2:p.Phe308Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006466" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "T", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.1:c.834T>A" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Phe278Leu", "hgvsWellDefined": "NP_001073279.1:p.Phe278Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010094" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "T", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.2:c.834T>A" ], "proteinEffect": { "hgvs": "NP_001073279.1:p.Phe278Leu", "hgvsWellDefined": "NP_001073279.1:p.Phe278Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010095" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "T", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.1:c.531T>A" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Phe177Leu", "hgvsWellDefined": "NP_001129074.1:p.Phe177Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012431" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "T", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.2:c.531T>A" ], "proteinEffect": { "hgvs": "NP_001129074.1:p.Phe177Leu", "hgvsWellDefined": "NP_001129074.1:p.Phe177Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS012432" }, { "@id": "http://reg.genome.network/allele/PA916021890", "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "T", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.1:c.1068T>A" ], "proteinEffect": { "hgvs": "NP_001303969.1:p.Phe356Leu", "hgvsWellDefined": "NP_001303969.1:p.Phe356Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS026699" }, { "@id": "http://reg.genome.network/allele/PA2825162480", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "T", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_000404.4:c.924T>A" ], "proteinEffect": { "hgvs": "NP_000395.3:p.Phe308Leu", "hgvsWellDefined": "NP_000395.3:p.Phe308Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000307363.10:c.924T>A" }, "RefSeq": { "hgvs": "NM_000404.4:c.924T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306920.4:p.Phe308Leu" }, "RefSeq": { "hgvs": "NP_000395.3:p.Phe308Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825444820", "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "T", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001079811.3:c.834T>A" ], "proteinEffect": { "hgvs": "NP_001073279.2:p.Phe278Leu", "hgvsWellDefined": "NP_001073279.2:p.Phe278Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711783" }, { "@id": "http://reg.genome.network/allele/PA2825794148", "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001135602.3:c.531T>A" ], "proteinEffect": { "hgvs": "NP_001129074.2:p.Phe177Leu", "hgvsWellDefined": "NP_001129074.2:p.Phe177Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712445" }, { "@id": "http://reg.genome.network/allele/PA2573070128", "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "T", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001317040.2:c.1068T>A" ], "proteinEffect": { "hgvs": "NP_001303969.2:p.Phe356Leu", "hgvsWellDefined": "NP_001303969.2:p.Phe356Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717394" }, { "@id": "http://reg.genome.network/allele/PA2829206001", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "T", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN004298", "geneNCBI_id": 2720, "geneSymbol": "GLB1", "hgvs": [ "NM_001393580.1:c.924T>A" ], "proteinEffect": { "hgvs": "NP_001380509.1:p.Phe308Leu", "hgvsWellDefined": "NP_001380509.1:p.Phe308Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS726736" } ], "type": "nucleotide" }