{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA13515902", "communityStandardTitle": [ "NM_001297719.2(BMAL1):c.-263+13743G>A" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.13313213G>A?assembly=hg19", "id": "chr11:g.13313213G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.13291666G>A?assembly=hg38", "id": "chr11:g.13291666G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/10766071", "rs": 10766071 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-13313213-G-A?dataset=gnomad_r2_1", "id": "11-13313213-G-A", "variant": "11:13313213 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-13291666-G-A?dataset=gnomad_r3", "id": "11-13291666-G-A", "variant": "11:13291666 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-13291666-G-A?dataset=gnomad_r4", "id": "11-13291666-G-A", "variant": "11:13291666 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 13291666, "referenceAllele": "G", "start": 13291665 } ], "hgvs": [ "NC_000011.10:g.13291666G>A", "CM000673.2:g.13291666G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 13313213, "referenceAllele": "G", "start": 13313212 } ], "hgvs": [ "NC_000011.9:g.13313213G>A", "CM000673.1:g.13313213G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 13269789, "referenceAllele": "G", "start": 13269788 } ], "hgvs": [ "NC_000011.8:g.13269789G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 146, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 146, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000401424.6:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000385915.2:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS753964" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000403290.6:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000384517.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754042", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403290.6:c.-263+13743G>A" }, "RefSeq": { "hgvs": "NM_001297719.2:c.-263+13743G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384517.1:n.-263+13743G>A" }, "RefSeq": { "hgvs": "NP_001284648.1:n.-263+13743G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000403510.8:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000385581.4:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754050" }, { "coordinates": [ { "allele": "A", "end": 39, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 39, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000482049.6:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000436721.2:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757401" }, { "coordinates": [ { "allele": "A", "end": 172, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 172, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000529388.6:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000433571.2:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759129" }, { "coordinates": [ { "allele": "A", "end": 130, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 130, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000529825.6:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000434263.2:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759144" }, { "coordinates": [ { "allele": "A", "end": 109, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 109, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000530357.6:c.-137+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000436313.2:n.-137+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759178" }, { "coordinates": [ { "allele": "A", "end": 95, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 95, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000673626.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000500988.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773740" }, { "coordinates": [ { "allele": "A", "end": 94, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 94, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000673817.1:c.-362+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000501212.1:n.-362+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773891" }, { "coordinates": [ { "allele": "A", "end": 95, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 95, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000673834.1:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000500983.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773905" }, { "coordinates": [ { "allele": "A", "end": 46, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 46, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000673888.1:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000501059.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773945" }, { "coordinates": [ { "allele": "A", "end": 82, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000673892.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000501106.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773949" }, { "coordinates": [ { "allele": "A", "end": 126, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000674108.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000501035.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774127" }, { "coordinates": [ { "allele": "A", "end": 126, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000389707.8:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000374357.4:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274274" }, { "coordinates": [ { "allele": "A", "end": 126, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000401424.5:c.-401+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000385915.1:n.-401+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS279222" }, { "coordinates": [ { "allele": "A", "end": 93, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 93, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000403290.5:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000384517.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS279763" }, { "coordinates": [ { "allele": "A", "end": 82, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 82, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000403510.7:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000385581.3:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS279824" }, { "coordinates": [ { "allele": "A", "end": 95, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 95, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000480685.5:n.95+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320773" }, { "coordinates": [ { "allele": "A", "end": 39, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 39, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000482049.5:c.-484+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000436721.1:n.-484+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS321839" }, { "coordinates": [ { "allele": "A", "end": 29, "endIntronDirection": "+", "endIntronOffset": 13999, "referenceAllele": "G", "start": 29, "startIntronDirection": "+", "startIntronOffset": 13998 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000527998.5:c.-263+13999G>A" ], "proteinEffect": { "hgvs": "ENSP00000433540.1:n.-263+13999G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS353603" }, { "coordinates": [ { "allele": "A", "end": 421, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 421, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000529050.5:c.-82+14594G>A" ], "proteinEffect": { "hgvs": "ENSP00000434044.1:n.-82+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS354498" }, { "coordinates": [ { "allele": "A", "end": 122, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 122, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000529388.5:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000433571.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS354782" }, { "coordinates": [ { "allele": "A", "end": 130, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 130, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000529825.5:c.-282+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000434263.1:n.-282+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS355173" }, { "coordinates": [ { "allele": "A", "end": 109, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 109, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000530357.5:c.-337+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000436313.1:n.-337+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS355623" }, { "coordinates": [ { "allele": "A", "end": 131, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 131, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000533520.5:c.-135+13743G>A" ], "proteinEffect": { "hgvs": "ENSP00000431488.1:n.-135+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS358276" }, { "coordinates": [ { "allele": "A", "end": 421, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 421, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "ENST00000534544.5:c.-208+14594G>A" ], "proteinEffect": { "hgvs": "ENSP00000431566.1:n.-208+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS359139" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001030272.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001025443.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008965" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001030273.2:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "NP_001025444.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008966" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001178.5:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "NP_001169.3:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015796" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001297719.1:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "NP_001284648.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024732" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001297722.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001284651.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024735" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001297724.1:c.-401+13743G>A" ], "proteinEffect": { "hgvs": "NP_001284653.1:n.-401+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024737" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_006718233.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "XP_006718296.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS072531" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_006718234.1:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "XP_006718297.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS072532" }, { "coordinates": [ { "allele": "A", "end": 190, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 190, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520108.1:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "XP_011518410.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087277" }, { "coordinates": [ { "allele": "A", "end": 126, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520109.1:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "XP_011518411.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087278" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520110.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "XP_011518412.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087279" }, { "coordinates": [ { "allele": "A", "end": 130, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 130, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520111.1:c.-282+13743G>A" ], "proteinEffect": { "hgvs": "XP_011518413.1:n.-282+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087280" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520112.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "XP_011518414.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087281" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520113.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "XP_011518415.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS087282" }, { "coordinates": [ { "allele": "A", "end": 421, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 421, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351804.1:c.-263+14594G>A" ], "proteinEffect": { "hgvs": "NP_001338733.1:n.-263+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520462" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351805.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338734.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520463" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351806.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338735.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520464" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351807.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338736.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520465" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351808.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338737.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520466" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351809.1:c.-383+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338738.1:n.-383+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520467" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351810.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338739.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520468" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351811.1:c.-950+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338740.1:n.-950+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520469" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351812.1:c.-438+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338741.1:n.-438+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520470" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351813.1:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338742.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520471" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351814.1:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338743.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520472" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351815.1:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338744.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520473" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351816.1:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338745.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520474" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351817.1:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338746.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520475" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351818.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338747.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520476" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351819.1:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338748.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520477" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351820.1:c.-456+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338749.1:n.-456+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520478" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351821.1:c.-337+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338750.1:n.-337+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520479" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351822.1:c.-282+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338751.1:n.-282+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520480" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351823.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338752.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520481" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351824.1:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338753.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS520482" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147785.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530837" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147786.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530838" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147787.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530839" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147788.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530840" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147789.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530841" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147790.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530842" }, { "coordinates": [ { "allele": "A", "end": 197, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 197, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147791.1:n.197+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530843" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520105.3:c.48+14594G>A" ], "proteinEffect": { "hgvs": "XP_011518407.2:n.48+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS545594" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_011520107.3:c.48+14594G>A" ], "proteinEffect": { "hgvs": "XP_011518409.2:n.48+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS545595" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_017017738.2:c.48+14594G>A" ], "proteinEffect": { "hgvs": "XP_016873227.1:n.48+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS569857" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_017017739.2:c.48+14594G>A" ], "proteinEffect": { "hgvs": "XP_016873228.1:n.48+14594G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS569858" }, { "coordinates": [ { "allele": "A", "end": 126, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_017017741.1:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "XP_016873230.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS569859" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XM_017017744.1:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "XP_016873233.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS569860" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XR_001747876.2:n.521+14594G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595973" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XR_002957147.1:n.521+14594G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603283" }, { "coordinates": [ { "allele": "A", "end": 521, "endIntronDirection": "+", "endIntronOffset": 14594, "referenceAllele": "G", "start": 521, "startIntronDirection": "+", "startIntronOffset": 14593 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "XR_002957148.1:n.521+14594G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603284" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001030272.3:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001025443.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711473" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001030273.3:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "NP_001025444.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711474" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001178.6:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "NP_001169.3:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713543" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001297719.2:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "NP_001284648.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403290.6:c.-263+13743G>A" }, "RefSeq": { "hgvs": "NM_001297719.2:c.-263+13743G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384517.1:n.-263+13743G>A" }, "RefSeq": { "hgvs": "NP_001284648.1:n.-263+13743G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001297722.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001284651.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716833" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001297724.2:c.-401+13743G>A" ], "proteinEffect": { "hgvs": "NP_001284653.1:n.-401+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716835" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351805.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338734.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719905" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351806.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338735.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719906" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351807.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338736.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719907" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351808.2:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338737.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719908" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351809.2:c.-383+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338738.1:n.-383+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719909" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351810.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338739.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719910" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351811.2:c.-950+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338740.1:n.-950+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719911" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351812.2:c.-438+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338741.1:n.-438+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719912" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351813.2:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338742.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719913" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351814.2:c.-263+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338743.1:n.-263+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719914" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351815.2:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338744.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719915" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351816.2:c.-408+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338745.1:n.-408+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719916" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351817.2:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338746.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719917" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351818.2:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338747.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719918" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351819.2:c.-208+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338748.1:n.-208+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719919" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351820.2:c.-456+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338749.1:n.-456+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719920" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351821.2:c.-337+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338750.1:n.-337+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719921" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351822.2:c.-282+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338751.1:n.-282+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719922" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351823.2:c.-463+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338752.1:n.-463+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719923" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NM_001351824.2:c.-82+13743G>A" ], "proteinEffect": { "hgvs": "NP_001338753.1:n.-82+13743G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719924" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147785.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731383" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147786.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731384" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147787.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731385" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147788.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731386" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147789.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731387" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147790.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731388" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "+", "endIntronOffset": 13743, "referenceAllele": "G", "start": 134, "startIntronDirection": "+", "startIntronOffset": 13742 } ], "gene": "http://reg.genome.network/gene/GN000701", "geneNCBI_id": 406, "geneSymbol": "BMAL1", "hgvs": [ "NR_147791.2:n.134+13743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731389" } ], "type": "nucleotide" }