{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349114101", "communityStandardTitle": [ "NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834061[alleleid]", "alleleId": 2834061, "preferredName": "NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2674786", "RCV": [ "RCV003466149" ], "variationId": 2674786 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.169826679C>T?assembly=hg19", "id": "chr2:g.169826679C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.168970169C>T?assembly=hg38", "id": "chr2:g.168970169C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2545383503", "rs": 2545383503 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 168970169, "referenceAllele": "C", "start": 168970168 } ], "hgvs": [ "NC_000002.12:g.168970169C>T", "CM000664.2:g.168970169C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 169826679, "referenceAllele": "C", "start": 169826678 } ], "hgvs": [ "NC_000002.11:g.169826679C>T", "CM000664.1:g.169826679C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 169534925, "referenceAllele": "C", "start": 169534924 } ], "hgvs": [ "NC_000002.10:g.169534925C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 66155, "referenceAllele": "G", "start": 66154 } ], "hgvs": [ "NG_007374.1:g.66155G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000551" }, { "coordinates": [ { "allele": "A", "end": 66228, "referenceAllele": "G", "start": 66227 } ], "hgvs": [ "NG_007374.2:g.66228G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2, "referenceAllele": "G", "start": 1 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000649448.1:c.2G>A" ], "proteinEffect": { "hgvs": "ENSP00000497165.1:p.Gly1Asp", "hgvsWellDefined": "ENSP00000497165.1:p.Gly1Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS770549" }, { "coordinates": [ { "allele": "A", "end": 1812, "referenceAllele": "G", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000650372.1:c.1685G>A" ], "proteinEffect": { "hgvs": "ENSP00000497931.1:p.Gly562Asp", "hgvsWellDefined": "ENSP00000497931.1:p.Gly562Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS771082", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.1685G>A" }, "RefSeq": { "hgvs": "NM_003742.4:c.1685G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Gly562Asp" }, "RefSeq": { "hgvs": "NP_003733.2:p.Gly562Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 1810, "referenceAllele": "G", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000263817.6:c.1685G>A" ], "proteinEffect": { "hgvs": "ENSP00000263817.6:p.Gly562Asp", "hgvsWellDefined": "ENSP00000263817.6:p.Gly562Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS251351" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000439188.1:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000416058.1:n.374G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295303" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000478354.1:n.423G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318977" }, { "@id": "http://reg.genome.network/allele/PA2741905930", "coordinates": [ { "allele": "A", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.2:c.1685G>A" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Gly562Asp", "hgvsWellDefined": "NP_003733.2:p.Gly562Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS028963" }, { "coordinates": [ { "allele": "A", "end": 1862, "referenceAllele": "G", "start": 1861 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.2:c.1727G>A" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Gly576Asp", "hgvsWellDefined": "XP_006712880.1:p.Gly576Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS069850" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "G", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.1:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510379.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS079335" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "G", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.1:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510380.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS079336" }, { "coordinates": [ { "allele": "A", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512079.1:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510381.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510381.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS079337" }, { "coordinates": [ { "allele": "A", "end": 1926, "referenceAllele": "G", "start": 1925 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.1:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510382.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS079338" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.1:c.11G>A" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Gly4Asp", "hgvsWellDefined": "XP_011510383.1:p.Gly4Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS079339" }, { "@id": "http://reg.genome.network/allele/PA2741905930", "coordinates": [ { "allele": "A", "end": 1812, "referenceAllele": "G", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.4:c.1685G>A" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Gly562Asp", "hgvsWellDefined": "NP_003733.2:p.Gly562Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS525126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.1685G>A" }, "RefSeq": { "hgvs": "NM_003742.4:c.1685G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Gly562Asp" }, "RefSeq": { "hgvs": "NP_003733.2:p.Gly562Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 1923, "referenceAllele": "G", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.3:c.1727G>A" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Gly576Asp", "hgvsWellDefined": "XP_006712880.1:p.Gly576Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS538360" }, { "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "G", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.2:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510379.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS542409" }, { "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "G", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.2:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510380.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS542410" }, { "coordinates": [ { "allele": "A", "end": 1986, "referenceAllele": "G", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.2:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Gly596Asp", "hgvsWellDefined": "XP_011510382.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS542411" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.2:c.11G>A" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Gly4Asp", "hgvsWellDefined": "XP_011510383.1:p.Gly4Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS542412" }, { "coordinates": [ { "allele": "A", "end": 1985, "referenceAllele": "G", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005165.1:c.1787G>A" ], "proteinEffect": { "hgvs": "XP_016860654.1:p.Gly596Asp", "hgvsWellDefined": "XP_016860654.1:p.Gly596Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS560508" }, { "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005166.1:c.1016G>A" ], "proteinEffect": { "hgvs": "XP_016860655.1:p.Gly339Asp", "hgvsWellDefined": "XP_016860655.1:p.Gly339Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS560509" }, { "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "G", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005167.1:c.470G>A" ], "proteinEffect": { "hgvs": "XP_016860656.1:p.Gly157Asp", "hgvsWellDefined": "XP_016860656.1:p.Gly157Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS560510" } ], "type": "nucleotide" }