{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2210147900", "communityStandardTitle": [ "NM_001171.6(ABCC6):c.2400A= (p.Gly800=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=703525[alleleid]", "alleleId": 703525, "preferredName": "NM_001171.6(ABCC6):c.2400= (p.Gly800=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/768757", "RCV": [ "RCV000947680" ], "variationId": 768757 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/7500834", "rs": 7500834 }, { "@id": "http://www.ncbi.nlm.nih.gov/snp/2510994440", "rs": 2510994440 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16178813, "referenceAllele": "T", "start": 16178812 } ], "hgvs": [ "NC_000016.10:g.16178813T=", "CM000678.2:g.16178813T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16272670, "referenceAllele": "T", "start": 16272669 } ], "hgvs": [ "NC_000016.9:g.16272670T=", "CM000678.1:g.16272670T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 16180171, "referenceAllele": "T", "start": 16180170 } ], "hgvs": [ "NC_000016.8:g.16180171T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 49805, "referenceAllele": "A", "start": 49804 } ], "hgvs": [ "NG_007558.3:g.49805A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS733313" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2460, "referenceAllele": "A", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.5:c.2400A=" ], "proteinEffect": { "hgvs": "ENSP00000483331.2:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826576" }, { "coordinates": [ { "allele": "A", "end": 2460, "referenceAllele": "A", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.12:c.2400A=" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS740175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.2400A=" }, "RefSeq": { "hgvs": "NM_001171.6:c.2400A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Gly800=" }, "RefSeq": { "hgvs": "NP_001162.5:p.Gly800=" } } } }, { "coordinates": [ { "allele": "A", "end": 2430, "referenceAllele": "A", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.11:c.2400A=" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247821" }, { "coordinates": [ { "allele": "A", "end": 2400, "referenceAllele": "A", "start": 2399 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000456970.6:c.2400A=" ], "proteinEffect": { "hgvs": "ENSP00000405002.2:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303727" }, { "coordinates": [ { "allele": "A", "end": 2437, "referenceAllele": "A", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.4:c.2400A=" ], "proteinEffect": { "hgvs": "ENSP00000483331.1:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405655" }, { "coordinates": [ { "allele": "A", "end": 2612, "endIntronDirection": "+", "endIntronOffset": 18, "referenceAllele": "A", "start": 2612, "startIntronDirection": "+", "startIntronOffset": 17 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.1:c.2382+18A=" ], "proteinEffect": { "hgvs": "XP_011520781.1:n.2382+18A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089630" }, { "coordinates": [ { "allele": "A", "end": 2385, "referenceAllele": "A", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522480.1:c.2058A=" ], "proteinEffect": { "hgvs": "XP_011520782.1:p.Gly686=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089631" }, { "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "A", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.1:c.2058A=" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Gly686=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089632" }, { "coordinates": [ { "allele": "A", "end": 2639, "referenceAllele": "A", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522482.1:c.2400A=" ], "proteinEffect": { "hgvs": "XP_011520784.1:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089633" }, { "coordinates": [ { "allele": "A", "end": 2635, "referenceAllele": "A", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.1:n.2635A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128735" }, { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "A", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.1:n.2636A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128736" }, { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "A", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.1:n.2636A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128737" }, { "coordinates": [ { "allele": "A", "end": 2563, "endIntronDirection": "+", "endIntronOffset": 18, "referenceAllele": "A", "start": 2563, "startIntronDirection": "+", "startIntronOffset": 17 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.2:c.2382+18A=" ], "proteinEffect": { "hgvs": "XP_011520781.1:n.2382+18A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546607" }, { "coordinates": [ { "allele": "A", "end": 2583, "referenceAllele": "A", "start": 2582 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.3:c.2058A=" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Gly686=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546608" }, { "coordinates": [ { "allele": "A", "end": 2579, "referenceAllele": "A", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522482.3:c.2400A=" ], "proteinEffect": { "hgvs": "XP_011520784.1:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546609" }, { "coordinates": [ { "allele": "A", "end": 2428, "endIntronDirection": "-", "endIntronOffset": 1186, "referenceAllele": "A", "start": 2428, "startIntronDirection": "-", "startIntronOffset": 1187 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023212.1:c.2248-1187A=" ], "proteinEffect": { "hgvs": "XP_016878701.1:n.2248-1187A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "A", "end": 2582, "referenceAllele": "A", "start": 2581 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023214.1:c.2400A=" ], "proteinEffect": { "hgvs": "XP_016878703.1:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS574013" }, { "coordinates": [ { "allele": "A", "end": 2619, "referenceAllele": "A", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_024450261.1:c.2436A=" ], "proteinEffect": { "hgvs": "XP_024306029.1:p.Gly812=" }, "referenceSequence": "http://reg.genome.network/refseq/RS583801" }, { "coordinates": [ { "allele": "A", "end": 2581, "referenceAllele": "A", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.2:n.2581A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610311" }, { "coordinates": [ { "allele": "A", "end": 2581, "referenceAllele": "A", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.3:n.2581A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "A", "end": 2581, "referenceAllele": "A", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.2581A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "@id": "http://reg.genome.network/allele/PA2826010506", "coordinates": [ { "allele": "A", "end": 2460, "referenceAllele": "A", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.2400A=" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Gly800=" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.2400A=" }, "RefSeq": { "hgvs": "NM_001171.6:c.2400A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Gly800=" }, "RefSeq": { "hgvs": "NP_001162.5:p.Gly800=" } } } } ], "type": "nucleotide" }