{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2210131777", "communityStandardTitle": [ "NM_001171.6(ABCC6):c.3722G= (p.Trp1241=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/72653748", "rs": 72653748 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 16159495, "referenceAllele": "C", "start": 16159494 } ], "hgvs": [ "NC_000016.10:g.16159495C=", "CM000678.2:g.16159495C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 16253352, "referenceAllele": "C", "start": 16253351 } ], "hgvs": [ "NC_000016.9:g.16253352C=", "CM000678.1:g.16253352C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 16160853, "referenceAllele": "C", "start": 16160852 } ], "hgvs": [ "NC_000016.8:g.16160853C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 68977, "referenceAllele": "G", "start": 68976 } ], "hgvs": [ "NG_007558.2:g.68977G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000648" }, { "coordinates": [ { "allele": "G", "end": 69123, "referenceAllele": "G", "start": 69122 } ], "hgvs": [ "NG_007558.3:g.69123G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS733313" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3782, "referenceAllele": "G", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.5:c.3722G=" ], "proteinEffect": { "hgvs": "ENSP00000483331.2:p.Trp1241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826576" }, { "coordinates": [ { "allele": "G", "end": 3782, "referenceAllele": "G", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.12:c.3722G=" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Trp1241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS740175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.3722G=" }, "RefSeq": { "hgvs": "NM_001171.6:c.3722G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Trp1241=" }, "RefSeq": { "hgvs": "NP_001162.5:p.Trp1241=" } } } }, { "coordinates": [ { "allele": "G", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000640696.1:c.536G=" ], "proteinEffect": { "hgvs": "ENSP00000492197.1:p.Trp179=" }, "referenceSequence": "http://reg.genome.network/refseq/RS765624" }, { "coordinates": [ { "allele": "G", "end": 3752, "referenceAllele": "G", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.11:c.3722G=" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Trp1241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247821" }, { "coordinates": [ { "allele": "G", "end": 3347, "referenceAllele": "G", "start": 3346 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000456970.6:c.3347G=" ], "proteinEffect": { "hgvs": "ENSP00000405002.2:n.3347G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303727" }, { "coordinates": [ { "allele": "G", "end": 3584, "referenceAllele": "G", "start": 3583 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.4:c.*931G=" ], "proteinEffect": { "hgvs": "ENSP00000483331.1:n.*931G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405655" }, { "coordinates": [ { "allele": "G", "end": 3759, "referenceAllele": "G", "start": 3758 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.5:c.3722G=" ], "proteinEffect": { "hgvs": "NP_001162.4:p.Trp1241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015270" }, { "coordinates": [ { "allele": "G", "end": 3919, "referenceAllele": "G", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.1:c.3689G=" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Trp1230=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089630" }, { "coordinates": [ { "allele": "G", "end": 3707, "referenceAllele": "G", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522480.1:c.3380G=" ], "proteinEffect": { "hgvs": "XP_011520782.1:p.Trp1127=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089631" }, { "coordinates": [ { "allele": "G", "end": 3892, "referenceAllele": "G", "start": 3891 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.1:c.3380G=" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Trp1127=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089632" }, { "coordinates": [ { "allele": "G", "end": 3957, "referenceAllele": "G", "start": 3956 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.1:n.3957G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128735" }, { "coordinates": [ { "allele": "G", "end": 3758, "referenceAllele": "G", "start": 3757 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.1:n.3758G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128736" }, { "coordinates": [ { "allele": "G", "end": 3758, "referenceAllele": "G", "start": 3757 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.1:n.3758G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128737" }, { "coordinates": [ { "allele": "C", "end": 538, "endIntronDirection": "-", "endIntronOffset": 285, "referenceAllele": "C", "start": 538, "startIntronDirection": "-", "startIntronOffset": 286 } ], "hgvs": [ "XR_933134.1:n.539-286C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128911" }, { "coordinates": [ { "allele": "G", "end": 3790, "referenceAllele": "G", "start": 3789 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001351800.1:c.3380G=" ], "proteinEffect": { "hgvs": "NP_001338729.1:p.Trp1127=" }, "referenceSequence": "http://reg.genome.network/refseq/RS520461" }, { "coordinates": [ { "allele": "G", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NR_147784.1:n.3384G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS530836" }, { "coordinates": [ { "allele": "G", "end": 3870, "referenceAllele": "G", "start": 3869 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.2:c.3689G=" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Trp1230=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546607" }, { "coordinates": [ { "allele": "G", "end": 3905, "referenceAllele": "G", "start": 3904 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.3:c.3380G=" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Trp1127=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546608" }, { "coordinates": [ { "allele": "G", "end": 3735, "referenceAllele": "G", "start": 3734 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023212.1:c.3554G=" ], "proteinEffect": { "hgvs": "XP_016878701.1:p.Trp1185=" }, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "G", "end": 3941, "referenceAllele": "G", "start": 3940 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_024450261.1:c.3758G=" ], "proteinEffect": { "hgvs": "XP_024306029.1:p.Trp1253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS583801" }, { "coordinates": [ { "allele": "G", "end": 3903, "referenceAllele": "G", "start": 3902 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.2:n.3903G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610311" }, { "coordinates": [ { "allele": "G", "end": 3703, "referenceAllele": "G", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.3:n.3703G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "G", "end": 3703, "referenceAllele": "G", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.3703G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "@id": "http://reg.genome.network/allele/PA3082811975", "coordinates": [ { "allele": "G", "end": 3782, "referenceAllele": "G", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.3722G=" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Trp1241=" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.3722G=" }, "RefSeq": { "hgvs": "NM_001171.6:c.3722G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Trp1241=" }, "RefSeq": { "hgvs": "NP_001162.5:p.Trp1241=" } } } } ], "type": "nucleotide" }