{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA214979", "communityStandardTitle": [ "NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39606[alleleid]", "alleleId": 39606, "preferredName": "NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30649", "RCV": [ "RCV000023624" ], "variationId": 30649 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.45972687A>G?assembly=hg19", "id": "chr3:g.45972687A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.45931195A>G?assembly=hg38", "id": "chr3:g.45931195A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387906965", "rs": 387906965 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-45972687-A-G?dataset=gnomad_r2_1", "id": "3-45972687-A-G", "variant": "3:45972687 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-45931195-A-G?dataset=gnomad_r4", "id": "3-45931195-A-G", "variant": "3:45931195 A / G" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 45931195, "referenceAllele": "A", "start": 45931194 } ], "hgvs": [ "NC_000003.12:g.45931195A>G", "CM000665.2:g.45931195A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 45972687, "referenceAllele": "A", "start": 45972686 } ], "hgvs": [ "NC_000003.11:g.45972687A>G", "CM000665.1:g.45972687A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 45947691, "referenceAllele": "A", "start": 45947690 } ], "hgvs": [ "NC_000003.10:g.45947691A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "C", "end": 69630, "referenceAllele": "T", "start": 69629 } ], "hgvs": [ "NG_031955.1:g.69630T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS005051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 260, "referenceAllele": "T", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "ENST00000691721.1:n.260T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS833348" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "ENST00000296137.7:c.4127T>C" ], "proteinEffect": { "hgvs": "ENSP00000296137.2:p.Leu1376Pro", "hgvsWellDefined": "ENSP00000296137.2:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS744376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296137.7:c.4127T>C" }, "RefSeq": { "hgvs": "NM_024513.4:c.4127T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296137.2:p.Leu1376Pro" }, "RefSeq": { "hgvs": "NP_078789.2:p.Leu1376Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 4333, "referenceAllele": "T", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "ENST00000296137.6:c.4127T>C" ], "proteinEffect": { "hgvs": "ENSP00000296137.2:p.Leu1376Pro", "hgvsWellDefined": "ENSP00000296137.2:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS254244" }, { "coordinates": [ { "allele": "C", "end": 493, "referenceAllele": "T", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "ENST00000433878.5:c.493T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS292755" }, { "coordinates": [ { "allele": "C", "end": 582, "referenceAllele": "T", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "ENST00000438446.1:c.140T>C" ], "proteinEffect": { "hgvs": "ENSP00000398517.1:p.Leu47Pro", "hgvsWellDefined": "ENSP00000398517.1:p.Leu47Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS294942" }, { "coordinates": [ { "allele": "C", "end": 4402, "referenceAllele": "T", "start": 4401 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "ENST00000535325.5:c.4187T>C" ], "proteinEffect": { "hgvs": "ENSP00000441178.1:p.Leu1396Pro", "hgvsWellDefined": "ENSP00000441178.1:p.Leu1396Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS359662" }, { "@id": "http://reg.genome.network/allele/PA113517", "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_024513.3:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_078789.2:p.Leu1376Pro", "hgvsWellDefined": "NP_078789.2:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS037785" }, { "coordinates": [ { "allele": "C", "end": 4481, "referenceAllele": "T", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_006713333.2:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_006713396.1:p.Leu1376Pro", "hgvsWellDefined": "XP_006713396.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS070111" }, { "coordinates": [ { "allele": "C", "end": 4397, "referenceAllele": "T", "start": 4396 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_006713334.2:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_006713397.1:p.Leu1376Pro", "hgvsWellDefined": "XP_006713397.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS070112" }, { "coordinates": [ { "allele": "C", "end": 4410, "referenceAllele": "T", "start": 4409 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_011534111.1:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_011532413.1:p.Leu1376Pro", "hgvsWellDefined": "XP_011532413.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS101129" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_011534112.1:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_011532414.1:p.Leu1376Pro", "hgvsWellDefined": "XP_011532414.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS101130" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XR_245157.1:n.4342T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS116917" }, { "coordinates": [ { "allele": "C", "end": 5507, "referenceAllele": "T", "start": 5506 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_006713333.3:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_006713396.1:p.Leu1376Pro", "hgvsWellDefined": "XP_006713396.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS538481" }, { "coordinates": [ { "allele": "C", "end": 5423, "referenceAllele": "T", "start": 5422 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_006713334.3:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_006713397.1:p.Leu1376Pro", "hgvsWellDefined": "XP_006713397.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS538482" }, { "coordinates": [ { "allele": "C", "end": 4419, "referenceAllele": "T", "start": 4418 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XM_011534111.3:c.4127T>C" ], "proteinEffect": { "hgvs": "XP_011532413.1:p.Leu1376Pro", "hgvsWellDefined": "XP_011532413.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS551520" }, { "coordinates": [ { "allele": "C", "end": 4223, "referenceAllele": "T", "start": 4222 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "XR_001740265.1:n.4223T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS590476" }, { "@id": "http://reg.genome.network/allele/PA113517", "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_024513.4:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_078789.2:p.Leu1376Pro", "hgvsWellDefined": "NP_078789.2:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS670659", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000296137.7:c.4127T>C" }, "RefSeq": { "hgvs": "NM_024513.4:c.4127T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000296137.2:p.Leu1376Pro" }, "RefSeq": { "hgvs": "NP_078789.2:p.Leu1376Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 4426, "referenceAllele": "T", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386421.1:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_001373350.1:p.Leu1376Pro", "hgvsWellDefined": "NP_001373350.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724502" }, { "coordinates": [ { "allele": "C", "end": 4390, "referenceAllele": "T", "start": 4389 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386422.1:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_001373351.1:p.Leu1376Pro", "hgvsWellDefined": "NP_001373351.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724503" }, { "coordinates": [ { "allele": "C", "end": 4339, "referenceAllele": "T", "start": 4338 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386423.1:c.4124T>C" ], "proteinEffect": { "hgvs": "NP_001373352.1:p.Leu1375Pro", "hgvsWellDefined": "NP_001373352.1:p.Leu1375Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724504" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386424.1:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_001373353.1:p.Leu1376Pro", "hgvsWellDefined": "NP_001373353.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724505" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386425.1:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_001373354.1:p.Leu1376Pro", "hgvsWellDefined": "NP_001373354.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724506" }, { "coordinates": [ { "allele": "C", "end": 4235, "referenceAllele": "T", "start": 4234 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386426.1:c.4007T>C" ], "proteinEffect": { "hgvs": "NP_001373355.1:p.Leu1336Pro", "hgvsWellDefined": "NP_001373355.1:p.Leu1336Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724507" }, { "coordinates": [ { "allele": "C", "end": 4198, "referenceAllele": "T", "start": 4197 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386427.1:c.3983T>C" ], "proteinEffect": { "hgvs": "NP_001373356.1:p.Leu1328Pro", "hgvsWellDefined": "NP_001373356.1:p.Leu1328Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724508" }, { "coordinates": [ { "allele": "C", "end": 4426, "referenceAllele": "T", "start": 4425 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386428.1:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_001373357.1:p.Leu1376Pro", "hgvsWellDefined": "NP_001373357.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724509" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386429.1:c.4127T>C" ], "proteinEffect": { "hgvs": "NP_001373358.1:p.Leu1376Pro", "hgvsWellDefined": "NP_001373358.1:p.Leu1376Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724510" }, { "coordinates": [ { "allele": "C", "end": 3858, "referenceAllele": "T", "start": 3857 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NM_001386430.1:c.3527T>C" ], "proteinEffect": { "hgvs": "NP_001373359.1:p.Leu1176Pro", "hgvsWellDefined": "NP_001373359.1:p.Leu1176Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS724511" }, { "coordinates": [ { "allele": "C", "end": 4342, "referenceAllele": "T", "start": 4341 } ], "gene": "http://reg.genome.network/gene/GN014673", "geneNCBI_id": 79443, "geneSymbol": "FYCO1", "hgvs": [ "NR_170107.1:n.4342T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS732450" } ], "type": "nucleotide" }