{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374937819", "communityStandardTitle": [ "NM_001032221.6(STXBP1):c.1408G>A (p.Glu470Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2182957[alleleid]", "alleleId": 2182957, "preferredName": "NM_001032221.6(STXBP1):c.1408G>A (p.Glu470Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2117316", "RCV": [ "RCV003027677" ], "variationId": 2117316 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.130440758G>A?assembly=hg19", "id": "chr9:g.130440758G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.127678479G>A?assembly=hg38", "id": "chr9:g.127678479G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519539", "rs": 1057519539 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-127678479-G-A?dataset=gnomad_r3", "id": "9-127678479-G-A", "variant": "9:127678479 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-127678479-G-A?dataset=gnomad_r4", "id": "9-127678479-G-A", "variant": "9:127678479 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 127678479, "referenceAllele": "G", "start": 127678478 } ], "hgvs": [ "NC_000009.12:g.127678479G>A", "CM000671.2:g.127678479G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 130440758, "referenceAllele": "G", "start": 130440757 } ], "hgvs": [ "NC_000009.11:g.130440758G>A", "CM000671.1:g.130440758G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 129480579, "referenceAllele": "G", "start": 129480578 } ], "hgvs": [ "NC_000009.10:g.129480579G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 71273, "referenceAllele": "G", "start": 71272 } ], "hgvs": [ "NG_016623.1:g.71273G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003236" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000704680.1:c.1366G>A" ], "proteinEffect": { "hgvs": "ENSP00000515991.1:p.Glu456Lys", "hgvsWellDefined": "ENSP00000515991.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS912400" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "G", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000704681.1:c.1353G>A" ], "proteinEffect": { "hgvs": "ENSP00000515992.1:n.1353G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912401" }, { "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373299.5:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000362396.2:p.Glu470Lys", "hgvsWellDefined": "ENSP00000362396.2:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS751202", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373299.5:c.1408G>A" }, "RefSeq": { "hgvs": "NM_001032221.6:c.1408G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362396.2:p.Glu470Lys" }, "RefSeq": { "hgvs": "NP_001027392.1:p.Glu470Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373302.8:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000362399.3:p.Glu470Lys", "hgvsWellDefined": "ENSP00000362399.3:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS751203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.1408G>A" }, "RefSeq": { "hgvs": "NM_003165.6:c.1408G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Glu470Lys" }, "RefSeq": { "hgvs": "NP_003156.1:p.Glu470Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000626539.3:c.1366G>A" ], "proteinEffect": { "hgvs": "ENSP00000487211.2:p.Glu456Lys", "hgvsWellDefined": "ENSP00000487211.2:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762476" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000635950.2:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000490903.1:p.Glu470Lys", "hgvsWellDefined": "ENSP00000490903.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762760" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000636509.2:c.*363G>A" ], "proteinEffect": { "hgvs": "ENSP00000490810.1:n.*363G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763169" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000636962.2:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000489762.1:p.Glu470Lys", "hgvsWellDefined": "ENSP00000489762.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763509" }, { "coordinates": [ { "allele": "A", "end": 1570, "referenceAllele": "G", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637060.2:c.*1050G>A" ], "proteinEffect": { "hgvs": "ENSP00000490674.2:n.*1050G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763580" }, { "coordinates": [ { "allele": "A", "end": 1737, "referenceAllele": "G", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637173.2:c.1366G>A" ], "proteinEffect": { "hgvs": "ENSP00000490519.1:p.Glu456Lys", "hgvsWellDefined": "ENSP00000490519.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763665" }, { "coordinates": [ { "allele": "A", "end": 2638, "referenceAllele": "G", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637464.2:c.*2272G>A" ], "proteinEffect": { "hgvs": "ENSP00000489655.2:n.*2272G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763879" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "G", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637521.2:c.1366G>A" ], "proteinEffect": { "hgvs": "ENSP00000489791.1:p.Glu456Lys", "hgvsWellDefined": "ENSP00000489791.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS763917" }, { "coordinates": [ { "allele": "A", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000637953.1:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000490613.1:p.Glu470Lys", "hgvsWellDefined": "ENSP00000490613.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764235" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000647107.1:c.1350G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769236" }, { "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "G", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000650920.1:c.1366G>A" ], "proteinEffect": { "hgvs": "ENSP00000498834.1:p.Glu456Lys", "hgvsWellDefined": "ENSP00000498834.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS771384" }, { "coordinates": [ { "allele": "A", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373299.4:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000362396.1:p.Glu470Lys", "hgvsWellDefined": "ENSP00000362396.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS269616" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000373302.7:c.1408G>A" ], "proteinEffect": { "hgvs": "ENSP00000362399.3:p.Glu470Lys", "hgvsWellDefined": "ENSP00000362399.3:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS269617" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "ENST00000626416.2:n.1244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS406734" }, { "@id": "http://reg.genome.network/allele/PA2825360253", "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001032221.3:c.1408G>A" ], "proteinEffect": { "hgvs": "NP_001027392.1:p.Glu470Lys", "hgvsWellDefined": "NP_001027392.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS009051" }, { "@id": "http://reg.genome.network/allele/PA2580288185", "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.3:c.1408G>A" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Glu470Lys", "hgvsWellDefined": "NP_003156.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS028433" }, { "@id": "http://reg.genome.network/allele/PA2825360253", "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001032221.6:c.1408G>A" ], "proteinEffect": { "hgvs": "NP_001027392.1:p.Glu470Lys", "hgvsWellDefined": "NP_001027392.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS675754", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373299.5:c.1408G>A" }, "RefSeq": { "hgvs": "NM_001032221.6:c.1408G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362396.2:p.Glu470Lys" }, "RefSeq": { "hgvs": "NP_001027392.1:p.Glu470Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2828497115", "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "G", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374306.2:c.1399G>A" ], "proteinEffect": { "hgvs": "NP_001361235.1:p.Glu467Lys", "hgvsWellDefined": "NP_001361235.1:p.Glu467Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693213" }, { "@id": "http://reg.genome.network/allele/PA2828497683", "coordinates": [ { "allele": "A", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374307.2:c.1366G>A" ], "proteinEffect": { "hgvs": "NP_001361236.1:p.Glu456Lys", "hgvsWellDefined": "NP_001361236.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693214" }, { "@id": "http://reg.genome.network/allele/PA2828498264", "coordinates": [ { "allele": "A", "end": 1725, "referenceAllele": "G", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374308.2:c.1366G>A" ], "proteinEffect": { "hgvs": "NP_001361237.1:p.Glu456Lys", "hgvsWellDefined": "NP_001361237.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693215" }, { "@id": "http://reg.genome.network/allele/PA2828498845", "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374309.2:c.1366G>A" ], "proteinEffect": { "hgvs": "NP_001361238.1:p.Glu456Lys", "hgvsWellDefined": "NP_001361238.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693216" }, { "@id": "http://reg.genome.network/allele/PA2828499413", "coordinates": [ { "allele": "A", "end": 1725, "referenceAllele": "G", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374310.2:c.1366G>A" ], "proteinEffect": { "hgvs": "NP_001361239.1:p.Glu456Lys", "hgvsWellDefined": "NP_001361239.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693217" }, { "@id": "http://reg.genome.network/allele/PA2828499981", "coordinates": [ { "allele": "A", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374311.2:c.1366G>A" ], "proteinEffect": { "hgvs": "NP_001361240.1:p.Glu456Lys", "hgvsWellDefined": "NP_001361240.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693218" }, { "@id": "http://reg.genome.network/allele/PA2828500526", "coordinates": [ { "allele": "A", "end": 1637, "referenceAllele": "G", "start": 1636 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374312.2:c.1366G>A" ], "proteinEffect": { "hgvs": "NP_001361241.1:p.Glu456Lys", "hgvsWellDefined": "NP_001361241.1:p.Glu456Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693219" }, { "@id": "http://reg.genome.network/allele/PA2828501113", "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374313.2:c.1408G>A" ], "proteinEffect": { "hgvs": "NP_001361242.1:p.Glu470Lys", "hgvsWellDefined": "NP_001361242.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693220" }, { "@id": "http://reg.genome.network/allele/PA2828501690", "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374314.1:c.1408G>A" ], "proteinEffect": { "hgvs": "NP_001361243.1:p.Glu470Lys", "hgvsWellDefined": "NP_001361243.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693221" }, { "@id": "http://reg.genome.network/allele/PA2828502223", "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_001374315.2:c.1300G>A" ], "proteinEffect": { "hgvs": "NP_001361244.1:p.Glu434Lys", "hgvsWellDefined": "NP_001361244.1:p.Glu434Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693222" }, { "@id": "http://reg.genome.network/allele/PA2580288185", "coordinates": [ { "allele": "A", "end": 1535, "referenceAllele": "G", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN011444", "geneNCBI_id": 6812, "geneSymbol": "STXBP1", "hgvs": [ "NM_003165.6:c.1408G>A" ], "proteinEffect": { "hgvs": "NP_003156.1:p.Glu470Lys", "hgvsWellDefined": "NP_003156.1:p.Glu470Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS695748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373302.8:c.1408G>A" }, "RefSeq": { "hgvs": "NM_003165.6:c.1408G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362399.3:p.Glu470Lys" }, "RefSeq": { "hgvs": "NP_003156.1:p.Glu470Lys" } } } } ], "type": "nucleotide" }