{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278743", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.1A>G (p.Met1Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178288[alleleid]", "alleleId": 178288, "preferredName": "NM_000260.4(MYO7A):c.1A>G (p.Met1Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179567", "RCV": [ "RCV000156361", "RCV002463651", "RCV003398813", "RCV003764969" ], "variationId": 179567 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76841681A>G?assembly=hg19", "id": "chr11:g.76841681A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77130635A>G?assembly=hg38", "id": "chr11:g.77130635A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/797044518", "rs": 797044518 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-76841681-A-G?dataset=gnomad_r2_1", "id": "11-76841681-A-G", "variant": "11:76841681 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77130635-A-G?dataset=gnomad_r3", "id": "11-77130635-A-G", "variant": "11:77130635 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77130635-A-G?dataset=gnomad_r4", "id": "11-77130635-A-G", "variant": "11:77130635 A / G" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 77130635, "referenceAllele": "A", "start": 77130634 } ], "hgvs": [ "NC_000011.10:g.77130635A>G", "CM000673.2:g.77130635A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 76841681, "referenceAllele": "A", "start": 76841680 } ], "hgvs": [ "NC_000011.9:g.76841681A>G", "CM000673.1:g.76841681A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "G", "end": 76519329, "referenceAllele": "A", "start": 76519328 } ], "hgvs": [ "NC_000011.8:g.76519329A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "G", "end": 7372, "referenceAllele": "A", "start": 7371 } ], "hgvs": [ "NG_009086.1:g.7372A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "G", "end": 7390, "referenceAllele": "A", "start": 7389 } ], "hgvs": [ "NG_009086.2:g.7390A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.1A>G" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Met1Val", "hgvsWellDefined": "ENSP00000386331.3:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.1A>G" }, "RefSeq": { "hgvs": "NM_000260.4:c.1A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Met1Val" }, "RefSeq": { "hgvs": "NP_000251.3:p.Met1Val" } } } }, { "coordinates": [ { "allele": "G", "end": 235, "referenceAllele": "A", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.-113A>G" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:n.-113A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "G", "end": 273, "referenceAllele": "A", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.1A>G" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Met1Val", "hgvsWellDefined": "ENSP00000386331.3:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "G", "end": 267, "referenceAllele": "A", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409893.5:c.1A>G" ], "proteinEffect": { "hgvs": "ENSP00000386689.1:p.Met1Val", "hgvsWellDefined": "ENSP00000386689.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS281942" }, { "coordinates": [ { "allele": "G", "end": 267, "referenceAllele": "A", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.1A>G" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Met1Val", "hgvsWellDefined": "ENSP00000392185.2:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "G", "end": 267, "referenceAllele": "A", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000620575.4:c.1A>G" ], "proteinEffect": { "hgvs": "ENSP00000477640.1:p.Met1Val", "hgvsWellDefined": "ENSP00000477640.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS404890" }, { "@id": "http://reg.genome.network/allele/PA278744", "coordinates": [ { "allele": "G", "end": 273, "referenceAllele": "A", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.1A>G" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Met1Val", "hgvsWellDefined": "NP_000251.3:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "coordinates": [ { "allele": "G", "end": 273, "referenceAllele": "A", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127179.2:c.1A>G" ], "proteinEffect": { "hgvs": "NP_001120651.2:p.Met1Val", "hgvsWellDefined": "NP_001120651.2:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011523" }, { "@id": "http://reg.genome.network/allele/PA915980502", "coordinates": [ { "allele": "G", "end": 267, "referenceAllele": "A", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.1A>G" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Met1Val", "hgvsWellDefined": "NP_001120652.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "G", "end": 319, "referenceAllele": "A", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.1A>G" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Met1Val", "hgvsWellDefined": "XP_005274069.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.1A>G" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Met1Val", "hgvsWellDefined": "XP_006718621.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.1A>G" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Met1Val", "hgvsWellDefined": "XP_006718622.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.1A>G" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Met1Val", "hgvsWellDefined": "XP_006718623.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "G", "end": 319, "referenceAllele": "A", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.1A>G" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Met1Val", "hgvsWellDefined": "XP_006718624.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Met1Val", "hgvsWellDefined": "XP_011543346.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Met1Val", "hgvsWellDefined": "XP_011543347.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Met1Val", "hgvsWellDefined": "XP_011543349.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Met1Val", "hgvsWellDefined": "XP_011543350.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Met1Val", "hgvsWellDefined": "XP_011543351.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Met1Val", "hgvsWellDefined": "XP_011543353.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "G", "end": 322, "referenceAllele": "A", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545052.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543354.1:p.Met1Val", "hgvsWellDefined": "XP_011543354.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS111959" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.321A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.321A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "G", "end": 323, "referenceAllele": "A", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949942.1:n.323A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS143253" }, { "coordinates": [ { "allele": "G", "end": 323, "referenceAllele": "A", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949943.1:n.323A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS143254" }, { "coordinates": [ { "allele": "G", "end": 345, "referenceAllele": "A", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.1A>G" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Met1Val", "hgvsWellDefined": "XP_011543346.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "@id": "http://reg.genome.network/allele/PA278744", "coordinates": [ { "allele": "G", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.1A>G" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Met1Val", "hgvsWellDefined": "NP_000251.3:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.1A>G" }, "RefSeq": { "hgvs": "NM_000260.4:c.1A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Met1Val" }, "RefSeq": { "hgvs": "NP_000251.3:p.Met1Val" } } } }, { "@id": "http://reg.genome.network/allele/PA915980502", "coordinates": [ { "allele": "G", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.1A>G" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Met1Val", "hgvsWellDefined": "NP_001120652.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "coordinates": [ { "allele": "G", "end": 291, "referenceAllele": "A", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.-113A>G" ], "proteinEffect": { "hgvs": "NP_001356294.1:n.-113A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }