{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7160639", "communityStandardTitle": [ "NM_001310135.5(TTC6):c.4067T>G (p.Ile1356Ser)" ], "externalRecords": { "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-38273922-T-G", "id": "14-38273922-T-G", "variant": "14:38273922 T / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.38273922T>G?assembly=hg19", "id": "chr14:g.38273922T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.37804717T>G?assembly=hg38", "id": "chr14:g.37804717T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/12896790", "rs": 12896790 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-38273922-T-G?dataset=gnomad_r2_1", "id": "14-38273922-T-G", "variant": "14:38273922 T / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-37804717-T-G?dataset=gnomad_r3", "id": "14-37804717-T-G", "variant": "14:37804717 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-37804717-T-G?dataset=gnomad_r4", "id": "14-37804717-T-G", "variant": "14:37804717 T / G" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 37804717, "referenceAllele": "T", "start": 37804716 } ], "hgvs": [ "NC_000014.9:g.37804717T>G", "CM000676.2:g.37804717T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 38273922, "referenceAllele": "T", "start": 38273921 } ], "hgvs": [ "NC_000014.8:g.38273922T>G", "CM000676.1:g.38273922T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "G", "end": 37343673, "referenceAllele": "T", "start": 37343672 } ], "hgvs": [ "NC_000014.7:g.37343673T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4542, "referenceAllele": "T", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000553443.6:c.4067T>G" ], "proteinEffect": { "hgvs": "ENSP00000451131.1:p.Ile1356Ser", "hgvsWellDefined": "ENSP00000451131.1:p.Ile1356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS905851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000553443.6:c.4067T>G" }, "RefSeq": { "hgvs": "NM_001310135.5:c.4067T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000451131.1:p.Ile1356Ser" }, "RefSeq": { "hgvs": "NP_001297064.2:p.Ile1356Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "T", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000267368.11:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000267368.7:p.Ile87Ser", "hgvsWellDefined": "ENSP00000267368.7:p.Ile87Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS251984" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "T", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000382320.4:c.209T>G" ], "proteinEffect": { "hgvs": "ENSP00000371757.4:p.Ile70Ser", "hgvsWellDefined": "ENSP00000371757.4:p.Ile70Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS273703" }, { "coordinates": [ { "allele": "G", "end": 547, "referenceAllele": "T", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000476979.5:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000417788.1:p.Ile87Ser", "hgvsWellDefined": "ENSP00000417788.1:p.Ile87Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS317905" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "T", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000478811.6:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000419204.2:p.Ile87Ser", "hgvsWellDefined": "ENSP00000419204.2:p.Ile87Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS319330" }, { "coordinates": [ { "allele": "G", "end": 2511, "endIntronDirection": "+", "endIntronOffset": 65562, "referenceAllele": "T", "start": 2511, "startIntronDirection": "+", "startIntronOffset": 65561 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000533625.5:c.*1062+65562T>G" ], "proteinEffect": { "hgvs": "ENSP00000451566.1:n.*1062+65562T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS358366" }, { "coordinates": [ { "allele": "G", "end": 4067, "referenceAllele": "T", "start": 4066 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "ENST00000553443.5:c.4067T>G" ], "proteinEffect": { "hgvs": "ENSP00000451131.1:p.Ile1356Ser", "hgvsWellDefined": "ENSP00000451131.1:p.Ile1356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS369863" }, { "coordinates": [ { "allele": "G", "end": 4972, "referenceAllele": "T", "start": 4971 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "NM_001310135.1:c.4115T>G" ], "proteinEffect": { "hgvs": "NP_001297064.1:p.Ile1372Ser", "hgvsWellDefined": "NP_001297064.1:p.Ile1372Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS026383" }, { "coordinates": [ { "allele": "G", "end": 2775, "referenceAllele": "T", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_011537430.1:c.2672T>G" ], "proteinEffect": { "hgvs": "XP_011535732.1:p.Ile891Ser", "hgvsWellDefined": "XP_011535732.1:p.Ile891Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS104395" }, { "coordinates": [ { "allele": "G", "end": 2437, "referenceAllele": "T", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_011537431.1:c.2354T>G" ], "proteinEffect": { "hgvs": "XP_011535733.1:p.Ile785Ser", "hgvsWellDefined": "XP_011535733.1:p.Ile785Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS104396" }, { "coordinates": [ { "allele": "G", "end": 4972, "referenceAllele": "T", "start": 4971 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XR_943762.1:n.4972T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS137758" }, { "coordinates": [ { "allele": "G", "end": 2780, "referenceAllele": "T", "start": 2779 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_011537430.2:c.2672T>G" ], "proteinEffect": { "hgvs": "XP_011535732.1:p.Ile891Ser", "hgvsWellDefined": "XP_011535732.1:p.Ile891Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS552895" }, { "coordinates": [ { "allele": "G", "end": 2437, "referenceAllele": "T", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_011537431.2:c.2354T>G" ], "proteinEffect": { "hgvs": "XP_011535733.1:p.Ile785Ser", "hgvsWellDefined": "XP_011535733.1:p.Ile785Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS552896" }, { "coordinates": [ { "allele": "G", "end": 4972, "referenceAllele": "T", "start": 4971 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_017021254.1:c.4115T>G" ], "proteinEffect": { "hgvs": "XP_016876743.1:p.Ile1372Ser", "hgvsWellDefined": "XP_016876743.1:p.Ile1372Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS572508" }, { "coordinates": [ { "allele": "G", "end": 4934, "endIntronDirection": "-", "endIntronOffset": 2602, "referenceAllele": "T", "start": 4934, "startIntronDirection": "-", "startIntronOffset": 2603 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_017021255.1:c.4078-2603T>G" ], "proteinEffect": { "hgvs": "XP_016876744.1:n.4078-2603T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS572509" }, { "coordinates": [ { "allele": "G", "end": 5062, "referenceAllele": "T", "start": 5061 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_017021256.1:c.3116T>G" ], "proteinEffect": { "hgvs": "XP_016876745.1:p.Ile1039Ser", "hgvsWellDefined": "XP_016876745.1:p.Ile1039Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS572510" }, { "coordinates": [ { "allele": "G", "end": 4818, "referenceAllele": "T", "start": 4817 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XM_024449560.1:c.4115T>G" ], "proteinEffect": { "hgvs": "XP_024305328.1:p.Ile1372Ser", "hgvsWellDefined": "XP_024305328.1:p.Ile1372Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS583108" }, { "coordinates": [ { "allele": "G", "end": 4972, "referenceAllele": "T", "start": 4971 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "XR_943762.2:n.4972T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS613506" }, { "coordinates": [ { "allele": "G", "end": 4542, "referenceAllele": "T", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "NM_001310135.2:c.4115T>G" ], "proteinEffect": { "hgvs": "NP_001297064.1:p.Ile1372Ser", "hgvsWellDefined": "NP_001297064.1:p.Ile1372Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS684052" }, { "coordinates": [ { "allele": "G", "end": 547, "referenceAllele": "T", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "NM_001368142.1:c.260T>G" ], "proteinEffect": { "hgvs": "NP_001355071.1:p.Ile87Ser", "hgvsWellDefined": "NP_001355071.1:p.Ile87Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS691372" }, { "coordinates": [ { "allele": "G", "end": 4542, "referenceAllele": "T", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "NM_001310135.3:c.4115T>G" ], "proteinEffect": { "hgvs": "NP_001297064.1:p.Ile1372Ser", "hgvsWellDefined": "NP_001297064.1:p.Ile1372Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS717305" }, { "coordinates": [ { "allele": "G", "end": 547, "referenceAllele": "T", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "NM_001368142.2:c.260T>G" ], "proteinEffect": { "hgvs": "NP_001355071.1:p.Ile87Ser", "hgvsWellDefined": "NP_001355071.1:p.Ile87Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS721081" }, { "@id": "http://reg.genome.network/allele/PA3081101813", "coordinates": [ { "allele": "G", "end": 4542, "referenceAllele": "T", "start": 4541 } ], "gene": "http://reg.genome.network/gene/GN019739", "geneNCBI_id": 319089, "geneSymbol": "TTC6", "hgvs": [ "NM_001310135.5:c.4067T>G" ], "proteinEffect": { "hgvs": "NP_001297064.2:p.Ile1356Ser", "hgvsWellDefined": "NP_001297064.2:p.Ile1356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS781843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000553443.6:c.4067T>G" }, "RefSeq": { "hgvs": "NM_001310135.5:c.4067T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000451131.1:p.Ile1356Ser" }, "RefSeq": { "hgvs": "NP_001297064.2:p.Ile1356Ser" } } } } ], "type": "nucleotide" }