{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA407436581", "communityStandardTitle": [ "NM_003283.6(TNNT1):c.192T>A (p.Asp64Glu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.55653225A>T?assembly=hg19", "id": "chr19:g.55653225A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.55141857A>T?assembly=hg38", "id": "chr19:g.55141857A>T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 55141857, "referenceAllele": "A", "start": 55141856 } ], "hgvs": [ "NC_000019.10:g.55141857A>T", "CM000681.2:g.55141857A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 55653225, "referenceAllele": "A", "start": 55653224 } ], "hgvs": [ "NC_000019.9:g.55653225A>T", "CM000681.1:g.55653225A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 60345037, "referenceAllele": "A", "start": 60345036 } ], "hgvs": [ "NC_000019.8:g.60345037A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 12382, "referenceAllele": "T", "start": 12381 } ], "hgvs": [ "NG_011829.2:g.12382T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002009" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 249, "referenceAllele": "T", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000588981.6:c.192T>A" ], "proteinEffect": { "hgvs": "ENSP00000467176.1:p.Asp64Glu", "hgvsWellDefined": "ENSP00000467176.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS761142", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588981.6:c.192T>A" }, "RefSeq": { "hgvs": "NM_003283.6:c.192T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467176.1:p.Asp64Glu" }, "RefSeq": { "hgvs": "NP_003274.3:p.Asp64Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 249, "referenceAllele": "T", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000291901.12:c.192T>A" ], "proteinEffect": { "hgvs": "ENSP00000291901.8:p.Asp64Glu", "hgvsWellDefined": "ENSP00000291901.8:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS253772" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000356783.9:c.159T>A" ], "proteinEffect": { "hgvs": "ENSP00000349233.4:p.Asp53Glu", "hgvsWellDefined": "ENSP00000349233.4:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS263872" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "T", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000536926.5:c.-19T>A" ], "proteinEffect": { "hgvs": "ENSP00000439640.2:n.-19T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS360507" }, { "coordinates": [ { "allele": "A", "end": 348, "referenceAllele": "T", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000585321.6:c.-19T>A" ], "proteinEffect": { "hgvs": "ENSP00000467980.2:n.-19T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS388647" }, { "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "T", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000587089.6:c.244T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389834" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "T", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000587465.6:c.-19T>A" ], "proteinEffect": { "hgvs": "ENSP00000464843.2:n.-19T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390098" }, { "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "T", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000587758.5:c.159T>A" ], "proteinEffect": { "hgvs": "ENSP00000467789.1:p.Asp53Glu", "hgvsWellDefined": "ENSP00000467789.1:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS390303" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "T", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000588147.5:c.180T>A" ], "proteinEffect": { "hgvs": "ENSP00000467299.1:p.Asp60Glu", "hgvsWellDefined": "ENSP00000467299.1:p.Asp60Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS390582" }, { "coordinates": [ { "allele": "A", "end": 130, "endIntronDirection": "-", "endIntronOffset": 944, "referenceAllele": "T", "start": 130, "startIntronDirection": "-", "startIntronOffset": 945 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000588426.5:c.49-945T>A" ], "proteinEffect": { "hgvs": "ENSP00000465991.1:n.49-945T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390763" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "T", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000588981.5:c.192T>A" ], "proteinEffect": { "hgvs": "ENSP00000467176.1:p.Asp64Glu", "hgvsWellDefined": "ENSP00000467176.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS391169" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "T", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000589226.5:c.159T>A" ], "proteinEffect": { "hgvs": "ENSP00000470854.1:p.Asp53Glu", "hgvsWellDefined": "ENSP00000470854.1:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS391344" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000592920.5:n.270T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393894" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "T", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000593046.5:c.192T>A" ], "proteinEffect": { "hgvs": "ENSP00000470777.1:p.Asp64Glu", "hgvsWellDefined": "ENSP00000470777.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS393977" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "ENST00000593194.5:c.35T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394081" }, { "@id": "http://reg.genome.network/allele/PA2825622885", "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "T", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_001126132.2:c.192T>A" ], "proteinEffect": { "hgvs": "NP_001119604.1:p.Asp64Glu", "hgvsWellDefined": "NP_001119604.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011504" }, { "@id": "http://reg.genome.network/allele/PA2825623101", "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "T", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_001126133.2:c.159T>A" ], "proteinEffect": { "hgvs": "NP_001119605.1:p.Asp53Glu", "hgvsWellDefined": "NP_001119605.1:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011505" }, { "@id": "http://reg.genome.network/allele/PA2826808503", "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "T", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_001291774.1:c.159T>A" ], "proteinEffect": { "hgvs": "NP_001278703.1:p.Asp53Glu", "hgvsWellDefined": "NP_001278703.1:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024314" }, { "@id": "http://reg.genome.network/allele/PA2580290295", "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "T", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_003283.5:c.192T>A" ], "proteinEffect": { "hgvs": "NP_003274.3:p.Asp64Glu", "hgvsWellDefined": "NP_003274.3:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS028535" }, { "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "T", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_006723343.2:c.228T>A" ], "proteinEffect": { "hgvs": "XP_006723406.1:p.Asp76Glu", "hgvsWellDefined": "XP_006723406.1:p.Asp76Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS075009" }, { "coordinates": [ { "allele": "A", "end": 227, "referenceAllele": "T", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_011527243.1:c.216T>A" ], "proteinEffect": { "hgvs": "XP_011525545.1:p.Asp72Glu", "hgvsWellDefined": "XP_011525545.1:p.Asp72Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094337" }, { "coordinates": [ { "allele": "A", "end": 206, "referenceAllele": "T", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_011527244.1:c.195T>A" ], "proteinEffect": { "hgvs": "XP_011525546.1:p.Asp65Glu", "hgvsWellDefined": "XP_011525546.1:p.Asp65Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094338" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "T", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_011527245.1:c.192T>A" ], "proteinEffect": { "hgvs": "XP_011525547.1:p.Asp64Glu", "hgvsWellDefined": "XP_011525547.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094339" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "T", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_011527246.1:c.180T>A" ], "proteinEffect": { "hgvs": "XP_011525548.1:p.Asp60Glu", "hgvsWellDefined": "XP_011525548.1:p.Asp60Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS094340" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "T", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_011527246.3:c.180T>A" ], "proteinEffect": { "hgvs": "XP_011525548.1:p.Asp60Glu", "hgvsWellDefined": "XP_011525548.1:p.Asp60Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548591" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "T", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_017027186.1:c.192T>A" ], "proteinEffect": { "hgvs": "XP_016882675.1:p.Asp64Glu", "hgvsWellDefined": "XP_016882675.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS577167" }, { "coordinates": [ { "allele": "A", "end": 458, "referenceAllele": "T", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "XM_017027187.1:c.180T>A" ], "proteinEffect": { "hgvs": "XP_016882676.1:p.Asp60Glu", "hgvsWellDefined": "XP_016882676.1:p.Asp60Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS577168" }, { "@id": "http://reg.genome.network/allele/PA2580290295", "coordinates": [ { "allele": "A", "end": 249, "referenceAllele": "T", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_003283.6:c.192T>A" ], "proteinEffect": { "hgvs": "NP_003274.3:p.Asp64Glu", "hgvsWellDefined": "NP_003274.3:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS665967", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000588981.6:c.192T>A" }, "RefSeq": { "hgvs": "NM_003283.6:c.192T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467176.1:p.Asp64Glu" }, "RefSeq": { "hgvs": "NP_003274.3:p.Asp64Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825622885", "coordinates": [ { "allele": "A", "end": 249, "referenceAllele": "T", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_001126132.3:c.192T>A" ], "proteinEffect": { "hgvs": "NP_001119604.1:p.Asp64Glu", "hgvsWellDefined": "NP_001119604.1:p.Asp64Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676826" }, { "@id": "http://reg.genome.network/allele/PA2825623101", "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_001126133.3:c.159T>A" ], "proteinEffect": { "hgvs": "NP_001119605.1:p.Asp53Glu", "hgvsWellDefined": "NP_001119605.1:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676827" }, { "@id": "http://reg.genome.network/allele/PA2826808503", "coordinates": [ { "allele": "A", "end": 311, "referenceAllele": "T", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN011948", "geneNCBI_id": 7138, "geneSymbol": "TNNT1", "hgvs": [ "NM_001291774.2:c.159T>A" ], "proteinEffect": { "hgvs": "NP_001278703.1:p.Asp53Glu", "hgvsWellDefined": "NP_001278703.1:p.Asp53Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS682863" } ], "type": "nucleotide" }