{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7237630", "communityStandardTitle": [ "NM_004569.5(PIGH):c.1A>T (p.Met1Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536130[alleleid]", "alleleId": 536130, "preferredName": "NM_004569.5(PIGH):c.1A>T (p.Met1Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545630", "RCV": [ "RCV000656656" ], "variationId": 545630 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-68066920-T-A", "id": "14-68066920-T-A", "variant": "14:68066920 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.68066920T>A?assembly=hg19", "id": "chr14:g.68066920T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.67600203T>A?assembly=hg38", "id": "chr14:g.67600203T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761543313", "rs": 761543313 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-68066920-T-A?dataset=gnomad_r2_1", "id": "14-68066920-T-A", "variant": "14:68066920 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-67600203-T-A?dataset=gnomad_r4", "id": "14-67600203-T-A", "variant": "14:67600203 T / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 67600203, "referenceAllele": "T", "start": 67600202 } ], "hgvs": [ "NC_000014.9:g.67600203T>A", "CM000676.2:g.67600203T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 68066920, "referenceAllele": "T", "start": 68066919 } ], "hgvs": [ "NC_000014.8:g.68066920T>A", "CM000676.1:g.68066920T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 67136673, "referenceAllele": "T", "start": 67136672 } ], "hgvs": [ "NC_000014.7:g.67136673T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 5100, "referenceAllele": "A", "start": 5099 } ], "hgvs": [ "NG_050632.2:g.5100A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616752" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "A", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000216452.9:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000216452.4:p.Met1Leu", "hgvsWellDefined": "ENSP00000216452.4:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740314", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216452.9:c.1A>T" }, "RefSeq": { "hgvs": "NM_004569.5:c.1A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216452.4:p.Met1Leu" }, "RefSeq": { "hgvs": "NP_004560.1:p.Met1Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 85, "referenceAllele": "A", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000216452.8:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000216452.4:p.Met1Leu", "hgvsWellDefined": "ENSP00000216452.4:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS248011" }, { "coordinates": [ { "allele": "T", "end": 80, "referenceAllele": "A", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000558001.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000454061.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000454061.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS373476" }, { "coordinates": [ { "allele": "T", "end": 63, "referenceAllele": "A", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000558198.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000452924.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000452924.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS373625" }, { "coordinates": [ { "allele": "T", "end": 84, "referenceAllele": "A", "start": 83 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000559097.1:n.84A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374306" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "A", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000559415.1:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000452996.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000452996.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS374562" }, { "coordinates": [ { "allele": "T", "end": 65, "referenceAllele": "A", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000559581.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000453733.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000453733.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS374696" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "A", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000560722.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000453394.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000453394.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS375561" }, { "coordinates": [ { "allele": "T", "end": 44, "referenceAllele": "A", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "ENST00000561303.5:c.1A>T" ], "proteinEffect": { "hgvs": "ENSP00000452974.1:p.Met1Leu", "hgvsWellDefined": "ENSP00000452974.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS376006" }, { "@id": "http://reg.genome.network/allele/PA658828777", "coordinates": [ { "allele": "T", "end": 98, "referenceAllele": "A", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "NM_004569.3:c.1A>T" ], "proteinEffect": { "hgvs": "NP_004560.1:p.Met1Leu", "hgvsWellDefined": "NP_004560.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS029725" }, { "coordinates": [ { "allele": "T", "end": 89, "referenceAllele": "A", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "XM_006720172.2:c.-7A>T" ], "proteinEffect": { "hgvs": "XP_006720235.1:n.-7A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073529" }, { "coordinates": [ { "allele": "T", "end": 98, "referenceAllele": "A", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "XM_011536838.1:c.1A>T" ], "proteinEffect": { "hgvs": "XP_011535140.1:p.Met1Leu", "hgvsWellDefined": "XP_011535140.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS103810" }, { "coordinates": [ { "allele": "T", "end": 98, "referenceAllele": "A", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "XR_943477.1:n.98A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS137500" }, { "@id": "http://reg.genome.network/allele/PA2828103260", "coordinates": [ { "allele": "T", "end": 99, "referenceAllele": "A", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "NM_001363694.1:c.1A>T" ], "proteinEffect": { "hgvs": "NP_001350623.1:p.Met1Leu", "hgvsWellDefined": "NP_001350623.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS523488" }, { "@id": "http://reg.genome.network/allele/PA658828777", "coordinates": [ { "allele": "T", "end": 99, "referenceAllele": "A", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "NM_004569.4:c.1A>T" ], "proteinEffect": { "hgvs": "NP_004560.1:p.Met1Leu", "hgvsWellDefined": "NP_004560.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS525228" }, { "coordinates": [ { "allele": "T", "end": 96, "referenceAllele": "A", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "XM_011536838.3:c.1A>T" ], "proteinEffect": { "hgvs": "XP_011535140.1:p.Met1Leu", "hgvsWellDefined": "XP_011535140.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS552657" }, { "coordinates": [ { "allele": "A", "end": 1872, "endIntronDirection": "-", "endIntronOffset": 134991, "referenceAllele": "T", "start": 1872, "startIntronDirection": "-", "startIntronOffset": 134992 } ], "gene": "http://reg.genome.network/gene/GN015465", "geneNCBI_id": 10243, "geneSymbol": "GPHN", "hgvs": [ "XM_017020925.2:c.1313-134992T>A" ], "proteinEffect": { "hgvs": "XP_016876414.1:n.1313-134992T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS572274" }, { "coordinates": [ { "allele": "T", "end": 100, "referenceAllele": "A", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "XM_017021371.2:c.1A>T" ], "proteinEffect": { "hgvs": "XP_016876860.1:p.Met1Leu", "hgvsWellDefined": "XP_016876860.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS572591" }, { "@id": "http://reg.genome.network/allele/PA658828777", "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "A", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN008964", "geneNCBI_id": 5283, "geneSymbol": "PIGH", "hgvs": [ "NM_004569.5:c.1A>T" ], "proteinEffect": { "hgvs": "NP_004560.1:p.Met1Leu", "hgvsWellDefined": "NP_004560.1:p.Met1Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS666550", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216452.9:c.1A>T" }, "RefSeq": { "hgvs": "NM_004569.5:c.1A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216452.4:p.Met1Leu" }, "RefSeq": { "hgvs": "NP_004560.1:p.Met1Leu" } } } } ], "type": "nucleotide" }