{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4435651", "communityStandardTitle": [ "NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016836[alleleid]", "alleleId": 1016836, "preferredName": "NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029433", "RCV": [ "RCV001330709" ], "variationId": 1029433 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-107600192-C-T", "id": "7-107600192-C-T", "variant": "7:107600192 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107600192C>T?assembly=hg19", "id": "chr7:g.107600192C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.107959747C>T?assembly=hg38", "id": "chr7:g.107959747C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/755654690", "rs": 755654690 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-107600192-C-T?dataset=gnomad_r2_1", "id": "7-107600192-C-T", "variant": "7:107600192 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-107959747-C-T?dataset=gnomad_r3", "id": "7-107959747-C-T", "variant": "7:107959747 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-107959747-C-T?dataset=gnomad_r4", "id": "7-107959747-C-T", "variant": "7:107959747 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 107959747, "referenceAllele": "C", "start": 107959746 } ], "hgvs": [ "NC_000007.14:g.107959747C>T", "CM000669.2:g.107959747C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 107600192, "referenceAllele": "C", "start": 107600191 } ], "hgvs": [ "NC_000007.13:g.107600192C>T", "CM000669.1:g.107600192C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 107387428, "referenceAllele": "C", "start": 107387427 } ], "hgvs": [ "NC_000007.12:g.107387428C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 48613, "referenceAllele": "G", "start": 48612 } ], "hgvs": [ "NG_023255.1:g.48613G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003747" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2539, "referenceAllele": "G", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.11:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Arg801Lys", "hgvsWellDefined": "ENSP00000222399.6:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS740572", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.2402G>A" }, "RefSeq": { "hgvs": "NM_002291.3:c.2402G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Arg801Lys" }, "RefSeq": { "hgvs": "NP_002282.2:p.Arg801Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 2507, "referenceAllele": "G", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.6:c.1991G>A" ], "proteinEffect": { "hgvs": "ENSP00000377191.2:p.Arg664Lys", "hgvsWellDefined": "ENSP00000377191.2:p.Arg664Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753137" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676574.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000503081.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000503081.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776252" }, { "coordinates": [ { "allele": "A", "end": 2539, "referenceAllele": "G", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676777.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000504756.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000504756.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776449" }, { "coordinates": [ { "allele": "A", "end": 2507, "referenceAllele": "G", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000676920.1:c.1991G>A" ], "proteinEffect": { "hgvs": "ENSP00000503814.1:p.Arg664Lys", "hgvsWellDefined": "ENSP00000503814.1:p.Arg664Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776591" }, { "coordinates": [ { "allele": "A", "end": 2445, "referenceAllele": "G", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677101.1:c.*2038G>A" ], "proteinEffect": { "hgvs": "ENSP00000503156.1:n.*2038G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776767" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677144.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000503049.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000503049.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776809" }, { "coordinates": [ { "allele": "A", "end": 3626, "referenceAllele": "G", "start": 3625 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677485.1:n.3626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777147" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677588.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000502938.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000502938.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS777247" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677652.1:n.2591G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777310" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677734.1:n.2591G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777389" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677793.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000504020.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000504020.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS777445" }, { "coordinates": [ { "allele": "A", "end": 2559, "referenceAllele": "G", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677801.1:c.1991G>A" ], "proteinEffect": { "hgvs": "ENSP00000503438.1:p.Arg664Lys", "hgvsWellDefined": "ENSP00000503438.1:p.Arg664Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS777453" }, { "coordinates": [ { "allele": "A", "end": 2568, "referenceAllele": "G", "start": 2567 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000677994.1:n.2568G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777644" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678232.1:n.2591G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777880" }, { "coordinates": [ { "allele": "A", "end": 2544, "referenceAllele": "G", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678266.1:n.2544G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777914" }, { "coordinates": [ { "allele": "A", "end": 2572, "referenceAllele": "G", "start": 2571 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678346.1:c.*2038G>A" ], "proteinEffect": { "hgvs": "ENSP00000504349.1:n.*2038G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777993" }, { "coordinates": [ { "allele": "A", "end": 2559, "referenceAllele": "G", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678698.1:c.1991G>A" ], "proteinEffect": { "hgvs": "ENSP00000503198.1:p.Arg664Lys", "hgvsWellDefined": "ENSP00000503198.1:p.Arg664Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS778337" }, { "coordinates": [ { "allele": "A", "end": 2595, "referenceAllele": "G", "start": 2594 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678704.1:c.*984G>A" ], "proteinEffect": { "hgvs": "ENSP00000504589.1:n.*984G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778343" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000678892.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000504841.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000504841.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS778529" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679173.1:n.2591G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778808" }, { "coordinates": [ { "allele": "A", "end": 2507, "referenceAllele": "G", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679200.1:c.1991G>A" ], "proteinEffect": { "hgvs": "ENSP00000503498.1:p.Arg664Lys", "hgvsWellDefined": "ENSP00000503498.1:p.Arg664Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS778834" }, { "coordinates": [ { "allele": "A", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000679244.1:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000504656.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000504656.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS778878" }, { "coordinates": [ { "allele": "A", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000222399.10:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000222399.6:p.Arg801Lys", "hgvsWellDefined": "ENSP00000222399.6:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS248377" }, { "coordinates": [ { "allele": "A", "end": 2565, "referenceAllele": "G", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393560.5:c.2402G>A" ], "proteinEffect": { "hgvs": "ENSP00000377190.1:p.Arg801Lys", "hgvsWellDefined": "ENSP00000377190.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275690" }, { "coordinates": [ { "allele": "A", "end": 2659, "referenceAllele": "G", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "ENST00000393561.5:c.2474G>A" ], "proteinEffect": { "hgvs": "ENSP00000377191.1:p.Arg825Lys", "hgvsWellDefined": "ENSP00000377191.1:p.Arg825Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275691" }, { "@id": "http://reg.genome.network/allele/PA2499260835", "coordinates": [ { "allele": "A", "end": 2737, "referenceAllele": "G", "start": 2736 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.2:c.2402G>A" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Arg801Lys", "hgvsWellDefined": "NP_002282.2:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS027611" }, { "coordinates": [ { "allele": "A", "end": 2557, "referenceAllele": "G", "start": 2556 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_011516203.1:c.2402G>A" ], "proteinEffect": { "hgvs": "XP_011514505.1:p.Arg801Lys", "hgvsWellDefined": "XP_011514505.1:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS083406" }, { "coordinates": [ { "allele": "A", "end": 3205, "referenceAllele": "G", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012201.1:c.2474G>A" ], "proteinEffect": { "hgvs": "XP_016867690.1:p.Arg825Lys", "hgvsWellDefined": "XP_016867690.1:p.Arg825Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS565855" }, { "coordinates": [ { "allele": "A", "end": 3205, "referenceAllele": "G", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XM_017012202.1:c.2474G>A" ], "proteinEffect": { "hgvs": "XP_016867691.1:p.Arg825Lys", "hgvsWellDefined": "XP_016867691.1:p.Arg825Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS565856" }, { "coordinates": [ { "allele": "A", "end": 3205, "referenceAllele": "G", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "XR_001744756.1:n.3205G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593442" }, { "@id": "http://reg.genome.network/allele/PA2499260835", "coordinates": [ { "allele": "A", "end": 2539, "referenceAllele": "G", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN006486", "geneNCBI_id": 3912, "geneSymbol": "LAMB1", "hgvs": [ "NM_002291.3:c.2402G>A" ], "proteinEffect": { "hgvs": "NP_002282.2:p.Arg801Lys", "hgvsWellDefined": "NP_002282.2:p.Arg801Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS665454", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222399.11:c.2402G>A" }, "RefSeq": { "hgvs": "NM_002291.3:c.2402G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222399.6:p.Arg801Lys" }, "RefSeq": { "hgvs": "NP_002282.2:p.Arg801Lys" } } } } ], "type": "nucleotide" }