Canonical Allele Identifier: CA10649726
Gene: BRIP1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.61679808T>A
GRCh37 chr17:g.59757169T>A
gnomAD v2:
17:59757169 T / A
gnomAD v3:
17:61679808 T / A
gnomAD v4:
chr17-61679808-T-A
Joint Max Group AF 0.47501683 (EAS)
Genomes Max Group AF 0.47501683 (EAS)
ClinVar RCV:
RCV000379026
ClinVar Variation:
324294
dbSNP:
11079454
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61679808T>A , CM000679.2:g.61679808T>A GRCh38
NC_000017.10:g.59757169T>A , CM000679.1:g.59757169T>A GRCh37
NC_000017.9:g.57111951T>A NCBI36
NG_007409.2:g.188752A>T , LRG_300:g.188752A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682755.1:c.*3488A>T ENSP00000507660.1:n.*3488A>T
ENST00000259008.7:c.*3488A>T MANE Select ENSP00000259008.2:n.*3488A>T
NM_032043.2:c.*3488A>T , LRG_300t1:c.*3488A>T NP_114432.2:n.*3488A>T
NM_032043.3:c.*3488A>T MANE Select NP_114432.2:n.*3488A>T
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