Canonical Allele Identifier: CA209276

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 210533
• ClinVar RCV Id: RCV000194841 ; RCV000330408
• dbSNP Id: rs60657820
• gnomAD v2: 17-59758567-C-G
• gnomAD v3: 17-61681206-C-G
• gnomAD v4: 17-61681206-C-G
• MyVariant Identifiers: chr17:g.59758567C>G (hg19) ; chr17:g.61681206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61681206C>G , CM000679.2:g.61681206C>G	GRCh38
NC_000017.10:g.59758567C>G , CM000679.1:g.59758567C>G	GRCh37
NC_000017.9:g.57113349C>G	NCBI36
NG_007409.2:g.187354G>C , LRG_300:g.187354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682755.1:c.*2090G>C	ENSP00000507660.1:n.*2090G>C
ENST00000259008.7:c.*2090G>C MANE Select	ENSP00000259008.2:n.*2090G>C
NM_032043.2:c.*2090G>C , LRG_300t1:c.*2090G>C	NP_114432.2:n.*2090G>C
NM_032043.3:c.*2090G>C MANE Select	NP_114432.2:n.*2090G>C