Canonical Allele Identifier: CA400478850

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 920489
• ClinVar RCV Id: RCV001179247 ; RCV001222155
• dbSNP Id: rs45552539
• gnomAD v4: 17-61683664-C-G
• MyVariant Identifiers: chr17:g.59761025C>G (hg19) ; chr17:g.61683664C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683664C>G , CM000679.2:g.61683664C>G	GRCh38
NC_000017.10:g.59761025C>G , CM000679.1:g.59761025C>G	GRCh37
NC_000017.9:g.57115807C>G	NCBI36
NG_007409.2:g.184896G>C , LRG_300:g.184896G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2122G>C
ENST00000682453.1:c.3382G>C	ENSP00000506943.1:p.Glu1128Gln
ENST00000682477.1:c.*2808G>C	ENSP00000507075.1:n.*2808G>C
ENST00000682589.1:n.9259G>C
ENST00000682755.1:c.3160G>C	ENSP00000507660.1:p.Glu1054Gln
ENST00000682989.1:c.*473G>C	ENSP00000507786.1:n.*473G>C
ENST00000683039.1:c.3382G>C	ENSP00000508303.1:p.Glu1128Gln
ENST00000683235.1:c.*797G>C	ENSP00000507646.1:n.*797G>C
ENST00000683535.1:n.1512G>C
ENST00000684584.1:c.2545G>C	ENSP00000508044.1:p.Glu849Gln
ENST00000684626.1:n.1628G>C
ENST00000684769.1:c.1572G>C	ENSP00000507691.1:n.1572G>C
ENST00000259008.7:c.3382G>C MANE Select	ENSP00000259008.2:p.Glu1128Gln
ENST00000259008.6:c.3382G>C	ENSP00000259008.2:p.Glu1128Gln
NM_032043.2:c.3382G>C , LRG_300t1:c.3382G>C	NP_114432.2:p.Glu1128Gln
XM_011525332.1:c.3442G>C	XP_011523634.1:p.Glu1148Gln
XM_011525333.1:c.3442G>C	XP_011523635.1:p.Glu1148Gln
XM_011525334.1:c.3442G>C	XP_011523636.1:p.Glu1148Gln
XM_011525335.1:c.3382G>C	XP_011523637.1:p.Glu1128Gln
XM_011525336.1:c.3322G>C	XP_011523638.1:p.Glu1108Gln
XM_011525337.1:c.3241G>C	XP_011523639.1:p.Glu1081Gln
XM_011525338.1:c.2959G>C	XP_011523640.1:p.Glu987Gln
XM_011525332.3:c.3442G>C	XP_011523634.1:p.Glu1148Gln
XM_011525333.3:c.3442G>C	XP_011523635.1:p.Glu1148Gln
XM_011525334.2:c.3442G>C	XP_011523636.1:p.Glu1148Gln
XM_011525335.3:c.3382G>C	XP_011523637.1:p.Glu1128Gln
XM_011525336.2:c.3322G>C	XP_011523638.1:p.Glu1108Gln
XM_011525337.2:c.3241G>C	XP_011523639.1:p.Glu1081Gln
XM_011525338.2:c.2959G>C	XP_011523640.1:p.Glu987Gln
XM_017025200.1:c.2899G>C	XP_016880689.1:p.Glu967Gln
XM_017025201.1:c.2899G>C	XP_016880690.1:p.Glu967Gln
XM_017025202.1:c.1528G>C	XP_016880691.1:p.Glu510Gln
XM_017025203.1:c.1528G>C	XP_016880692.1:p.Glu510Gln
NM_032043.3:c.3382G>C MANE Select	NP_114432.2:p.Glu1128Gln