Canonical Allele Identifier: CA8690366

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1731099
• ClinVar RCV Id: RCV002452108
• dbSNP Id: rs369340444
• ExAC: 17:59761004 C / T
• gnomAD v2: 17-59761004-C-T
• MyVariant Identifiers: chr17:g.59761004C>T (hg19) ; chr17:g.61683643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683643C>T , CM000679.2:g.61683643C>T	GRCh38
NC_000017.10:g.59761004C>T , CM000679.1:g.59761004C>T	GRCh37
NC_000017.9:g.57115786C>T	NCBI36
NG_007409.2:g.184917G>A , LRG_300:g.184917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2143G>A
ENST00000682453.1:c.3403G>A	ENSP00000506943.1:p.Glu1135Lys
ENST00000682477.1:c.*2829G>A	ENSP00000507075.1:n.*2829G>A
ENST00000682589.1:n.9280G>A
ENST00000682755.1:c.3181G>A	ENSP00000507660.1:p.Glu1061Lys
ENST00000682989.1:c.*494G>A	ENSP00000507786.1:n.*494G>A
ENST00000683039.1:c.3403G>A	ENSP00000508303.1:p.Glu1135Lys
ENST00000683235.1:c.*818G>A	ENSP00000507646.1:n.*818G>A
ENST00000683535.1:n.1533G>A
ENST00000684584.1:c.2566G>A	ENSP00000508044.1:p.Glu856Lys
ENST00000684626.1:n.1649G>A
ENST00000684769.1:c.1593G>A	ENSP00000507691.1:n.1593G>A
ENST00000259008.7:c.3403G>A MANE Select	ENSP00000259008.2:p.Glu1135Lys
ENST00000259008.6:c.3403G>A	ENSP00000259008.2:p.Glu1135Lys
NM_032043.2:c.3403G>A , LRG_300t1:c.3403G>A	NP_114432.2:p.Glu1135Lys
XM_011525332.1:c.3463G>A	XP_011523634.1:p.Glu1155Lys
XM_011525333.1:c.3463G>A	XP_011523635.1:p.Glu1155Lys
XM_011525334.1:c.3463G>A	XP_011523636.1:p.Glu1155Lys
XM_011525335.1:c.3403G>A	XP_011523637.1:p.Glu1135Lys
XM_011525336.1:c.3343G>A	XP_011523638.1:p.Glu1115Lys
XM_011525337.1:c.3262G>A	XP_011523639.1:p.Glu1088Lys
XM_011525338.1:c.2980G>A	XP_011523640.1:p.Glu994Lys
XM_011525332.3:c.3463G>A	XP_011523634.1:p.Glu1155Lys
XM_011525333.3:c.3463G>A	XP_011523635.1:p.Glu1155Lys
XM_011525334.2:c.3463G>A	XP_011523636.1:p.Glu1155Lys
XM_011525335.3:c.3403G>A	XP_011523637.1:p.Glu1135Lys
XM_011525336.2:c.3343G>A	XP_011523638.1:p.Glu1115Lys
XM_011525337.2:c.3262G>A	XP_011523639.1:p.Glu1088Lys
XM_011525338.2:c.2980G>A	XP_011523640.1:p.Glu994Lys
XM_017025200.1:c.2920G>A	XP_016880689.1:p.Glu974Lys
XM_017025201.1:c.2920G>A	XP_016880690.1:p.Glu974Lys
XM_017025202.1:c.1549G>A	XP_016880691.1:p.Glu517Lys
XM_017025203.1:c.1549G>A	XP_016880692.1:p.Glu517Lys
NM_032043.3:c.3403G>A MANE Select	NP_114432.2:p.Glu1135Lys