Canonical Allele Identifier: CA400479837

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61716057G>C , CM000679.2:g.61716057G>C	GRCh38
NC_000017.10:g.59793418G>C , CM000679.1:g.59793418G>C	GRCh37
NC_000017.9:g.57148200G>C	NCBI36
NG_007409.2:g.152503C>G , LRG_300:g.152503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2516C>G	ENSP00000507191.1:n.2516C>G
ENST00000682073.1:n.1126C>G
ENST00000682433.1:n.1465C>G
ENST00000682453.1:c.2386C>G	ENSP00000506943.1:p.Leu796Val
ENST00000682477.1:c.*1812C>G	ENSP00000507075.1:n.*1812C>G
ENST00000682589.1:n.8263C>G
ENST00000682755.1:c.2164C>G	ENSP00000507660.1:p.Leu722Val
ENST00000682989.1:c.2386C>G	ENSP00000507786.1:p.Leu796Val
ENST00000683039.1:c.2386C>G	ENSP00000508303.1:p.Leu796Val
ENST00000683235.1:c.2386C>G	ENSP00000507646.1:p.Leu796Val
ENST00000683535.1:n.516C>G
ENST00000684471.1:n.799C>G
ENST00000684584.1:c.1879C>G	ENSP00000508044.1:p.Leu627Val
ENST00000684626.1:n.715C>G
ENST00000684769.1:c.451C>G	ENSP00000507691.1:p.Leu151Val
ENST00000259008.7:c.2386C>G MANE Select	ENSP00000259008.2:p.Leu796Val
ENST00000259008.6:c.2386C>G	ENSP00000259008.2:p.Leu796Val
ENST00000577598.5:c.2386C>G	ENSP00000464654.1:p.Leu796Val
NM_032043.2:c.2386C>G , LRG_300t1:c.2386C>G	NP_114432.2:p.Leu796Val
XM_011525332.1:c.2446C>G	XP_011523634.1:p.Leu816Val
XM_011525333.1:c.2446C>G	XP_011523635.1:p.Leu816Val
XM_011525334.1:c.2446C>G	XP_011523636.1:p.Leu816Val
XM_011525335.1:c.2386C>G	XP_011523637.1:p.Leu796Val
XM_011525336.1:c.2326C>G	XP_011523638.1:p.Leu776Val
XM_011525337.1:c.2245C>G	XP_011523639.1:p.Leu749Val
XM_011525338.1:c.1963C>G	XP_011523640.1:p.Leu655Val
XM_011525339.1:c.*27C>G	XP_011523641.1:n.*27C>G
XM_011525340.1:c.2446C>G	XP_011523642.1:p.Leu816Val
XM_011525332.3:c.2446C>G	XP_011523634.1:p.Leu816Val
XM_011525333.3:c.2446C>G	XP_011523635.1:p.Leu816Val
XM_011525334.2:c.2446C>G	XP_011523636.1:p.Leu816Val
XM_011525335.3:c.2386C>G	XP_011523637.1:p.Leu796Val
XM_011525336.2:c.2326C>G	XP_011523638.1:p.Leu776Val
XM_011525337.2:c.2245C>G	XP_011523639.1:p.Leu749Val
XM_011525338.2:c.1963C>G	XP_011523640.1:p.Leu655Val
XM_011525339.3:c.*27C>G	XP_011523641.1:n.*27C>G
XM_011525340.3:c.2446C>G	XP_011523642.1:p.Leu816Val
XM_017025200.1:c.1903C>G	XP_016880689.1:p.Leu635Val
XM_017025201.1:c.1903C>G	XP_016880690.1:p.Leu635Val
XM_017025202.1:c.532C>G	XP_016880691.1:p.Leu178Val
XM_017025203.1:c.532C>G	XP_016880692.1:p.Leu178Val
NM_032043.3:c.2386C>G MANE Select	NP_114432.2:p.Leu796Val