Canonical Allele Identifier: CA193631

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686147C>T , CM000679.2:g.61686147C>T	GRCh38
NC_000017.10:g.59763508C>T , CM000679.1:g.59763508C>T	GRCh37
NC_000017.9:g.57118290C>T	NCBI36
NG_007409.2:g.182413G>A , LRG_300:g.182413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2724G>A	ENSP00000507191.1:n.2724G>A
ENST00000682073.1:n.1334G>A
ENST00000682433.1:n.1673G>A
ENST00000682453.1:c.2594G>A	ENSP00000506943.1:p.Arg865Gln
ENST00000682477.1:c.*2020G>A	ENSP00000507075.1:n.*2020G>A
ENST00000682589.1:n.8471G>A
ENST00000682755.1:c.2372G>A	ENSP00000507660.1:p.Arg791Gln
ENST00000682989.1:c.2610-2007G>A	ENSP00000507786.1:n.2610-2007G>A
ENST00000683039.1:c.2594G>A	ENSP00000508303.1:p.Arg865Gln
ENST00000683235.1:c.*9G>A	ENSP00000507646.1:n.*9G>A
ENST00000683535.1:n.724G>A
ENST00000684471.1:n.1007G>A
ENST00000684584.1:c.2069-2007G>A	ENSP00000508044.1:n.2069-2007G>A
ENST00000684626.1:n.840G>A
ENST00000684769.1:c.784G>A	ENSP00000507691.1:n.784G>A
ENST00000259008.7:c.2594G>A MANE Select	ENSP00000259008.2:p.Arg865Gln
ENST00000259008.6:c.2594G>A	ENSP00000259008.2:p.Arg865Gln
ENST00000577598.5:c.2594G>A	ENSP00000464654.1:p.Arg865Gln
NM_032043.2:c.2594G>A , LRG_300t1:c.2594G>A	NP_114432.2:p.Arg865Gln
XM_011525332.1:c.2654G>A	XP_011523634.1:p.Arg885Gln
XM_011525333.1:c.2654G>A	XP_011523635.1:p.Arg885Gln
XM_011525334.1:c.2654G>A	XP_011523636.1:p.Arg885Gln
XM_011525335.1:c.2594G>A	XP_011523637.1:p.Arg865Gln
XM_011525336.1:c.2534G>A	XP_011523638.1:p.Arg845Gln
XM_011525337.1:c.2453G>A	XP_011523639.1:p.Arg818Gln
XM_011525338.1:c.2171G>A	XP_011523640.1:p.Arg724Gln
XM_011525340.1:c.*9G>A	XP_011523642.1:n.*9G>A
XM_011525332.3:c.2654G>A	XP_011523634.1:p.Arg885Gln
XM_011525333.3:c.2654G>A	XP_011523635.1:p.Arg885Gln
XM_011525334.2:c.2654G>A	XP_011523636.1:p.Arg885Gln
XM_011525335.3:c.2594G>A	XP_011523637.1:p.Arg865Gln
XM_011525336.2:c.2534G>A	XP_011523638.1:p.Arg845Gln
XM_011525337.2:c.2453G>A	XP_011523639.1:p.Arg818Gln
XM_011525338.2:c.2171G>A	XP_011523640.1:p.Arg724Gln
XM_011525340.3:c.*9G>A	XP_011523642.1:n.*9G>A
XM_017025200.1:c.2111G>A	XP_016880689.1:p.Arg704Gln
XM_017025201.1:c.2111G>A	XP_016880690.1:p.Arg704Gln
XM_017025202.1:c.740G>A	XP_016880691.1:p.Arg247Gln
XM_017025203.1:c.740G>A	XP_016880692.1:p.Arg247Gln
NM_032043.3:c.2594G>A MANE Select	NP_114432.2:p.Arg865Gln