Canonical Allele Identifier: CA2269130915

Gene: BRIP1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2122G=
ENST00000682453.1:c.3382G=	ENSP00000506943.1:p.Glu1128=
ENST00000682477.1:c.*2808G=	ENSP00000507075.1:n.*2808G=
ENST00000682589.1:n.9259G=
ENST00000682755.1:c.3160G=	ENSP00000507660.1:p.Glu1054=
ENST00000682989.1:c.*473G=	ENSP00000507786.1:n.*473G=
ENST00000683039.1:c.3382G=	ENSP00000508303.1:p.Glu1128=
ENST00000683235.1:c.*797G=	ENSP00000507646.1:n.*797G=
ENST00000683535.1:n.1512G=
ENST00000684584.1:c.2545G=	ENSP00000508044.1:p.Glu849=
ENST00000684626.1:n.1628G=
ENST00000684769.1:c.1572G=	ENSP00000507691.1:n.1572G=
ENST00000259008.7:c.3382G= MANE Select	ENSP00000259008.2:p.Glu1128=
ENST00000259008.6:c.3382G=	ENSP00000259008.2:p.Glu1128=
NM_032043.2:c.3382G= , LRG_300t1:c.3382G=	NP_114432.2:p.Glu1128=
XM_011525332.1:c.3442G=	XP_011523634.1:p.Glu1148=
XM_011525333.1:c.3442G=	XP_011523635.1:p.Glu1148=
XM_011525334.1:c.3442G=	XP_011523636.1:p.Glu1148=
XM_011525335.1:c.3382G=	XP_011523637.1:p.Glu1128=
XM_011525336.1:c.3322G=	XP_011523638.1:p.Glu1108=
XM_011525337.1:c.3241G=	XP_011523639.1:p.Glu1081=
XM_011525338.1:c.2959G=	XP_011523640.1:p.Glu987=
XM_011525332.3:c.3442G=	XP_011523634.1:p.Glu1148=
XM_011525333.3:c.3442G=	XP_011523635.1:p.Glu1148=
XM_011525334.2:c.3442G=	XP_011523636.1:p.Glu1148=
XM_011525335.3:c.3382G=	XP_011523637.1:p.Glu1128=
XM_011525336.2:c.3322G=	XP_011523638.1:p.Glu1108=
XM_011525337.2:c.3241G=	XP_011523639.1:p.Glu1081=
XM_011525338.2:c.2959G=	XP_011523640.1:p.Glu987=
XM_017025200.1:c.2899G=	XP_016880689.1:p.Glu967=
XM_017025201.1:c.2899G=	XP_016880690.1:p.Glu967=
XM_017025202.1:c.1528G=	XP_016880691.1:p.Glu510=
XM_017025203.1:c.1528G=	XP_016880692.1:p.Glu510=
NM_032043.3:c.3382G= MANE Select	NP_114432.2:p.Glu1128=