Canonical Allele Identifier: CA2269130922

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683675T= , CM000679.2:g.61683675T=	GRCh38
NC_000017.10:g.59761036T= , CM000679.1:g.59761036T=	GRCh37
NC_000017.9:g.57115818T=	NCBI36
NG_007409.2:g.184885A= , LRG_300:g.184885A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2111A=
ENST00000682453.1:c.3371A=	ENSP00000506943.1:p.Glu1124=
ENST00000682477.1:c.*2797A=	ENSP00000507075.1:n.*2797A=
ENST00000682589.1:n.9248A=
ENST00000682755.1:c.3149A=	ENSP00000507660.1:p.Glu1050=
ENST00000682989.1:c.*462A=	ENSP00000507786.1:n.*462A=
ENST00000683039.1:c.3371A=	ENSP00000508303.1:p.Glu1124=
ENST00000683235.1:c.*786A=	ENSP00000507646.1:n.*786A=
ENST00000683535.1:n.1501A=
ENST00000684584.1:c.2534A=	ENSP00000508044.1:p.Glu845=
ENST00000684626.1:n.1617A=
ENST00000684769.1:c.1561A=	ENSP00000507691.1:n.1561A=
ENST00000259008.7:c.3371A= MANE Select	ENSP00000259008.2:p.Glu1124=
ENST00000259008.6:c.3371A=	ENSP00000259008.2:p.Glu1124=
NM_032043.2:c.3371A= , LRG_300t1:c.3371A=	NP_114432.2:p.Glu1124=
XM_011525332.1:c.3431A=	XP_011523634.1:p.Glu1144=
XM_011525333.1:c.3431A=	XP_011523635.1:p.Glu1144=
XM_011525334.1:c.3431A=	XP_011523636.1:p.Glu1144=
XM_011525335.1:c.3371A=	XP_011523637.1:p.Glu1124=
XM_011525336.1:c.3311A=	XP_011523638.1:p.Glu1104=
XM_011525337.1:c.3230A=	XP_011523639.1:p.Glu1077=
XM_011525338.1:c.2948A=	XP_011523640.1:p.Glu983=
XM_011525332.3:c.3431A=	XP_011523634.1:p.Glu1144=
XM_011525333.3:c.3431A=	XP_011523635.1:p.Glu1144=
XM_011525334.2:c.3431A=	XP_011523636.1:p.Glu1144=
XM_011525335.3:c.3371A=	XP_011523637.1:p.Glu1124=
XM_011525336.2:c.3311A=	XP_011523638.1:p.Glu1104=
XM_011525337.2:c.3230A=	XP_011523639.1:p.Glu1077=
XM_011525338.2:c.2948A=	XP_011523640.1:p.Glu983=
XM_017025200.1:c.2888A=	XP_016880689.1:p.Glu963=
XM_017025201.1:c.2888A=	XP_016880690.1:p.Glu963=
XM_017025202.1:c.1517A=	XP_016880691.1:p.Glu506=
XM_017025203.1:c.1517A=	XP_016880692.1:p.Glu506=
NM_032043.3:c.3371A= MANE Select	NP_114432.2:p.Glu1124=