Canonical Allele Identifier: CA2269130941

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683714T= , CM000679.2:g.61683714T=	GRCh38
NC_000017.10:g.59761075T= , CM000679.1:g.59761075T=	GRCh37
NC_000017.9:g.57115857T=	NCBI36
NG_007409.2:g.184846A= , LRG_300:g.184846A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2072A=
ENST00000682453.1:c.3332A=	ENSP00000506943.1:p.Glu1111=
ENST00000682477.1:c.*2758A=	ENSP00000507075.1:n.*2758A=
ENST00000682589.1:n.9209A=
ENST00000682755.1:c.3110A=	ENSP00000507660.1:p.Glu1037=
ENST00000682989.1:c.*423A=	ENSP00000507786.1:n.*423A=
ENST00000683039.1:c.3332A=	ENSP00000508303.1:p.Glu1111=
ENST00000683235.1:c.*747A=	ENSP00000507646.1:n.*747A=
ENST00000683535.1:n.1462A=
ENST00000684584.1:c.2495A=	ENSP00000508044.1:p.Glu832=
ENST00000684626.1:n.1578A=
ENST00000684769.1:c.1522A=	ENSP00000507691.1:n.1522A=
ENST00000259008.7:c.3332A= MANE Select	ENSP00000259008.2:p.Glu1111=
ENST00000259008.6:c.3332A=	ENSP00000259008.2:p.Glu1111=
NM_032043.2:c.3332A= , LRG_300t1:c.3332A=	NP_114432.2:p.Glu1111=
XM_011525332.1:c.3392A=	XP_011523634.1:p.Glu1131=
XM_011525333.1:c.3392A=	XP_011523635.1:p.Glu1131=
XM_011525334.1:c.3392A=	XP_011523636.1:p.Glu1131=
XM_011525335.1:c.3332A=	XP_011523637.1:p.Glu1111=
XM_011525336.1:c.3272A=	XP_011523638.1:p.Glu1091=
XM_011525337.1:c.3191A=	XP_011523639.1:p.Glu1064=
XM_011525338.1:c.2909A=	XP_011523640.1:p.Glu970=
XM_011525332.3:c.3392A=	XP_011523634.1:p.Glu1131=
XM_011525333.3:c.3392A=	XP_011523635.1:p.Glu1131=
XM_011525334.2:c.3392A=	XP_011523636.1:p.Glu1131=
XM_011525335.3:c.3332A=	XP_011523637.1:p.Glu1111=
XM_011525336.2:c.3272A=	XP_011523638.1:p.Glu1091=
XM_011525337.2:c.3191A=	XP_011523639.1:p.Glu1064=
XM_011525338.2:c.2909A=	XP_011523640.1:p.Glu970=
XM_017025200.1:c.2849A=	XP_016880689.1:p.Glu950=
XM_017025201.1:c.2849A=	XP_016880690.1:p.Glu950=
XM_017025202.1:c.1478A=	XP_016880691.1:p.Glu493=
XM_017025203.1:c.1478A=	XP_016880692.1:p.Glu493=
NM_032043.3:c.3332A= MANE Select	NP_114432.2:p.Glu1111=