Canonical Allele Identifier: CA2269130868

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683595C= , CM000679.2:g.61683595C=	GRCh38
NC_000017.10:g.59760956C= , CM000679.1:g.59760956C=	GRCh37
NC_000017.9:g.57115738C=	NCBI36
NG_007409.2:g.184965G= , LRG_300:g.184965G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2191G=
ENST00000682453.1:c.3451G=	ENSP00000506943.1:p.Glu1151=
ENST00000682477.1:c.*2877G=	ENSP00000507075.1:n.*2877G=
ENST00000682589.1:n.9328G=
ENST00000682755.1:c.3229G=	ENSP00000507660.1:p.Glu1077=
ENST00000682989.1:c.*542G=	ENSP00000507786.1:n.*542G=
ENST00000683039.1:c.3451G=	ENSP00000508303.1:p.Glu1151=
ENST00000683235.1:c.*866G=	ENSP00000507646.1:n.*866G=
ENST00000683535.1:n.1581G=
ENST00000684584.1:c.2614G=	ENSP00000508044.1:p.Glu872=
ENST00000684626.1:n.1697G=
ENST00000684769.1:c.1641G=	ENSP00000507691.1:n.1641G=
ENST00000259008.7:c.3451G= MANE Select	ENSP00000259008.2:p.Glu1151=
ENST00000259008.6:c.3451G=	ENSP00000259008.2:p.Glu1151=
NM_032043.2:c.3451G= , LRG_300t1:c.3451G=	NP_114432.2:p.Glu1151=
XM_011525332.1:c.3511G=	XP_011523634.1:p.Glu1171=
XM_011525333.1:c.3511G=	XP_011523635.1:p.Glu1171=
XM_011525334.1:c.3511G=	XP_011523636.1:p.Glu1171=
XM_011525335.1:c.3451G=	XP_011523637.1:p.Glu1151=
XM_011525336.1:c.3391G=	XP_011523638.1:p.Glu1131=
XM_011525337.1:c.3310G=	XP_011523639.1:p.Glu1104=
XM_011525338.1:c.3028G=	XP_011523640.1:p.Glu1010=
XM_011525332.3:c.3511G=	XP_011523634.1:p.Glu1171=
XM_011525333.3:c.3511G=	XP_011523635.1:p.Glu1171=
XM_011525334.2:c.3511G=	XP_011523636.1:p.Glu1171=
XM_011525335.3:c.3451G=	XP_011523637.1:p.Glu1151=
XM_011525336.2:c.3391G=	XP_011523638.1:p.Glu1131=
XM_011525337.2:c.3310G=	XP_011523639.1:p.Glu1104=
XM_011525338.2:c.3028G=	XP_011523640.1:p.Glu1010=
XM_017025200.1:c.2968G=	XP_016880689.1:p.Glu990=
XM_017025201.1:c.2968G=	XP_016880690.1:p.Glu990=
XM_017025202.1:c.1597G=	XP_016880691.1:p.Glu533=
XM_017025203.1:c.1597G=	XP_016880692.1:p.Glu533=
NM_032043.3:c.3451G= MANE Select	NP_114432.2:p.Glu1151=