Canonical Allele Identifier: CA2269130881

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683615T= , CM000679.2:g.61683615T=	GRCh38
NC_000017.10:g.59760976T= , CM000679.1:g.59760976T=	GRCh37
NC_000017.9:g.57115758T=	NCBI36
NG_007409.2:g.184945A= , LRG_300:g.184945A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2171A=
ENST00000682453.1:c.3431A=	ENSP00000506943.1:p.Glu1144=
ENST00000682477.1:c.*2857A=	ENSP00000507075.1:n.*2857A=
ENST00000682589.1:n.9308A=
ENST00000682755.1:c.3209A=	ENSP00000507660.1:p.Glu1070=
ENST00000682989.1:c.*522A=	ENSP00000507786.1:n.*522A=
ENST00000683039.1:c.3431A=	ENSP00000508303.1:p.Glu1144=
ENST00000683235.1:c.*846A=	ENSP00000507646.1:n.*846A=
ENST00000683535.1:n.1561A=
ENST00000684584.1:c.2594A=	ENSP00000508044.1:p.Glu865=
ENST00000684626.1:n.1677A=
ENST00000684769.1:c.1621A=	ENSP00000507691.1:n.1621A=
ENST00000259008.7:c.3431A= MANE Select	ENSP00000259008.2:p.Glu1144=
ENST00000259008.6:c.3431A=	ENSP00000259008.2:p.Glu1144=
NM_032043.2:c.3431A= , LRG_300t1:c.3431A=	NP_114432.2:p.Glu1144=
XM_011525332.1:c.3491A=	XP_011523634.1:p.Glu1164=
XM_011525333.1:c.3491A=	XP_011523635.1:p.Glu1164=
XM_011525334.1:c.3491A=	XP_011523636.1:p.Glu1164=
XM_011525335.1:c.3431A=	XP_011523637.1:p.Glu1144=
XM_011525336.1:c.3371A=	XP_011523638.1:p.Glu1124=
XM_011525337.1:c.3290A=	XP_011523639.1:p.Glu1097=
XM_011525338.1:c.3008A=	XP_011523640.1:p.Glu1003=
XM_011525332.3:c.3491A=	XP_011523634.1:p.Glu1164=
XM_011525333.3:c.3491A=	XP_011523635.1:p.Glu1164=
XM_011525334.2:c.3491A=	XP_011523636.1:p.Glu1164=
XM_011525335.3:c.3431A=	XP_011523637.1:p.Glu1144=
XM_011525336.2:c.3371A=	XP_011523638.1:p.Glu1124=
XM_011525337.2:c.3290A=	XP_011523639.1:p.Glu1097=
XM_011525338.2:c.3008A=	XP_011523640.1:p.Glu1003=
XM_017025200.1:c.2948A=	XP_016880689.1:p.Glu983=
XM_017025201.1:c.2948A=	XP_016880690.1:p.Glu983=
XM_017025202.1:c.1577A=	XP_016880691.1:p.Glu526=
XM_017025203.1:c.1577A=	XP_016880692.1:p.Glu526=
NM_032043.3:c.3431A= MANE Select	NP_114432.2:p.Glu1144=