Canonical Allele Identifier: CA2269155790

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744578A= , CM000679.2:g.61744578A=	GRCh38
NC_000017.10:g.59821939A= , CM000679.1:g.59821939A=	GRCh37
NC_000017.9:g.57176721A=	NCBI36
NG_007409.2:g.123982T= , LRG_300:g.123982T=

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2111T= MANE Select	NP_114432.2:p.Leu704=
ENST00000259008.7:c.2111T= MANE Select	ENSP00000259008.2:p.Leu704=
NM_032043.2:c.2111T= , LRG_300t1:c.2111T=	NP_114432.2:p.Leu704=
ENST00000259008.6:c.2111T=	ENSP00000259008.2:p.Leu704=
ENST00000577598.5:c.2111T=	ENSP00000464654.1:p.Leu704=
ENST00000579028.2:c.1693T=	ENSP00000463827.2:n.1693T=
ENST00000584322.1:c.94T=
ENST00000584322.2:c.2111T=	ENSP00000463272.2:p.Leu704=
ENST00000682066.1:c.2241T=	ENSP00000507191.1:n.2241T=
ENST00000682073.1:n.851T=
ENST00000682433.1:n.1190T=
ENST00000682453.1:c.2111T=	ENSP00000506943.1:p.Leu704=
ENST00000682477.1:c.*1537T=	ENSP00000507075.1:n.*1537T=
ENST00000682589.1:n.7988T=
ENST00000682755.1:c.1889T=	ENSP00000507660.1:p.Leu630=
ENST00000682989.1:c.2111T=	ENSP00000507786.1:p.Leu704=
ENST00000683039.1:c.2111T=	ENSP00000508303.1:p.Leu704=
ENST00000683235.1:c.2111T=	ENSP00000507646.1:p.Leu704=
ENST00000683381.1:c.2171T=	ENSP00000508184.1:p.Leu724=
ENST00000683535.1:n.241T=
ENST00000684471.1:n.524T=
ENST00000684584.1:c.1604T=	ENSP00000508044.1:p.Leu535=
ENST00000684769.1:c.176T=	ENSP00000507691.1:p.Leu59=
XM_011525332.1:c.2171T=	XP_011523634.1:p.Leu724=
XM_011525332.3:c.2171T=	XP_011523634.1:p.Leu724=
XM_011525333.1:c.2171T=	XP_011523635.1:p.Leu724=
XM_011525333.3:c.2171T=	XP_011523635.1:p.Leu724=
XM_011525334.1:c.2171T=	XP_011523636.1:p.Leu724=
XM_011525334.2:c.2171T=	XP_011523636.1:p.Leu724=
XM_011525335.1:c.2111T=	XP_011523637.1:p.Leu704=
XM_011525335.3:c.2111T=	XP_011523637.1:p.Leu704=
XM_011525336.1:c.2051T=	XP_011523638.1:p.Leu684=
XM_011525336.2:c.2051T=	XP_011523638.1:p.Leu684=
XM_011525337.1:c.1970T=	XP_011523639.1:p.Leu657=
XM_011525337.2:c.1970T=	XP_011523639.1:p.Leu657=
XM_011525338.1:c.1688T=	XP_011523640.1:p.Leu563=
XM_011525338.2:c.1688T=	XP_011523640.1:p.Leu563=
XM_011525339.1:c.2171T=	XP_011523641.1:p.Leu724=
XM_011525339.3:c.2171T=	XP_011523641.1:p.Leu724=
XM_011525340.1:c.2171T=	XP_011523642.1:p.Leu724=
XM_011525340.3:c.2171T=	XP_011523642.1:p.Leu724=
XM_017025200.1:c.1628T=	XP_016880689.1:p.Leu543=
XM_017025201.1:c.1628T=	XP_016880690.1:p.Leu543=
XM_017025202.1:c.257T=	XP_016880691.1:p.Leu86=
XM_017025203.1:c.257T=	XP_016880692.1:p.Leu86=