Canonical Allele Identifier: CA2269144351

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61716051G= , CM000679.2:g.61716051G=	GRCh38
NC_000017.10:g.59793412G= , CM000679.1:g.59793412G=	GRCh37
NC_000017.9:g.57148194G=	NCBI36
NG_007409.2:g.152509C= , LRG_300:g.152509C=

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2392C= MANE Select	NP_114432.2:p.Arg798=
ENST00000259008.7:c.2392C= MANE Select	ENSP00000259008.2:p.Arg798=
NM_032043.2:c.2392C= , LRG_300t1:c.2392C=	NP_114432.2:p.Arg798=
ENST00000259008.6:c.2392C=	ENSP00000259008.2:p.Arg798=
ENST00000577598.5:c.2392C=	ENSP00000464654.1:p.Arg798=
ENST00000682066.1:c.2522C=	ENSP00000507191.1:n.2522C=
ENST00000682073.1:n.1132C=
ENST00000682433.1:n.1471C=
ENST00000682453.1:c.2392C=	ENSP00000506943.1:p.Arg798=
ENST00000682477.1:c.*1818C=	ENSP00000507075.1:n.*1818C=
ENST00000682589.1:n.8269C=
ENST00000682755.1:c.2170C=	ENSP00000507660.1:p.Arg724=
ENST00000682989.1:c.2392C=	ENSP00000507786.1:p.Arg798=
ENST00000683039.1:c.2392C=	ENSP00000508303.1:p.Arg798=
ENST00000683235.1:c.2392C=	ENSP00000507646.1:p.Arg798=
ENST00000683535.1:n.522C=
ENST00000684471.1:n.805C=
ENST00000684584.1:c.1885C=	ENSP00000508044.1:p.Arg629=
ENST00000684626.1:n.721C=
ENST00000684769.1:c.457C=	ENSP00000507691.1:p.Arg153=
XM_011525332.1:c.2452C=	XP_011523634.1:p.Arg818=
XM_011525332.3:c.2452C=	XP_011523634.1:p.Arg818=
XM_011525333.1:c.2452C=	XP_011523635.1:p.Arg818=
XM_011525333.3:c.2452C=	XP_011523635.1:p.Arg818=
XM_011525334.1:c.2452C=	XP_011523636.1:p.Arg818=
XM_011525334.2:c.2452C=	XP_011523636.1:p.Arg818=
XM_011525335.1:c.2392C=	XP_011523637.1:p.Arg798=
XM_011525335.3:c.2392C=	XP_011523637.1:p.Arg798=
XM_011525336.1:c.2332C=	XP_011523638.1:p.Arg778=
XM_011525336.2:c.2332C=	XP_011523638.1:p.Arg778=
XM_011525337.1:c.2251C=	XP_011523639.1:p.Arg751=
XM_011525337.2:c.2251C=	XP_011523639.1:p.Arg751=
XM_011525338.1:c.1969C=	XP_011523640.1:p.Arg657=
XM_011525338.2:c.1969C=	XP_011523640.1:p.Arg657=
XM_011525339.1:c.*33C=	XP_011523641.1:n.*33C=
XM_011525339.3:c.*33C=	XP_011523641.1:n.*33C=
XM_011525340.1:c.2452C=	XP_011523642.1:p.Arg818=
XM_011525340.3:c.2452C=	XP_011523642.1:p.Arg818=
XM_017025200.1:c.1909C=	XP_016880689.1:p.Arg637=
XM_017025201.1:c.1909C=	XP_016880690.1:p.Arg637=
XM_017025202.1:c.538C=	XP_016880691.1:p.Arg180=
XM_017025203.1:c.538C=	XP_016880692.1:p.Arg180=