Canonical Allele Identifier: CA338792

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693442G>A , CM000679.2:g.61693442G>A	GRCh38
NC_000017.10:g.59770803G>A , CM000679.1:g.59770803G>A	GRCh37
NC_000017.9:g.57125585G>A	NCBI36
NG_007409.2:g.175118C>T , LRG_300:g.175118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2693C>T	ENSP00000507191.1:n.2693C>T
ENST00000682073.1:n.1303C>T
ENST00000682433.1:n.1642C>T
ENST00000682453.1:c.2563C>T	ENSP00000506943.1:p.Arg855Cys
ENST00000682477.1:c.*1989C>T	ENSP00000507075.1:n.*1989C>T
ENST00000682589.1:n.8440C>T
ENST00000682755.1:c.2341C>T	ENSP00000507660.1:p.Arg781Cys
ENST00000682989.1:c.2493-4970C>T	ENSP00000507786.1:n.2493-4970C>T
ENST00000683039.1:c.2563C>T	ENSP00000508303.1:p.Arg855Cys
ENST00000683235.1:c.2493-7277C>T	ENSP00000507646.1:n.2493-7277C>T
ENST00000683535.1:n.693C>T
ENST00000684471.1:n.976C>T
ENST00000684584.1:c.2056C>T	ENSP00000508044.1:p.Arg686Cys
ENST00000684626.1:n.822-7277C>T
ENST00000684769.1:c.628C>T	ENSP00000507691.1:p.Arg210Cys
ENST00000259008.7:c.2563C>T MANE Select	ENSP00000259008.2:p.Arg855Cys
ENST00000259008.6:c.2563C>T	ENSP00000259008.2:p.Arg855Cys
ENST00000577598.5:c.2563C>T	ENSP00000464654.1:p.Arg855Cys
NM_032043.2:c.2563C>T , LRG_300t1:c.2563C>T	NP_114432.2:p.Arg855Cys
XM_011525332.1:c.2623C>T	XP_011523634.1:p.Arg875Cys
XM_011525333.1:c.2623C>T	XP_011523635.1:p.Arg875Cys
XM_011525334.1:c.2623C>T	XP_011523636.1:p.Arg875Cys
XM_011525335.1:c.2563C>T	XP_011523637.1:p.Arg855Cys
XM_011525336.1:c.2503C>T	XP_011523638.1:p.Arg835Cys
XM_011525337.1:c.2422C>T	XP_011523639.1:p.Arg808Cys
XM_011525338.1:c.2140C>T	XP_011523640.1:p.Arg714Cys
XM_011525340.1:c.2553-7277C>T	XP_011523642.1:n.2553-7277C>T
XM_011525332.3:c.2623C>T	XP_011523634.1:p.Arg875Cys
XM_011525333.3:c.2623C>T	XP_011523635.1:p.Arg875Cys
XM_011525334.2:c.2623C>T	XP_011523636.1:p.Arg875Cys
XM_011525335.3:c.2563C>T	XP_011523637.1:p.Arg855Cys
XM_011525336.2:c.2503C>T	XP_011523638.1:p.Arg835Cys
XM_011525337.2:c.2422C>T	XP_011523639.1:p.Arg808Cys
XM_011525338.2:c.2140C>T	XP_011523640.1:p.Arg714Cys
XM_011525340.3:c.2553-7277C>T	XP_011523642.1:n.2553-7277C>T
XM_017025200.1:c.2080C>T	XP_016880689.1:p.Arg694Cys
XM_017025201.1:c.2080C>T	XP_016880690.1:p.Arg694Cys
XM_017025202.1:c.709C>T	XP_016880691.1:p.Arg237Cys
XM_017025203.1:c.709C>T	XP_016880692.1:p.Arg237Cys
NM_032043.3:c.2563C>T MANE Select	NP_114432.2:p.Arg855Cys