Canonical Allele Identifier: CA400481439

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685917A>G , CM000679.2:g.61685917A>G	GRCh38
NC_000017.10:g.59763278A>G , CM000679.1:g.59763278A>G	GRCh37
NC_000017.9:g.57118060A>G	NCBI36
NG_007409.2:g.182643T>C , LRG_300:g.182643T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2824T>C MANE Select	NP_114432.2:p.Cys942Arg
ENST00000259008.7:c.2824T>C MANE Select	ENSP00000259008.2:p.Cys942Arg
NM_032043.2:c.2824T>C , LRG_300t1:c.2824T>C	NP_114432.2:p.Cys942Arg
ENST00000259008.6:c.2824T>C	ENSP00000259008.2:p.Cys942Arg
ENST00000577598.5:c.2824T>C	ENSP00000464654.1:p.Cys942Arg
ENST00000682066.1:c.2954T>C	ENSP00000507191.1:n.2954T>C
ENST00000682073.1:n.1564T>C
ENST00000682433.1:n.1903T>C
ENST00000682453.1:c.2824T>C	ENSP00000506943.1:p.Cys942Arg
ENST00000682477.1:c.*2250T>C	ENSP00000507075.1:n.*2250T>C
ENST00000682589.1:n.8701T>C
ENST00000682755.1:c.2602T>C	ENSP00000507660.1:p.Cys868Arg
ENST00000682989.1:c.2610-1777T>C	ENSP00000507786.1:n.2610-1777T>C
ENST00000683039.1:c.2824T>C	ENSP00000508303.1:p.Cys942Arg
ENST00000683235.1:c.*239T>C	ENSP00000507646.1:n.*239T>C
ENST00000683535.1:n.954T>C
ENST00000684471.1:n.1237T>C
ENST00000684584.1:c.2069-1777T>C	ENSP00000508044.1:n.2069-1777T>C
ENST00000684626.1:n.1070T>C
ENST00000684769.1:c.1014T>C	ENSP00000507691.1:n.1014T>C
XM_011525332.1:c.2884T>C	XP_011523634.1:p.Cys962Arg
XM_011525332.3:c.2884T>C	XP_011523634.1:p.Cys962Arg
XM_011525333.1:c.2884T>C	XP_011523635.1:p.Cys962Arg
XM_011525333.3:c.2884T>C	XP_011523635.1:p.Cys962Arg
XM_011525334.1:c.2884T>C	XP_011523636.1:p.Cys962Arg
XM_011525334.2:c.2884T>C	XP_011523636.1:p.Cys962Arg
XM_011525335.1:c.2824T>C	XP_011523637.1:p.Cys942Arg
XM_011525335.3:c.2824T>C	XP_011523637.1:p.Cys942Arg
XM_011525336.1:c.2764T>C	XP_011523638.1:p.Cys922Arg
XM_011525336.2:c.2764T>C	XP_011523638.1:p.Cys922Arg
XM_011525337.1:c.2683T>C	XP_011523639.1:p.Cys895Arg
XM_011525337.2:c.2683T>C	XP_011523639.1:p.Cys895Arg
XM_011525338.1:c.2401T>C	XP_011523640.1:p.Cys801Arg
XM_011525338.2:c.2401T>C	XP_011523640.1:p.Cys801Arg
XM_017025200.1:c.2341T>C	XP_016880689.1:p.Cys781Arg
XM_017025201.1:c.2341T>C	XP_016880690.1:p.Cys781Arg
XM_017025202.1:c.970T>C	XP_016880691.1:p.Cys324Arg
XM_017025203.1:c.970T>C	XP_016880692.1:p.Cys324Arg