Canonical Allele Identifier: CA400481699

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686034G>T , CM000679.2:g.61686034G>T	GRCh38
NC_000017.10:g.59763395G>T , CM000679.1:g.59763395G>T	GRCh37
NC_000017.9:g.57118177G>T	NCBI36
NG_007409.2:g.182526C>A , LRG_300:g.182526C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2707C>A MANE Select	NP_114432.2:p.Gln903Lys
ENST00000259008.7:c.2707C>A MANE Select	ENSP00000259008.2:p.Gln903Lys
NM_032043.2:c.2707C>A , LRG_300t1:c.2707C>A	NP_114432.2:p.Gln903Lys
ENST00000259008.6:c.2707C>A	ENSP00000259008.2:p.Gln903Lys
ENST00000577598.5:c.2707C>A	ENSP00000464654.1:p.Gln903Lys
ENST00000682066.1:c.2837C>A	ENSP00000507191.1:n.2837C>A
ENST00000682073.1:n.1447C>A
ENST00000682433.1:n.1786C>A
ENST00000682453.1:c.2707C>A	ENSP00000506943.1:p.Gln903Lys
ENST00000682477.1:c.*2133C>A	ENSP00000507075.1:n.*2133C>A
ENST00000682589.1:n.8584C>A
ENST00000682755.1:c.2485C>A	ENSP00000507660.1:p.Gln829Lys
ENST00000682989.1:c.2610-1894C>A	ENSP00000507786.1:n.2610-1894C>A
ENST00000683039.1:c.2707C>A	ENSP00000508303.1:p.Gln903Lys
ENST00000683235.1:c.*122C>A	ENSP00000507646.1:n.*122C>A
ENST00000683535.1:n.837C>A
ENST00000684471.1:n.1120C>A
ENST00000684584.1:c.2069-1894C>A	ENSP00000508044.1:n.2069-1894C>A
ENST00000684626.1:n.953C>A
ENST00000684769.1:c.897C>A	ENSP00000507691.1:n.897C>A
XM_011525332.1:c.2767C>A	XP_011523634.1:p.Gln923Lys
XM_011525332.3:c.2767C>A	XP_011523634.1:p.Gln923Lys
XM_011525333.1:c.2767C>A	XP_011523635.1:p.Gln923Lys
XM_011525333.3:c.2767C>A	XP_011523635.1:p.Gln923Lys
XM_011525334.1:c.2767C>A	XP_011523636.1:p.Gln923Lys
XM_011525334.2:c.2767C>A	XP_011523636.1:p.Gln923Lys
XM_011525335.1:c.2707C>A	XP_011523637.1:p.Gln903Lys
XM_011525335.3:c.2707C>A	XP_011523637.1:p.Gln903Lys
XM_011525336.1:c.2647C>A	XP_011523638.1:p.Gln883Lys
XM_011525336.2:c.2647C>A	XP_011523638.1:p.Gln883Lys
XM_011525337.1:c.2566C>A	XP_011523639.1:p.Gln856Lys
XM_011525337.2:c.2566C>A	XP_011523639.1:p.Gln856Lys
XM_011525338.1:c.2284C>A	XP_011523640.1:p.Gln762Lys
XM_011525338.2:c.2284C>A	XP_011523640.1:p.Gln762Lys
XM_017025200.1:c.2224C>A	XP_016880689.1:p.Gln742Lys
XM_017025201.1:c.2224C>A	XP_016880690.1:p.Gln742Lys
XM_017025202.1:c.853C>A	XP_016880691.1:p.Gln285Lys
XM_017025203.1:c.853C>A	XP_016880692.1:p.Gln285Lys