Canonical Allele Identifier: CA400483214

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744547C>T , CM000679.2:g.61744547C>T	GRCh38
NC_000017.10:g.59821908C>T , CM000679.1:g.59821908C>T	GRCh37
NC_000017.9:g.57176690C>T	NCBI36
NG_007409.2:g.124013G>A , LRG_300:g.124013G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2142G>A MANE Select	NP_114432.2:p.Trp714Ter
ENST00000259008.7:c.2142G>A MANE Select	ENSP00000259008.2:p.Trp714Ter
NM_032043.2:c.2142G>A , LRG_300t1:c.2142G>A	NP_114432.2:p.Trp714Ter
ENST00000259008.6:c.2142G>A	ENSP00000259008.2:p.Trp714Ter
ENST00000577598.5:c.2142G>A	ENSP00000464654.1:p.Trp714Ter
ENST00000579028.2:c.1724G>A	ENSP00000463827.2:n.1724G>A
ENST00000584322.1:c.125G>A
ENST00000584322.2:c.2142G>A	ENSP00000463272.2:p.Trp714Ter
ENST00000682066.1:c.2272G>A	ENSP00000507191.1:n.2272G>A
ENST00000682073.1:n.882G>A
ENST00000682433.1:n.1221G>A
ENST00000682453.1:c.2142G>A	ENSP00000506943.1:p.Trp714Ter
ENST00000682477.1:c.*1568G>A	ENSP00000507075.1:n.*1568G>A
ENST00000682589.1:n.8019G>A
ENST00000682755.1:c.1920G>A	ENSP00000507660.1:p.Trp640Ter
ENST00000682989.1:c.2142G>A	ENSP00000507786.1:p.Trp714Ter
ENST00000683039.1:c.2142G>A	ENSP00000508303.1:p.Trp714Ter
ENST00000683235.1:c.2142G>A	ENSP00000507646.1:p.Trp714Ter
ENST00000683381.1:c.2202G>A	ENSP00000508184.1:p.Trp734Ter
ENST00000683535.1:n.272G>A
ENST00000684471.1:n.555G>A
ENST00000684584.1:c.1635G>A	ENSP00000508044.1:p.Trp545Ter
ENST00000684769.1:c.207G>A	ENSP00000507691.1:p.Trp69Ter
XM_011525332.1:c.2202G>A	XP_011523634.1:p.Trp734Ter
XM_011525332.3:c.2202G>A	XP_011523634.1:p.Trp734Ter
XM_011525333.1:c.2202G>A	XP_011523635.1:p.Trp734Ter
XM_011525333.3:c.2202G>A	XP_011523635.1:p.Trp734Ter
XM_011525334.1:c.2202G>A	XP_011523636.1:p.Trp734Ter
XM_011525334.2:c.2202G>A	XP_011523636.1:p.Trp734Ter
XM_011525335.1:c.2142G>A	XP_011523637.1:p.Trp714Ter
XM_011525335.3:c.2142G>A	XP_011523637.1:p.Trp714Ter
XM_011525336.1:c.2082G>A	XP_011523638.1:p.Trp694Ter
XM_011525336.2:c.2082G>A	XP_011523638.1:p.Trp694Ter
XM_011525337.1:c.2001G>A	XP_011523639.1:p.Trp667Ter
XM_011525337.2:c.2001G>A	XP_011523639.1:p.Trp667Ter
XM_011525338.1:c.1719G>A	XP_011523640.1:p.Trp573Ter
XM_011525338.2:c.1719G>A	XP_011523640.1:p.Trp573Ter
XM_011525339.1:c.2202G>A	XP_011523641.1:p.Trp734Ter
XM_011525339.3:c.2202G>A	XP_011523641.1:p.Trp734Ter
XM_011525340.1:c.2202G>A	XP_011523642.1:p.Trp734Ter
XM_011525340.3:c.2202G>A	XP_011523642.1:p.Trp734Ter
XM_017025200.1:c.1659G>A	XP_016880689.1:p.Trp553Ter
XM_017025201.1:c.1659G>A	XP_016880690.1:p.Trp553Ter
XM_017025202.1:c.288G>A	XP_016880691.1:p.Trp96Ter
XM_017025203.1:c.288G>A	XP_016880692.1:p.Trp96Ter