Canonical Allele Identifier: CA400479523

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715985G>A , CM000679.2:g.61715985G>A	GRCh38
NC_000017.10:g.59793346G>A , CM000679.1:g.59793346G>A	GRCh37
NC_000017.9:g.57148128G>A	NCBI36
NG_007409.2:g.152575C>T , LRG_300:g.152575C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2458C>T MANE Select	NP_114432.2:p.Gln820Ter
ENST00000259008.7:c.2458C>T MANE Select	ENSP00000259008.2:p.Gln820Ter
NM_032043.2:c.2458C>T , LRG_300t1:c.2458C>T	NP_114432.2:p.Gln820Ter
ENST00000259008.6:c.2458C>T	ENSP00000259008.2:p.Gln820Ter
ENST00000577598.5:c.2458C>T	ENSP00000464654.1:p.Gln820Ter
ENST00000682066.1:c.2588C>T	ENSP00000507191.1:n.2588C>T
ENST00000682073.1:n.1198C>T
ENST00000682433.1:n.1537C>T
ENST00000682453.1:c.2458C>T	ENSP00000506943.1:p.Gln820Ter
ENST00000682477.1:c.*1884C>T	ENSP00000507075.1:n.*1884C>T
ENST00000682589.1:n.8335C>T
ENST00000682755.1:c.2236C>T	ENSP00000507660.1:p.Gln746Ter
ENST00000682989.1:c.2458C>T	ENSP00000507786.1:p.Gln820Ter
ENST00000683039.1:c.2458C>T	ENSP00000508303.1:p.Gln820Ter
ENST00000683235.1:c.2458C>T	ENSP00000507646.1:p.Gln820Ter
ENST00000683535.1:n.588C>T
ENST00000684471.1:n.871C>T
ENST00000684584.1:c.1951C>T	ENSP00000508044.1:p.Gln651Ter
ENST00000684626.1:n.787C>T
ENST00000684769.1:c.523C>T	ENSP00000507691.1:p.Gln175Ter
XM_011525332.1:c.2518C>T	XP_011523634.1:p.Gln840Ter
XM_011525332.3:c.2518C>T	XP_011523634.1:p.Gln840Ter
XM_011525333.1:c.2518C>T	XP_011523635.1:p.Gln840Ter
XM_011525333.3:c.2518C>T	XP_011523635.1:p.Gln840Ter
XM_011525334.1:c.2518C>T	XP_011523636.1:p.Gln840Ter
XM_011525334.2:c.2518C>T	XP_011523636.1:p.Gln840Ter
XM_011525335.1:c.2458C>T	XP_011523637.1:p.Gln820Ter
XM_011525335.3:c.2458C>T	XP_011523637.1:p.Gln820Ter
XM_011525336.1:c.2398C>T	XP_011523638.1:p.Gln800Ter
XM_011525336.2:c.2398C>T	XP_011523638.1:p.Gln800Ter
XM_011525337.1:c.2317C>T	XP_011523639.1:p.Gln773Ter
XM_011525337.2:c.2317C>T	XP_011523639.1:p.Gln773Ter
XM_011525338.1:c.2035C>T	XP_011523640.1:p.Gln679Ter
XM_011525338.2:c.2035C>T	XP_011523640.1:p.Gln679Ter
XM_011525339.1:c.*99C>T	XP_011523641.1:n.*99C>T
XM_011525340.1:c.2518C>T	XP_011523642.1:p.Gln840Ter
XM_011525340.3:c.2518C>T	XP_011523642.1:p.Gln840Ter
XM_017025200.1:c.1975C>T	XP_016880689.1:p.Gln659Ter
XM_017025201.1:c.1975C>T	XP_016880690.1:p.Gln659Ter
XM_017025202.1:c.604C>T	XP_016880691.1:p.Gln202Ter
XM_017025203.1:c.604C>T	XP_016880692.1:p.Gln202Ter