Canonical Allele Identifier: CA501151350

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744532C>T , CM000679.2:g.61744532C>T	GRCh38
NC_000017.10:g.59821893C>T , CM000679.1:g.59821893C>T	GRCh37
NC_000017.9:g.57176675C>T	NCBI36
NG_007409.2:g.124028G>A , LRG_300:g.124028G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2157G>A MANE Select	NP_114432.2:p.Leu719=
ENST00000259008.7:c.2157G>A MANE Select	ENSP00000259008.2:p.Leu719=
NM_032043.2:c.2157G>A , LRG_300t1:c.2157G>A	NP_114432.2:p.Leu719=
ENST00000259008.6:c.2157G>A	ENSP00000259008.2:p.Leu719=
ENST00000577598.5:c.2157G>A	ENSP00000464654.1:p.Leu719=
ENST00000579028.2:c.1739G>A	ENSP00000463827.2:n.1739G>A
ENST00000584322.1:c.140G>A
ENST00000584322.2:c.2157G>A	ENSP00000463272.2:p.Leu719=
ENST00000682066.1:c.2287G>A	ENSP00000507191.1:n.2287G>A
ENST00000682073.1:n.897G>A
ENST00000682433.1:n.1236G>A
ENST00000682453.1:c.2157G>A	ENSP00000506943.1:p.Leu719=
ENST00000682477.1:c.*1583G>A	ENSP00000507075.1:n.*1583G>A
ENST00000682589.1:n.8034G>A
ENST00000682755.1:c.1935G>A	ENSP00000507660.1:p.Leu645=
ENST00000682989.1:c.2157G>A	ENSP00000507786.1:p.Leu719=
ENST00000683039.1:c.2157G>A	ENSP00000508303.1:p.Leu719=
ENST00000683235.1:c.2157G>A	ENSP00000507646.1:p.Leu719=
ENST00000683381.1:c.2217G>A	ENSP00000508184.1:p.Leu739=
ENST00000683535.1:n.287G>A
ENST00000684471.1:n.570G>A
ENST00000684584.1:c.1650G>A	ENSP00000508044.1:p.Leu550=
ENST00000684769.1:c.222G>A	ENSP00000507691.1:p.Leu74=
XM_011525332.1:c.2217G>A	XP_011523634.1:p.Leu739=
XM_011525332.3:c.2217G>A	XP_011523634.1:p.Leu739=
XM_011525333.1:c.2217G>A	XP_011523635.1:p.Leu739=
XM_011525333.3:c.2217G>A	XP_011523635.1:p.Leu739=
XM_011525334.1:c.2217G>A	XP_011523636.1:p.Leu739=
XM_011525334.2:c.2217G>A	XP_011523636.1:p.Leu739=
XM_011525335.1:c.2157G>A	XP_011523637.1:p.Leu719=
XM_011525335.3:c.2157G>A	XP_011523637.1:p.Leu719=
XM_011525336.1:c.2097G>A	XP_011523638.1:p.Leu699=
XM_011525336.2:c.2097G>A	XP_011523638.1:p.Leu699=
XM_011525337.1:c.2016G>A	XP_011523639.1:p.Leu672=
XM_011525337.2:c.2016G>A	XP_011523639.1:p.Leu672=
XM_011525338.1:c.1734G>A	XP_011523640.1:p.Leu578=
XM_011525338.2:c.1734G>A	XP_011523640.1:p.Leu578=
XM_011525339.1:c.2217G>A	XP_011523641.1:p.Leu739=
XM_011525339.3:c.2217G>A	XP_011523641.1:p.Leu739=
XM_011525340.1:c.2217G>A	XP_011523642.1:p.Leu739=
XM_011525340.3:c.2217G>A	XP_011523642.1:p.Leu739=
XM_017025200.1:c.1674G>A	XP_016880689.1:p.Leu558=
XM_017025201.1:c.1674G>A	XP_016880690.1:p.Leu558=
XM_017025202.1:c.303G>A	XP_016880691.1:p.Leu101=
XM_017025203.1:c.303G>A	XP_016880692.1:p.Leu101=