Canonical Allele Identifier: CA292280832

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61776479T>C , CM000679.2:g.61776479T>C	GRCh38
NC_000017.10:g.59853840T>C , CM000679.1:g.59853840T>C	GRCh37
NC_000017.9:g.57208622T>C	NCBI36
NG_007409.2:g.92081A>G , LRG_300:g.92081A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2019A>G MANE Select	NP_114432.2:p.Gln673=
ENST00000259008.7:c.2019A>G MANE Select	ENSP00000259008.2:p.Gln673=
NM_032043.2:c.2019A>G , LRG_300t1:c.2019A>G	NP_114432.2:p.Gln673=
ENST00000259008.6:c.2019A>G	ENSP00000259008.2:p.Gln673=
ENST00000577598.5:c.2019A>G	ENSP00000464654.1:p.Gln673=
ENST00000579028.1:c.712A>G
ENST00000579028.2:c.1601A>G	ENSP00000463827.2:n.1601A>G
ENST00000583837.5:n.101A>G
ENST00000584322.1:c.2A>G
ENST00000584322.2:c.2019A>G	ENSP00000463272.2:p.Gln673=
ENST00000682066.1:c.1512A>G	ENSP00000507191.1:p.Gln504=
ENST00000682073.1:n.759A>G
ENST00000682433.1:n.1098A>G
ENST00000682453.1:c.2019A>G	ENSP00000506943.1:p.Gln673=
ENST00000682477.1:c.*1445A>G	ENSP00000507075.1:n.*1445A>G
ENST00000682589.1:n.7896A>G
ENST00000682611.1:c.1678A>G	ENSP00000508326.1:n.1678A>G
ENST00000682755.1:c.1797A>G	ENSP00000507660.1:p.Gln599=
ENST00000682989.1:c.2019A>G	ENSP00000507786.1:p.Gln673=
ENST00000683039.1:c.2019A>G	ENSP00000508303.1:p.Gln673=
ENST00000683235.1:c.2019A>G	ENSP00000507646.1:p.Gln673=
ENST00000683381.1:c.2079A>G	ENSP00000508184.1:p.Gln693=
ENST00000683535.1:n.149A>G
ENST00000684471.1:n.432A>G
ENST00000684584.1:c.1512A>G	ENSP00000508044.1:p.Gln504=
ENST00000684769.1:c.84A>G	ENSP00000507691.1:p.Gln28=
XM_011525332.1:c.2079A>G	XP_011523634.1:p.Gln693=
XM_011525332.3:c.2079A>G	XP_011523634.1:p.Gln693=
XM_011525333.1:c.2079A>G	XP_011523635.1:p.Gln693=
XM_011525333.3:c.2079A>G	XP_011523635.1:p.Gln693=
XM_011525334.1:c.2079A>G	XP_011523636.1:p.Gln693=
XM_011525334.2:c.2079A>G	XP_011523636.1:p.Gln693=
XM_011525335.1:c.2019A>G	XP_011523637.1:p.Gln673=
XM_011525335.3:c.2019A>G	XP_011523637.1:p.Gln673=
XM_011525336.1:c.1959A>G	XP_011523638.1:p.Gln653=
XM_011525336.2:c.1959A>G	XP_011523638.1:p.Gln653=
XM_011525337.1:c.1878A>G	XP_011523639.1:p.Gln626=
XM_011525337.2:c.1878A>G	XP_011523639.1:p.Gln626=
XM_011525338.1:c.1596A>G	XP_011523640.1:p.Gln532=
XM_011525338.2:c.1596A>G	XP_011523640.1:p.Gln532=
XM_011525339.1:c.2079A>G	XP_011523641.1:p.Gln693=
XM_011525339.3:c.2079A>G	XP_011523641.1:p.Gln693=
XM_011525340.1:c.2079A>G	XP_011523642.1:p.Gln693=
XM_011525340.3:c.2079A>G	XP_011523642.1:p.Gln693=
XM_017025200.1:c.1536A>G	XP_016880689.1:p.Gln512=
XM_017025201.1:c.1536A>G	XP_016880690.1:p.Gln512=
XM_017025202.1:c.165A>G	XP_016880691.1:p.Gln55=
XM_017025203.1:c.165A>G	XP_016880692.1:p.Gln55=