Canonical Allele Identifier: CA400482297

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693429C>T , CM000679.2:g.61693429C>T	GRCh38
NC_000017.10:g.59770790C>T , CM000679.1:g.59770790C>T	GRCh37
NC_000017.9:g.57125572C>T	NCBI36
NG_007409.2:g.175131G>A , LRG_300:g.175131G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2575+1G>A MANE Select	NP_114432.2:n.2575+1G>A
ENST00000259008.7:c.2575+1G>A MANE Select	ENSP00000259008.2:n.2575+1G>A
NM_032043.2:c.2575+1G>A , LRG_300t1:c.2575+1G>A	NP_114432.2:n.2575+1G>A
ENST00000259008.6:c.2575+1G>A	ENSP00000259008.2:n.2575+1G>A
ENST00000577598.5:c.2575+1G>A	ENSP00000464654.1:n.2575+1G>A
ENST00000682066.1:c.2705+1G>A	ENSP00000507191.1:n.2705+1G>A
ENST00000682073.1:n.1315+1G>A
ENST00000682433.1:n.1654+1G>A
ENST00000682453.1:c.2575+1G>A	ENSP00000506943.1:n.2575+1G>A
ENST00000682477.1:c.*2001+1G>A	ENSP00000507075.1:n.*2001+1G>A
ENST00000682589.1:n.8452+1G>A
ENST00000682755.1:c.2353+1G>A	ENSP00000507660.1:n.2353+1G>A
ENST00000682989.1:c.2493-4957G>A	ENSP00000507786.1:n.2493-4957G>A
ENST00000683039.1:c.2575+1G>A	ENSP00000508303.1:n.2575+1G>A
ENST00000683235.1:c.2493-7264G>A	ENSP00000507646.1:n.2493-7264G>A
ENST00000683535.1:n.705+1G>A
ENST00000684471.1:n.988+1G>A
ENST00000684584.1:c.2068+1G>A	ENSP00000508044.1:n.2068+1G>A
ENST00000684626.1:n.822-7264G>A
ENST00000684769.1:c.640+1G>A	ENSP00000507691.1:n.640+1G>A
XM_011525332.1:c.2635+1G>A	XP_011523634.1:n.2635+1G>A
XM_011525332.3:c.2635+1G>A	XP_011523634.1:n.2635+1G>A
XM_011525333.1:c.2635+1G>A	XP_011523635.1:n.2635+1G>A
XM_011525333.3:c.2635+1G>A	XP_011523635.1:n.2635+1G>A
XM_011525334.1:c.2635+1G>A	XP_011523636.1:n.2635+1G>A
XM_011525334.2:c.2635+1G>A	XP_011523636.1:n.2635+1G>A
XM_011525335.1:c.2575+1G>A	XP_011523637.1:n.2575+1G>A
XM_011525335.3:c.2575+1G>A	XP_011523637.1:n.2575+1G>A
XM_011525336.1:c.2515+1G>A	XP_011523638.1:n.2515+1G>A
XM_011525336.2:c.2515+1G>A	XP_011523638.1:n.2515+1G>A
XM_011525337.1:c.2434+1G>A	XP_011523639.1:n.2434+1G>A
XM_011525337.2:c.2434+1G>A	XP_011523639.1:n.2434+1G>A
XM_011525338.1:c.2152+1G>A	XP_011523640.1:n.2152+1G>A
XM_011525338.2:c.2152+1G>A	XP_011523640.1:n.2152+1G>A
XM_011525340.1:c.2553-7264G>A	XP_011523642.1:n.2553-7264G>A
XM_011525340.3:c.2553-7264G>A	XP_011523642.1:n.2553-7264G>A
XM_017025200.1:c.2092+1G>A	XP_016880689.1:n.2092+1G>A
XM_017025201.1:c.2092+1G>A	XP_016880690.1:n.2092+1G>A
XM_017025202.1:c.721+1G>A	XP_016880691.1:n.721+1G>A
XM_017025203.1:c.721+1G>A	XP_016880692.1:n.721+1G>A