Canonical Allele Identifier: CA400482305

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693430C>G , CM000679.2:g.61693430C>G	GRCh38
NC_000017.10:g.59770791C>G , CM000679.1:g.59770791C>G	GRCh37
NC_000017.9:g.57125573C>G	NCBI36
NG_007409.2:g.175130G>C , LRG_300:g.175130G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2575G>C MANE Select	NP_114432.2:p.Gly859Arg
ENST00000259008.7:c.2575G>C MANE Select	ENSP00000259008.2:p.Gly859Arg
NM_032043.2:c.2575G>C , LRG_300t1:c.2575G>C	NP_114432.2:p.Gly859Arg
ENST00000259008.6:c.2575G>C	ENSP00000259008.2:p.Gly859Arg
ENST00000577598.5:c.2575G>C	ENSP00000464654.1:p.Gly859Arg
ENST00000682066.1:c.2705G>C	ENSP00000507191.1:n.2705G>C
ENST00000682073.1:n.1315G>C
ENST00000682433.1:n.1654G>C
ENST00000682453.1:c.2575G>C	ENSP00000506943.1:p.Gly859Arg
ENST00000682477.1:c.*2001G>C	ENSP00000507075.1:n.*2001G>C
ENST00000682589.1:n.8452G>C
ENST00000682755.1:c.2353G>C	ENSP00000507660.1:p.Gly785Arg
ENST00000682989.1:c.2493-4958G>C	ENSP00000507786.1:n.2493-4958G>C
ENST00000683039.1:c.2575G>C	ENSP00000508303.1:p.Gly859Arg
ENST00000683235.1:c.2493-7265G>C	ENSP00000507646.1:n.2493-7265G>C
ENST00000683535.1:n.705G>C
ENST00000684471.1:n.988G>C
ENST00000684584.1:c.2068G>C	ENSP00000508044.1:p.Asp690His
ENST00000684626.1:n.822-7265G>C
ENST00000684769.1:c.640G>C	ENSP00000507691.1:p.Glu214Gln
XM_011525332.1:c.2635G>C	XP_011523634.1:p.Gly879Arg
XM_011525332.3:c.2635G>C	XP_011523634.1:p.Gly879Arg
XM_011525333.1:c.2635G>C	XP_011523635.1:p.Gly879Arg
XM_011525333.3:c.2635G>C	XP_011523635.1:p.Gly879Arg
XM_011525334.1:c.2635G>C	XP_011523636.1:p.Gly879Arg
XM_011525334.2:c.2635G>C	XP_011523636.1:p.Gly879Arg
XM_011525335.1:c.2575G>C	XP_011523637.1:p.Gly859Arg
XM_011525335.3:c.2575G>C	XP_011523637.1:p.Gly859Arg
XM_011525336.1:c.2515G>C	XP_011523638.1:p.Gly839Arg
XM_011525336.2:c.2515G>C	XP_011523638.1:p.Gly839Arg
XM_011525337.1:c.2434G>C	XP_011523639.1:p.Gly812Arg
XM_011525337.2:c.2434G>C	XP_011523639.1:p.Gly812Arg
XM_011525338.1:c.2152G>C	XP_011523640.1:p.Gly718Arg
XM_011525338.2:c.2152G>C	XP_011523640.1:p.Gly718Arg
XM_011525340.1:c.2553-7265G>C	XP_011523642.1:n.2553-7265G>C
XM_011525340.3:c.2553-7265G>C	XP_011523642.1:n.2553-7265G>C
XM_017025200.1:c.2092G>C	XP_016880689.1:p.Gly698Arg
XM_017025201.1:c.2092G>C	XP_016880690.1:p.Gly698Arg
XM_017025202.1:c.721G>C	XP_016880691.1:p.Gly241Arg
XM_017025203.1:c.721G>C	XP_016880692.1:p.Gly241Arg