Canonical Allele Identifier: CA501144683

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693475G>A , CM000679.2:g.61693475G>A	GRCh38
NC_000017.10:g.59770836G>A , CM000679.1:g.59770836G>A	GRCh37
NC_000017.9:g.57125618G>A	NCBI36
NG_007409.2:g.175085C>T , LRG_300:g.175085C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2530C>T MANE Select	NP_114432.2:p.Leu844=
ENST00000259008.7:c.2530C>T MANE Select	ENSP00000259008.2:p.Leu844=
NM_032043.2:c.2530C>T , LRG_300t1:c.2530C>T	NP_114432.2:p.Leu844=
ENST00000259008.6:c.2530C>T	ENSP00000259008.2:p.Leu844=
ENST00000577598.5:c.2530C>T	ENSP00000464654.1:p.Leu844=
ENST00000682066.1:c.2660C>T	ENSP00000507191.1:n.2660C>T
ENST00000682073.1:n.1270C>T
ENST00000682433.1:n.1609C>T
ENST00000682453.1:c.2530C>T	ENSP00000506943.1:p.Leu844=
ENST00000682477.1:c.*1956C>T	ENSP00000507075.1:n.*1956C>T
ENST00000682589.1:n.8407C>T
ENST00000682755.1:c.2308C>T	ENSP00000507660.1:p.Leu770=
ENST00000682989.1:c.2493-5003C>T	ENSP00000507786.1:n.2493-5003C>T
ENST00000683039.1:c.2530C>T	ENSP00000508303.1:p.Leu844=
ENST00000683235.1:c.2493-7310C>T	ENSP00000507646.1:n.2493-7310C>T
ENST00000683535.1:n.660C>T
ENST00000684471.1:n.943C>T
ENST00000684584.1:c.2023C>T	ENSP00000508044.1:p.Leu675=
ENST00000684626.1:n.822-7310C>T
ENST00000684769.1:c.595C>T	ENSP00000507691.1:p.Leu199=
XM_011525332.1:c.2590C>T	XP_011523634.1:p.Leu864=
XM_011525332.3:c.2590C>T	XP_011523634.1:p.Leu864=
XM_011525333.1:c.2590C>T	XP_011523635.1:p.Leu864=
XM_011525333.3:c.2590C>T	XP_011523635.1:p.Leu864=
XM_011525334.1:c.2590C>T	XP_011523636.1:p.Leu864=
XM_011525334.2:c.2590C>T	XP_011523636.1:p.Leu864=
XM_011525335.1:c.2530C>T	XP_011523637.1:p.Leu844=
XM_011525335.3:c.2530C>T	XP_011523637.1:p.Leu844=
XM_011525336.1:c.2470C>T	XP_011523638.1:p.Leu824=
XM_011525336.2:c.2470C>T	XP_011523638.1:p.Leu824=
XM_011525337.1:c.2389C>T	XP_011523639.1:p.Leu797=
XM_011525337.2:c.2389C>T	XP_011523639.1:p.Leu797=
XM_011525338.1:c.2107C>T	XP_011523640.1:p.Leu703=
XM_011525338.2:c.2107C>T	XP_011523640.1:p.Leu703=
XM_011525340.1:c.2553-7310C>T	XP_011523642.1:n.2553-7310C>T
XM_011525340.3:c.2553-7310C>T	XP_011523642.1:n.2553-7310C>T
XM_017025200.1:c.2047C>T	XP_016880689.1:p.Leu683=
XM_017025201.1:c.2047C>T	XP_016880690.1:p.Leu683=
XM_017025202.1:c.676C>T	XP_016880691.1:p.Leu226=
XM_017025203.1:c.676C>T	XP_016880692.1:p.Leu226=