Canonical Allele Identifier: CA400481848

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686085T>A , CM000679.2:g.61686085T>A	GRCh38
NC_000017.10:g.59763446T>A , CM000679.1:g.59763446T>A	GRCh37
NC_000017.9:g.57118228T>A	NCBI36
NG_007409.2:g.182475A>T , LRG_300:g.182475A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032043.3:c.2656A>T MANE Select	NP_114432.2:p.Lys886Ter
ENST00000259008.7:c.2656A>T MANE Select	ENSP00000259008.2:p.Lys886Ter
NM_032043.2:c.2656A>T , LRG_300t1:c.2656A>T	NP_114432.2:p.Lys886Ter
ENST00000259008.6:c.2656A>T	ENSP00000259008.2:p.Lys886Ter
ENST00000577598.5:c.2656A>T	ENSP00000464654.1:p.Lys886Ter
ENST00000682066.1:c.2786A>T	ENSP00000507191.1:n.2786A>T
ENST00000682073.1:n.1396A>T
ENST00000682433.1:n.1735A>T
ENST00000682453.1:c.2656A>T	ENSP00000506943.1:p.Lys886Ter
ENST00000682477.1:c.*2082A>T	ENSP00000507075.1:n.*2082A>T
ENST00000682589.1:n.8533A>T
ENST00000682755.1:c.2434A>T	ENSP00000507660.1:p.Lys812Ter
ENST00000682989.1:c.2610-1945A>T	ENSP00000507786.1:n.2610-1945A>T
ENST00000683039.1:c.2656A>T	ENSP00000508303.1:p.Lys886Ter
ENST00000683235.1:c.*71A>T	ENSP00000507646.1:n.*71A>T
ENST00000683535.1:n.786A>T
ENST00000684471.1:n.1069A>T
ENST00000684584.1:c.2069-1945A>T	ENSP00000508044.1:n.2069-1945A>T
ENST00000684626.1:n.902A>T
ENST00000684769.1:c.846A>T	ENSP00000507691.1:n.846A>T
XM_011525332.1:c.2716A>T	XP_011523634.1:p.Lys906Ter
XM_011525332.3:c.2716A>T	XP_011523634.1:p.Lys906Ter
XM_011525333.1:c.2716A>T	XP_011523635.1:p.Lys906Ter
XM_011525333.3:c.2716A>T	XP_011523635.1:p.Lys906Ter
XM_011525334.1:c.2716A>T	XP_011523636.1:p.Lys906Ter
XM_011525334.2:c.2716A>T	XP_011523636.1:p.Lys906Ter
XM_011525335.1:c.2656A>T	XP_011523637.1:p.Lys886Ter
XM_011525335.3:c.2656A>T	XP_011523637.1:p.Lys886Ter
XM_011525336.1:c.2596A>T	XP_011523638.1:p.Lys866Ter
XM_011525336.2:c.2596A>T	XP_011523638.1:p.Lys866Ter
XM_011525337.1:c.2515A>T	XP_011523639.1:p.Lys839Ter
XM_011525337.2:c.2515A>T	XP_011523639.1:p.Lys839Ter
XM_011525338.1:c.2233A>T	XP_011523640.1:p.Lys745Ter
XM_011525338.2:c.2233A>T	XP_011523640.1:p.Lys745Ter
XM_011525340.1:c.*71A>T	XP_011523642.1:n.*71A>T
XM_011525340.3:c.*71A>T	XP_011523642.1:n.*71A>T
XM_017025200.1:c.2173A>T	XP_016880689.1:p.Lys725Ter
XM_017025201.1:c.2173A>T	XP_016880690.1:p.Lys725Ter
XM_017025202.1:c.802A>T	XP_016880691.1:p.Lys268Ter
XM_017025203.1:c.802A>T	XP_016880692.1:p.Lys268Ter