Canonical Allele Identifier: CA2269130949

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683725T= , CM000679.2:g.61683725T=	GRCh38
NC_000017.10:g.59761086T= , CM000679.1:g.59761086T=	GRCh37
NC_000017.9:g.57115868T=	NCBI36
NG_007409.2:g.184835A= , LRG_300:g.184835A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2061A=
ENST00000682453.1:c.3321A=	ENSP00000506943.1:p.Leu1107=
ENST00000682477.1:c.*2747A=	ENSP00000507075.1:n.*2747A=
ENST00000682589.1:n.9198A=
ENST00000682755.1:c.3099A=	ENSP00000507660.1:p.Leu1033=
ENST00000682989.1:c.*412A=	ENSP00000507786.1:n.*412A=
ENST00000683039.1:c.3321A=	ENSP00000508303.1:p.Leu1107=
ENST00000683235.1:c.*736A=	ENSP00000507646.1:n.*736A=
ENST00000683535.1:n.1451A=
ENST00000684584.1:c.2484A=	ENSP00000508044.1:p.Leu828=
ENST00000684626.1:n.1567A=
ENST00000684769.1:c.1511A=	ENSP00000507691.1:n.1511A=
ENST00000259008.7:c.3321A= MANE Select	ENSP00000259008.2:p.Leu1107=
ENST00000259008.6:c.3321A=	ENSP00000259008.2:p.Leu1107=
NM_032043.2:c.3321A= , LRG_300t1:c.3321A=	NP_114432.2:p.Leu1107=
XM_011525332.1:c.3381A=	XP_011523634.1:p.Leu1127=
XM_011525333.1:c.3381A=	XP_011523635.1:p.Leu1127=
XM_011525334.1:c.3381A=	XP_011523636.1:p.Leu1127=
XM_011525335.1:c.3321A=	XP_011523637.1:p.Leu1107=
XM_011525336.1:c.3261A=	XP_011523638.1:p.Leu1087=
XM_011525337.1:c.3180A=	XP_011523639.1:p.Leu1060=
XM_011525338.1:c.2898A=	XP_011523640.1:p.Leu966=
XM_011525332.3:c.3381A=	XP_011523634.1:p.Leu1127=
XM_011525333.3:c.3381A=	XP_011523635.1:p.Leu1127=
XM_011525334.2:c.3381A=	XP_011523636.1:p.Leu1127=
XM_011525335.3:c.3321A=	XP_011523637.1:p.Leu1107=
XM_011525336.2:c.3261A=	XP_011523638.1:p.Leu1087=
XM_011525337.2:c.3180A=	XP_011523639.1:p.Leu1060=
XM_011525338.2:c.2898A=	XP_011523640.1:p.Leu966=
XM_017025200.1:c.2838A=	XP_016880689.1:p.Leu946=
XM_017025201.1:c.2838A=	XP_016880690.1:p.Leu946=
XM_017025202.1:c.1467A=	XP_016880691.1:p.Leu489=
XM_017025203.1:c.1467A=	XP_016880692.1:p.Leu489=
NM_032043.3:c.3321A= MANE Select	NP_114432.2:p.Leu1107=