Canonical Allele Identifier: CA2269130842

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683542T= , CM000679.2:g.61683542T=	GRCh38
NC_000017.10:g.59760903T= , CM000679.1:g.59760903T=	GRCh37
NC_000017.9:g.57115685T=	NCBI36
NG_007409.2:g.185018A= , LRG_300:g.185018A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2244A=
ENST00000682453.1:c.3504A=	ENSP00000506943.1:p.Lys1168=
ENST00000682477.1:c.*2930A=	ENSP00000507075.1:n.*2930A=
ENST00000682589.1:n.9381A=
ENST00000682755.1:c.3282A=	ENSP00000507660.1:p.Lys1094=
ENST00000682989.1:c.*595A=	ENSP00000507786.1:n.*595A=
ENST00000683039.1:c.3504A=	ENSP00000508303.1:p.Lys1168=
ENST00000683235.1:c.*919A=	ENSP00000507646.1:n.*919A=
ENST00000683535.1:n.1634A=
ENST00000684584.1:c.2667A=	ENSP00000508044.1:p.Lys889=
ENST00000684626.1:n.1750A=
ENST00000684769.1:c.1694A=	ENSP00000507691.1:n.1694A=
ENST00000259008.7:c.3504A= MANE Select	ENSP00000259008.2:p.Lys1168=
ENST00000259008.6:c.3504A=	ENSP00000259008.2:p.Lys1168=
NM_032043.2:c.3504A= , LRG_300t1:c.3504A=	NP_114432.2:p.Lys1168=
XM_011525332.1:c.3564A=	XP_011523634.1:p.Lys1188=
XM_011525333.1:c.3564A=	XP_011523635.1:p.Lys1188=
XM_011525334.1:c.3564A=	XP_011523636.1:p.Lys1188=
XM_011525335.1:c.3504A=	XP_011523637.1:p.Lys1168=
XM_011525336.1:c.3444A=	XP_011523638.1:p.Lys1148=
XM_011525337.1:c.3363A=	XP_011523639.1:p.Lys1121=
XM_011525338.1:c.3081A=	XP_011523640.1:p.Lys1027=
XM_011525332.3:c.3564A=	XP_011523634.1:p.Lys1188=
XM_011525333.3:c.3564A=	XP_011523635.1:p.Lys1188=
XM_011525334.2:c.3564A=	XP_011523636.1:p.Lys1188=
XM_011525335.3:c.3504A=	XP_011523637.1:p.Lys1168=
XM_011525336.2:c.3444A=	XP_011523638.1:p.Lys1148=
XM_011525337.2:c.3363A=	XP_011523639.1:p.Lys1121=
XM_011525338.2:c.3081A=	XP_011523640.1:p.Lys1027=
XM_017025200.1:c.3021A=	XP_016880689.1:p.Lys1007=
XM_017025201.1:c.3021A=	XP_016880690.1:p.Lys1007=
XM_017025202.1:c.1650A=	XP_016880691.1:p.Lys550=
XM_017025203.1:c.1650A=	XP_016880692.1:p.Lys550=
NM_032043.3:c.3504A= MANE Select	NP_114432.2:p.Lys1168=