Canonical Allele Identifier: CA2269130938

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683710A= , CM000679.2:g.61683710A=	GRCh38
NC_000017.10:g.59761071A= , CM000679.1:g.59761071A=	GRCh37
NC_000017.9:g.57115853A=	NCBI36
NG_007409.2:g.184850T= , LRG_300:g.184850T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2076T=
ENST00000682453.1:c.3336T=	ENSP00000506943.1:p.Asp1112=
ENST00000682477.1:c.*2762T=	ENSP00000507075.1:n.*2762T=
ENST00000682589.1:n.9213T=
ENST00000682755.1:c.3114T=	ENSP00000507660.1:p.Asp1038=
ENST00000682989.1:c.*427T=	ENSP00000507786.1:n.*427T=
ENST00000683039.1:c.3336T=	ENSP00000508303.1:p.Asp1112=
ENST00000683235.1:c.*751T=	ENSP00000507646.1:n.*751T=
ENST00000683535.1:n.1466T=
ENST00000684584.1:c.2499T=	ENSP00000508044.1:p.Asp833=
ENST00000684626.1:n.1582T=
ENST00000684769.1:c.1526T=	ENSP00000507691.1:n.1526T=
ENST00000259008.7:c.3336T= MANE Select	ENSP00000259008.2:p.Asp1112=
ENST00000259008.6:c.3336T=	ENSP00000259008.2:p.Asp1112=
NM_032043.2:c.3336T= , LRG_300t1:c.3336T=	NP_114432.2:p.Asp1112=
XM_011525332.1:c.3396T=	XP_011523634.1:p.Asp1132=
XM_011525333.1:c.3396T=	XP_011523635.1:p.Asp1132=
XM_011525334.1:c.3396T=	XP_011523636.1:p.Asp1132=
XM_011525335.1:c.3336T=	XP_011523637.1:p.Asp1112=
XM_011525336.1:c.3276T=	XP_011523638.1:p.Asp1092=
XM_011525337.1:c.3195T=	XP_011523639.1:p.Asp1065=
XM_011525338.1:c.2913T=	XP_011523640.1:p.Asp971=
XM_011525332.3:c.3396T=	XP_011523634.1:p.Asp1132=
XM_011525333.3:c.3396T=	XP_011523635.1:p.Asp1132=
XM_011525334.2:c.3396T=	XP_011523636.1:p.Asp1132=
XM_011525335.3:c.3336T=	XP_011523637.1:p.Asp1112=
XM_011525336.2:c.3276T=	XP_011523638.1:p.Asp1092=
XM_011525337.2:c.3195T=	XP_011523639.1:p.Asp1065=
XM_011525338.2:c.2913T=	XP_011523640.1:p.Asp971=
XM_017025200.1:c.2853T=	XP_016880689.1:p.Asp951=
XM_017025201.1:c.2853T=	XP_016880690.1:p.Asp951=
XM_017025202.1:c.1482T=	XP_016880691.1:p.Asp494=
XM_017025203.1:c.1482T=	XP_016880692.1:p.Asp494=
NM_032043.3:c.3336T= MANE Select	NP_114432.2:p.Asp1112=