Canonical Allele Identifier: CA2269130816

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683498C= , CM000679.2:g.61683498C=	GRCh38
NC_000017.10:g.59760859C= , CM000679.1:g.59760859C=	GRCh37
NC_000017.9:g.57115641C=	NCBI36
NG_007409.2:g.185062G= , LRG_300:g.185062G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2288G=
ENST00000682453.1:c.3548G=	ENSP00000506943.1:p.Arg1183=
ENST00000682477.1:c.*2974G=	ENSP00000507075.1:n.*2974G=
ENST00000682589.1:n.9425G=
ENST00000682755.1:c.3326G=	ENSP00000507660.1:p.Arg1109=
ENST00000682989.1:c.*639G=	ENSP00000507786.1:n.*639G=
ENST00000683039.1:c.3548G=	ENSP00000508303.1:p.Arg1183=
ENST00000683235.1:c.*963G=	ENSP00000507646.1:n.*963G=
ENST00000683535.1:n.1678G=
ENST00000684584.1:c.2711G=	ENSP00000508044.1:p.Arg904=
ENST00000684626.1:n.1794G=
ENST00000684769.1:c.1738G=	ENSP00000507691.1:n.1738G=
ENST00000259008.7:c.3548G= MANE Select	ENSP00000259008.2:p.Arg1183=
ENST00000259008.6:c.3548G=	ENSP00000259008.2:p.Arg1183=
NM_032043.2:c.3548G= , LRG_300t1:c.3548G=	NP_114432.2:p.Arg1183=
XM_011525332.1:c.3608G=	XP_011523634.1:p.Arg1203=
XM_011525333.1:c.3608G=	XP_011523635.1:p.Arg1203=
XM_011525334.1:c.3608G=	XP_011523636.1:p.Arg1203=
XM_011525335.1:c.3548G=	XP_011523637.1:p.Arg1183=
XM_011525336.1:c.3488G=	XP_011523638.1:p.Arg1163=
XM_011525337.1:c.3407G=	XP_011523639.1:p.Arg1136=
XM_011525338.1:c.3125G=	XP_011523640.1:p.Arg1042=
XM_011525332.3:c.3608G=	XP_011523634.1:p.Arg1203=
XM_011525333.3:c.3608G=	XP_011523635.1:p.Arg1203=
XM_011525334.2:c.3608G=	XP_011523636.1:p.Arg1203=
XM_011525335.3:c.3548G=	XP_011523637.1:p.Arg1183=
XM_011525336.2:c.3488G=	XP_011523638.1:p.Arg1163=
XM_011525337.2:c.3407G=	XP_011523639.1:p.Arg1136=
XM_011525338.2:c.3125G=	XP_011523640.1:p.Arg1042=
XM_017025200.1:c.3065G=	XP_016880689.1:p.Arg1022=
XM_017025201.1:c.3065G=	XP_016880690.1:p.Arg1022=
XM_017025202.1:c.1694G=	XP_016880691.1:p.Arg565=
XM_017025203.1:c.1694G=	XP_016880692.1:p.Arg565=
NM_032043.3:c.3548G= MANE Select	NP_114432.2:p.Arg1183=