Canonical Allele Identifier: CA2269130992

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683784G= , CM000679.2:g.61683784G=	GRCh38
NC_000017.10:g.59761145G= , CM000679.1:g.59761145G=	GRCh37
NC_000017.9:g.57115927G=	NCBI36
NG_007409.2:g.184776C= , LRG_300:g.184776C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2002C=
ENST00000682453.1:c.3262C=	ENSP00000506943.1:p.His1088=
ENST00000682477.1:c.*2688C=	ENSP00000507075.1:n.*2688C=
ENST00000682589.1:n.9139C=
ENST00000682755.1:c.3040C=	ENSP00000507660.1:p.His1014=
ENST00000682989.1:c.*353C=	ENSP00000507786.1:n.*353C=
ENST00000683039.1:c.3262C=	ENSP00000508303.1:p.His1088=
ENST00000683235.1:c.*677C=	ENSP00000507646.1:n.*677C=
ENST00000683535.1:n.1392C=
ENST00000684584.1:c.2425C=	ENSP00000508044.1:p.His809=
ENST00000684626.1:n.1508C=
ENST00000684769.1:c.1452C=	ENSP00000507691.1:n.1452C=
ENST00000259008.7:c.3262C= MANE Select	ENSP00000259008.2:p.His1088=
ENST00000259008.6:c.3262C=	ENSP00000259008.2:p.His1088=
NM_032043.2:c.3262C= , LRG_300t1:c.3262C=	NP_114432.2:p.His1088=
XM_011525332.1:c.3322C=	XP_011523634.1:p.His1108=
XM_011525333.1:c.3322C=	XP_011523635.1:p.His1108=
XM_011525334.1:c.3322C=	XP_011523636.1:p.His1108=
XM_011525335.1:c.3262C=	XP_011523637.1:p.His1088=
XM_011525336.1:c.3202C=	XP_011523638.1:p.His1068=
XM_011525337.1:c.3121C=	XP_011523639.1:p.His1041=
XM_011525338.1:c.2839C=	XP_011523640.1:p.His947=
XM_011525332.3:c.3322C=	XP_011523634.1:p.His1108=
XM_011525333.3:c.3322C=	XP_011523635.1:p.His1108=
XM_011525334.2:c.3322C=	XP_011523636.1:p.His1108=
XM_011525335.3:c.3262C=	XP_011523637.1:p.His1088=
XM_011525336.2:c.3202C=	XP_011523638.1:p.His1068=
XM_011525337.2:c.3121C=	XP_011523639.1:p.His1041=
XM_011525338.2:c.2839C=	XP_011523640.1:p.His947=
XM_017025200.1:c.2779C=	XP_016880689.1:p.His927=
XM_017025201.1:c.2779C=	XP_016880690.1:p.His927=
XM_017025202.1:c.1408C=	XP_016880691.1:p.His470=
XM_017025203.1:c.1408C=	XP_016880692.1:p.His470=
NM_032043.3:c.3262C= MANE Select	NP_114432.2:p.His1088=