Canonical Allele Identifier: CA2269154948

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743026A= , CM000679.2:g.61743026A=	GRCh38
NC_000017.10:g.59820387A= , CM000679.1:g.59820387A=	GRCh37
NC_000017.9:g.57175169A=	NCBI36
NG_007409.2:g.125534T= , LRG_300:g.125534T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2366T=	ENSP00000463272.2:p.Val789=
ENST00000682066.1:c.2496T=	ENSP00000507191.1:n.2496T=
ENST00000682073.1:n.1106T=
ENST00000682433.1:n.1445T=
ENST00000682453.1:c.2366T=	ENSP00000506943.1:p.Val789=
ENST00000682477.1:c.*1792T=	ENSP00000507075.1:n.*1792T=
ENST00000682589.1:n.8243T=
ENST00000682755.1:c.2144T=	ENSP00000507660.1:p.Val715=
ENST00000682989.1:c.2366T=	ENSP00000507786.1:p.Val789=
ENST00000683039.1:c.2366T=	ENSP00000508303.1:p.Val789=
ENST00000683235.1:c.2366T=	ENSP00000507646.1:p.Val789=
ENST00000683381.1:c.2426T=	ENSP00000508184.1:p.Val809=
ENST00000683535.1:n.496T=
ENST00000684471.1:n.779T=
ENST00000684584.1:c.1859T=	ENSP00000508044.1:p.Val620=
ENST00000684769.1:c.431T=	ENSP00000507691.1:p.Val144=
ENST00000259008.7:c.2366T= MANE Select	ENSP00000259008.2:p.Val789=
ENST00000259008.6:c.2366T=	ENSP00000259008.2:p.Val789=
ENST00000577598.5:c.2366T=	ENSP00000464654.1:p.Val789=
ENST00000584322.1:c.349T=
NM_032043.2:c.2366T= , LRG_300t1:c.2366T=	NP_114432.2:p.Val789=
XM_011525332.1:c.2426T=	XP_011523634.1:p.Val809=
XM_011525333.1:c.2426T=	XP_011523635.1:p.Val809=
XM_011525334.1:c.2426T=	XP_011523636.1:p.Val809=
XM_011525335.1:c.2366T=	XP_011523637.1:p.Val789=
XM_011525336.1:c.2306T=	XP_011523638.1:p.Val769=
XM_011525337.1:c.2225T=	XP_011523639.1:p.Val742=
XM_011525338.1:c.1943T=	XP_011523640.1:p.Val648=
XM_011525339.1:c.2426T=	XP_011523641.1:p.Val809=
XM_011525340.1:c.2426T=	XP_011523642.1:p.Val809=
XR_934894.1:n.524-1155A=
XM_011525332.3:c.2426T=	XP_011523634.1:p.Val809=
XM_011525333.3:c.2426T=	XP_011523635.1:p.Val809=
XM_011525334.2:c.2426T=	XP_011523636.1:p.Val809=
XM_011525335.3:c.2366T=	XP_011523637.1:p.Val789=
XM_011525336.2:c.2306T=	XP_011523638.1:p.Val769=
XM_011525337.2:c.2225T=	XP_011523639.1:p.Val742=
XM_011525338.2:c.1943T=	XP_011523640.1:p.Val648=
XM_011525339.3:c.2426T=	XP_011523641.1:p.Val809=
XM_011525340.3:c.2426T=	XP_011523642.1:p.Val809=
XM_017025200.1:c.1883T=	XP_016880689.1:p.Val628=
XM_017025201.1:c.1883T=	XP_016880690.1:p.Val628=
XM_017025202.1:c.512T=	XP_016880691.1:p.Val171=
XM_017025203.1:c.512T=	XP_016880692.1:p.Val171=
NM_032043.3:c.2366T= MANE Select	NP_114432.2:p.Val789=