Canonical Allele Identifier: CA2269130846

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683549A= , CM000679.2:g.61683549A=	GRCh38
NC_000017.10:g.59760910A= , CM000679.1:g.59760910A=	GRCh37
NC_000017.9:g.57115692A=	NCBI36
NG_007409.2:g.185011T= , LRG_300:g.185011T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2237T=
ENST00000682453.1:c.3497T=	ENSP00000506943.1:p.Leu1166=
ENST00000682477.1:c.*2923T=	ENSP00000507075.1:n.*2923T=
ENST00000682589.1:n.9374T=
ENST00000682755.1:c.3275T=	ENSP00000507660.1:p.Leu1092=
ENST00000682989.1:c.*588T=	ENSP00000507786.1:n.*588T=
ENST00000683039.1:c.3497T=	ENSP00000508303.1:p.Leu1166=
ENST00000683235.1:c.*912T=	ENSP00000507646.1:n.*912T=
ENST00000683535.1:n.1627T=
ENST00000684584.1:c.2660T=	ENSP00000508044.1:p.Leu887=
ENST00000684626.1:n.1743T=
ENST00000684769.1:c.1687T=	ENSP00000507691.1:n.1687T=
ENST00000259008.7:c.3497T= MANE Select	ENSP00000259008.2:p.Leu1166=
ENST00000259008.6:c.3497T=	ENSP00000259008.2:p.Leu1166=
NM_032043.2:c.3497T= , LRG_300t1:c.3497T=	NP_114432.2:p.Leu1166=
XM_011525332.1:c.3557T=	XP_011523634.1:p.Leu1186=
XM_011525333.1:c.3557T=	XP_011523635.1:p.Leu1186=
XM_011525334.1:c.3557T=	XP_011523636.1:p.Leu1186=
XM_011525335.1:c.3497T=	XP_011523637.1:p.Leu1166=
XM_011525336.1:c.3437T=	XP_011523638.1:p.Leu1146=
XM_011525337.1:c.3356T=	XP_011523639.1:p.Leu1119=
XM_011525338.1:c.3074T=	XP_011523640.1:p.Leu1025=
XM_011525332.3:c.3557T=	XP_011523634.1:p.Leu1186=
XM_011525333.3:c.3557T=	XP_011523635.1:p.Leu1186=
XM_011525334.2:c.3557T=	XP_011523636.1:p.Leu1186=
XM_011525335.3:c.3497T=	XP_011523637.1:p.Leu1166=
XM_011525336.2:c.3437T=	XP_011523638.1:p.Leu1146=
XM_011525337.2:c.3356T=	XP_011523639.1:p.Leu1119=
XM_011525338.2:c.3074T=	XP_011523640.1:p.Leu1025=
XM_017025200.1:c.3014T=	XP_016880689.1:p.Leu1005=
XM_017025201.1:c.3014T=	XP_016880690.1:p.Leu1005=
XM_017025202.1:c.1643T=	XP_016880691.1:p.Leu548=
XM_017025203.1:c.1643T=	XP_016880692.1:p.Leu548=
NM_032043.3:c.3497T= MANE Select	NP_114432.2:p.Leu1166=