Canonical Allele Identifier: CA2269130857

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683573A= , CM000679.2:g.61683573A=	GRCh38
NC_000017.10:g.59760934A= , CM000679.1:g.59760934A=	GRCh37
NC_000017.9:g.57115716A=	NCBI36
NG_007409.2:g.184987T= , LRG_300:g.184987T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2213T=
ENST00000682453.1:c.3473T=	ENSP00000506943.1:p.Leu1158=
ENST00000682477.1:c.*2899T=	ENSP00000507075.1:n.*2899T=
ENST00000682589.1:n.9350T=
ENST00000682755.1:c.3251T=	ENSP00000507660.1:p.Leu1084=
ENST00000682989.1:c.*564T=	ENSP00000507786.1:n.*564T=
ENST00000683039.1:c.3473T=	ENSP00000508303.1:p.Leu1158=
ENST00000683235.1:c.*888T=	ENSP00000507646.1:n.*888T=
ENST00000683535.1:n.1603T=
ENST00000684584.1:c.2636T=	ENSP00000508044.1:p.Leu879=
ENST00000684626.1:n.1719T=
ENST00000684769.1:c.1663T=	ENSP00000507691.1:n.1663T=
ENST00000259008.7:c.3473T= MANE Select	ENSP00000259008.2:p.Leu1158=
ENST00000259008.6:c.3473T=	ENSP00000259008.2:p.Leu1158=
NM_032043.2:c.3473T= , LRG_300t1:c.3473T=	NP_114432.2:p.Leu1158=
XM_011525332.1:c.3533T=	XP_011523634.1:p.Leu1178=
XM_011525333.1:c.3533T=	XP_011523635.1:p.Leu1178=
XM_011525334.1:c.3533T=	XP_011523636.1:p.Leu1178=
XM_011525335.1:c.3473T=	XP_011523637.1:p.Leu1158=
XM_011525336.1:c.3413T=	XP_011523638.1:p.Leu1138=
XM_011525337.1:c.3332T=	XP_011523639.1:p.Leu1111=
XM_011525338.1:c.3050T=	XP_011523640.1:p.Leu1017=
XM_011525332.3:c.3533T=	XP_011523634.1:p.Leu1178=
XM_011525333.3:c.3533T=	XP_011523635.1:p.Leu1178=
XM_011525334.2:c.3533T=	XP_011523636.1:p.Leu1178=
XM_011525335.3:c.3473T=	XP_011523637.1:p.Leu1158=
XM_011525336.2:c.3413T=	XP_011523638.1:p.Leu1138=
XM_011525337.2:c.3332T=	XP_011523639.1:p.Leu1111=
XM_011525338.2:c.3050T=	XP_011523640.1:p.Leu1017=
XM_017025200.1:c.2990T=	XP_016880689.1:p.Leu997=
XM_017025201.1:c.2990T=	XP_016880690.1:p.Leu997=
XM_017025202.1:c.1619T=	XP_016880691.1:p.Leu540=
XM_017025203.1:c.1619T=	XP_016880692.1:p.Leu540=
NM_032043.3:c.3473T= MANE Select	NP_114432.2:p.Leu1158=