Canonical Allele Identifier: CA2269130893

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683633T= , CM000679.2:g.61683633T=	GRCh38
NC_000017.10:g.59760994T= , CM000679.1:g.59760994T=	GRCh37
NC_000017.9:g.57115776T=	NCBI36
NG_007409.2:g.184927A= , LRG_300:g.184927A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2153A=
ENST00000682453.1:c.3413A=	ENSP00000506943.1:p.Asp1138=
ENST00000682477.1:c.*2839A=	ENSP00000507075.1:n.*2839A=
ENST00000682589.1:n.9290A=
ENST00000682755.1:c.3191A=	ENSP00000507660.1:p.Asp1064=
ENST00000682989.1:c.*504A=	ENSP00000507786.1:n.*504A=
ENST00000683039.1:c.3413A=	ENSP00000508303.1:p.Asp1138=
ENST00000683235.1:c.*828A=	ENSP00000507646.1:n.*828A=
ENST00000683535.1:n.1543A=
ENST00000684584.1:c.2576A=	ENSP00000508044.1:p.Asp859=
ENST00000684626.1:n.1659A=
ENST00000684769.1:c.1603A=	ENSP00000507691.1:n.1603A=
ENST00000259008.7:c.3413A= MANE Select	ENSP00000259008.2:p.Asp1138=
ENST00000259008.6:c.3413A=	ENSP00000259008.2:p.Asp1138=
NM_032043.2:c.3413A= , LRG_300t1:c.3413A=	NP_114432.2:p.Asp1138=
XM_011525332.1:c.3473A=	XP_011523634.1:p.Asp1158=
XM_011525333.1:c.3473A=	XP_011523635.1:p.Asp1158=
XM_011525334.1:c.3473A=	XP_011523636.1:p.Asp1158=
XM_011525335.1:c.3413A=	XP_011523637.1:p.Asp1138=
XM_011525336.1:c.3353A=	XP_011523638.1:p.Asp1118=
XM_011525337.1:c.3272A=	XP_011523639.1:p.Asp1091=
XM_011525338.1:c.2990A=	XP_011523640.1:p.Asp997=
XM_011525332.3:c.3473A=	XP_011523634.1:p.Asp1158=
XM_011525333.3:c.3473A=	XP_011523635.1:p.Asp1158=
XM_011525334.2:c.3473A=	XP_011523636.1:p.Asp1158=
XM_011525335.3:c.3413A=	XP_011523637.1:p.Asp1138=
XM_011525336.2:c.3353A=	XP_011523638.1:p.Asp1118=
XM_011525337.2:c.3272A=	XP_011523639.1:p.Asp1091=
XM_011525338.2:c.2990A=	XP_011523640.1:p.Asp997=
XM_017025200.1:c.2930A=	XP_016880689.1:p.Asp977=
XM_017025201.1:c.2930A=	XP_016880690.1:p.Asp977=
XM_017025202.1:c.1559A=	XP_016880691.1:p.Asp520=
XM_017025203.1:c.1559A=	XP_016880692.1:p.Asp520=
NM_032043.3:c.3413A= MANE Select	NP_114432.2:p.Asp1138=