Canonical Allele Identifier: CA2269130899

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683640G= , CM000679.2:g.61683640G=	GRCh38
NC_000017.10:g.59761001G= , CM000679.1:g.59761001G=	GRCh37
NC_000017.9:g.57115783G=	NCBI36
NG_007409.2:g.184920C= , LRG_300:g.184920C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2146C=
ENST00000682453.1:c.3406C=	ENSP00000506943.1:p.Leu1136=
ENST00000682477.1:c.*2832C=	ENSP00000507075.1:n.*2832C=
ENST00000682589.1:n.9283C=
ENST00000682755.1:c.3184C=	ENSP00000507660.1:p.Leu1062=
ENST00000682989.1:c.*497C=	ENSP00000507786.1:n.*497C=
ENST00000683039.1:c.3406C=	ENSP00000508303.1:p.Leu1136=
ENST00000683235.1:c.*821C=	ENSP00000507646.1:n.*821C=
ENST00000683535.1:n.1536C=
ENST00000684584.1:c.2569C=	ENSP00000508044.1:p.Leu857=
ENST00000684626.1:n.1652C=
ENST00000684769.1:c.1596C=	ENSP00000507691.1:n.1596C=
ENST00000259008.7:c.3406C= MANE Select	ENSP00000259008.2:p.Leu1136=
ENST00000259008.6:c.3406C=	ENSP00000259008.2:p.Leu1136=
NM_032043.2:c.3406C= , LRG_300t1:c.3406C=	NP_114432.2:p.Leu1136=
XM_011525332.1:c.3466C=	XP_011523634.1:p.Leu1156=
XM_011525333.1:c.3466C=	XP_011523635.1:p.Leu1156=
XM_011525334.1:c.3466C=	XP_011523636.1:p.Leu1156=
XM_011525335.1:c.3406C=	XP_011523637.1:p.Leu1136=
XM_011525336.1:c.3346C=	XP_011523638.1:p.Leu1116=
XM_011525337.1:c.3265C=	XP_011523639.1:p.Leu1089=
XM_011525338.1:c.2983C=	XP_011523640.1:p.Leu995=
XM_011525332.3:c.3466C=	XP_011523634.1:p.Leu1156=
XM_011525333.3:c.3466C=	XP_011523635.1:p.Leu1156=
XM_011525334.2:c.3466C=	XP_011523636.1:p.Leu1156=
XM_011525335.3:c.3406C=	XP_011523637.1:p.Leu1136=
XM_011525336.2:c.3346C=	XP_011523638.1:p.Leu1116=
XM_011525337.2:c.3265C=	XP_011523639.1:p.Leu1089=
XM_011525338.2:c.2983C=	XP_011523640.1:p.Leu995=
XM_017025200.1:c.2923C=	XP_016880689.1:p.Leu975=
XM_017025201.1:c.2923C=	XP_016880690.1:p.Leu975=
XM_017025202.1:c.1552C=	XP_016880691.1:p.Leu518=
XM_017025203.1:c.1552C=	XP_016880692.1:p.Leu518=
NM_032043.3:c.3406C= MANE Select	NP_114432.2:p.Leu1136=