Canonical Allele Identifier: CA2269130906

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683648G= , CM000679.2:g.61683648G=	GRCh38
NC_000017.10:g.59761009G= , CM000679.1:g.59761009G=	GRCh37
NC_000017.9:g.57115791G=	NCBI36
NG_007409.2:g.184912C= , LRG_300:g.184912C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2138C=
ENST00000682453.1:c.3398C=	ENSP00000506943.1:p.Thr1133=
ENST00000682477.1:c.*2824C=	ENSP00000507075.1:n.*2824C=
ENST00000682589.1:n.9275C=
ENST00000682755.1:c.3176C=	ENSP00000507660.1:p.Thr1059=
ENST00000682989.1:c.*489C=	ENSP00000507786.1:n.*489C=
ENST00000683039.1:c.3398C=	ENSP00000508303.1:p.Thr1133=
ENST00000683235.1:c.*813C=	ENSP00000507646.1:n.*813C=
ENST00000683535.1:n.1528C=
ENST00000684584.1:c.2561C=	ENSP00000508044.1:p.Thr854=
ENST00000684626.1:n.1644C=
ENST00000684769.1:c.1588C=	ENSP00000507691.1:n.1588C=
ENST00000259008.7:c.3398C= MANE Select	ENSP00000259008.2:p.Thr1133=
ENST00000259008.6:c.3398C=	ENSP00000259008.2:p.Thr1133=
NM_032043.2:c.3398C= , LRG_300t1:c.3398C=	NP_114432.2:p.Thr1133=
XM_011525332.1:c.3458C=	XP_011523634.1:p.Thr1153=
XM_011525333.1:c.3458C=	XP_011523635.1:p.Thr1153=
XM_011525334.1:c.3458C=	XP_011523636.1:p.Thr1153=
XM_011525335.1:c.3398C=	XP_011523637.1:p.Thr1133=
XM_011525336.1:c.3338C=	XP_011523638.1:p.Thr1113=
XM_011525337.1:c.3257C=	XP_011523639.1:p.Thr1086=
XM_011525338.1:c.2975C=	XP_011523640.1:p.Thr992=
XM_011525332.3:c.3458C=	XP_011523634.1:p.Thr1153=
XM_011525333.3:c.3458C=	XP_011523635.1:p.Thr1153=
XM_011525334.2:c.3458C=	XP_011523636.1:p.Thr1153=
XM_011525335.3:c.3398C=	XP_011523637.1:p.Thr1133=
XM_011525336.2:c.3338C=	XP_011523638.1:p.Thr1113=
XM_011525337.2:c.3257C=	XP_011523639.1:p.Thr1086=
XM_011525338.2:c.2975C=	XP_011523640.1:p.Thr992=
XM_017025200.1:c.2915C=	XP_016880689.1:p.Thr972=
XM_017025201.1:c.2915C=	XP_016880690.1:p.Thr972=
XM_017025202.1:c.1544C=	XP_016880691.1:p.Thr515=
XM_017025203.1:c.1544C=	XP_016880692.1:p.Thr515=
NM_032043.3:c.3398C= MANE Select	NP_114432.2:p.Thr1133=