Canonical Allele Identifier: CA2269130925

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683686A= , CM000679.2:g.61683686A=	GRCh38
NC_000017.10:g.59761047A= , CM000679.1:g.59761047A=	GRCh37
NC_000017.9:g.57115829A=	NCBI36
NG_007409.2:g.184874T= , LRG_300:g.184874T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2100T=
ENST00000682453.1:c.3360T=	ENSP00000506943.1:p.Asp1120=
ENST00000682477.1:c.*2786T=	ENSP00000507075.1:n.*2786T=
ENST00000682589.1:n.9237T=
ENST00000682755.1:c.3138T=	ENSP00000507660.1:p.Asp1046=
ENST00000682989.1:c.*451T=	ENSP00000507786.1:n.*451T=
ENST00000683039.1:c.3360T=	ENSP00000508303.1:p.Asp1120=
ENST00000683235.1:c.*775T=	ENSP00000507646.1:n.*775T=
ENST00000683535.1:n.1490T=
ENST00000684584.1:c.2523T=	ENSP00000508044.1:p.Asp841=
ENST00000684626.1:n.1606T=
ENST00000684769.1:c.1550T=	ENSP00000507691.1:n.1550T=
ENST00000259008.7:c.3360T= MANE Select	ENSP00000259008.2:p.Asp1120=
ENST00000259008.6:c.3360T=	ENSP00000259008.2:p.Asp1120=
NM_032043.2:c.3360T= , LRG_300t1:c.3360T=	NP_114432.2:p.Asp1120=
XM_011525332.1:c.3420T=	XP_011523634.1:p.Asp1140=
XM_011525333.1:c.3420T=	XP_011523635.1:p.Asp1140=
XM_011525334.1:c.3420T=	XP_011523636.1:p.Asp1140=
XM_011525335.1:c.3360T=	XP_011523637.1:p.Asp1120=
XM_011525336.1:c.3300T=	XP_011523638.1:p.Asp1100=
XM_011525337.1:c.3219T=	XP_011523639.1:p.Asp1073=
XM_011525338.1:c.2937T=	XP_011523640.1:p.Asp979=
XM_011525332.3:c.3420T=	XP_011523634.1:p.Asp1140=
XM_011525333.3:c.3420T=	XP_011523635.1:p.Asp1140=
XM_011525334.2:c.3420T=	XP_011523636.1:p.Asp1140=
XM_011525335.3:c.3360T=	XP_011523637.1:p.Asp1120=
XM_011525336.2:c.3300T=	XP_011523638.1:p.Asp1100=
XM_011525337.2:c.3219T=	XP_011523639.1:p.Asp1073=
XM_011525338.2:c.2937T=	XP_011523640.1:p.Asp979=
XM_017025200.1:c.2877T=	XP_016880689.1:p.Asp959=
XM_017025201.1:c.2877T=	XP_016880690.1:p.Asp959=
XM_017025202.1:c.1506T=	XP_016880691.1:p.Asp502=
XM_017025203.1:c.1506T=	XP_016880692.1:p.Asp502=
NM_032043.3:c.3360T= MANE Select	NP_114432.2:p.Asp1120=