Canonical Allele Identifier: CA501151086

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144676856
• MyVariant Identifiers: chr17:g.59820422A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743061A>T , CM000679.2:g.61743061A>T	GRCh38
NC_000017.10:g.59820422A>T , CM000679.1:g.59820422A>T	GRCh37
NC_000017.9:g.57175204A>T	NCBI36
NG_007409.2:g.125499T>A , LRG_300:g.125499T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2331T>A	ENSP00000463272.2:p.Arg777=
ENST00000682066.1:c.2461T>A	ENSP00000507191.1:n.2461T>A
ENST00000682073.1:n.1071T>A
ENST00000682433.1:n.1410T>A
ENST00000682453.1:c.2331T>A	ENSP00000506943.1:p.Arg777=
ENST00000682477.1:c.*1757T>A	ENSP00000507075.1:n.*1757T>A
ENST00000682589.1:n.8208T>A
ENST00000682755.1:c.2109T>A	ENSP00000507660.1:p.Arg703=
ENST00000682989.1:c.2331T>A	ENSP00000507786.1:p.Arg777=
ENST00000683039.1:c.2331T>A	ENSP00000508303.1:p.Arg777=
ENST00000683235.1:c.2331T>A	ENSP00000507646.1:p.Arg777=
ENST00000683381.1:c.2391T>A	ENSP00000508184.1:p.Arg797=
ENST00000683535.1:n.461T>A
ENST00000684471.1:n.744T>A
ENST00000684584.1:c.1824T>A	ENSP00000508044.1:p.Arg608=
ENST00000684769.1:c.396T>A	ENSP00000507691.1:p.Arg132=
ENST00000259008.7:c.2331T>A MANE Select	ENSP00000259008.2:p.Arg777=
ENST00000259008.6:c.2331T>A	ENSP00000259008.2:p.Arg777=
ENST00000577598.5:c.2331T>A	ENSP00000464654.1:p.Arg777=
ENST00000584322.1:c.314T>A
NM_032043.2:c.2331T>A , LRG_300t1:c.2331T>A	NP_114432.2:p.Arg777=
XM_011525332.1:c.2391T>A	XP_011523634.1:p.Arg797=
XM_011525333.1:c.2391T>A	XP_011523635.1:p.Arg797=
XM_011525334.1:c.2391T>A	XP_011523636.1:p.Arg797=
XM_011525335.1:c.2331T>A	XP_011523637.1:p.Arg777=
XM_011525336.1:c.2271T>A	XP_011523638.1:p.Arg757=
XM_011525337.1:c.2190T>A	XP_011523639.1:p.Arg730=
XM_011525338.1:c.1908T>A	XP_011523640.1:p.Arg636=
XM_011525339.1:c.2391T>A	XP_011523641.1:p.Arg797=
XM_011525340.1:c.2391T>A	XP_011523642.1:p.Arg797=
XR_934894.1:n.524-1120A>T
XM_011525332.3:c.2391T>A	XP_011523634.1:p.Arg797=
XM_011525333.3:c.2391T>A	XP_011523635.1:p.Arg797=
XM_011525334.2:c.2391T>A	XP_011523636.1:p.Arg797=
XM_011525335.3:c.2331T>A	XP_011523637.1:p.Arg777=
XM_011525336.2:c.2271T>A	XP_011523638.1:p.Arg757=
XM_011525337.2:c.2190T>A	XP_011523639.1:p.Arg730=
XM_011525338.2:c.1908T>A	XP_011523640.1:p.Arg636=
XM_011525339.3:c.2391T>A	XP_011523641.1:p.Arg797=
XM_011525340.3:c.2391T>A	XP_011523642.1:p.Arg797=
XM_017025200.1:c.1848T>A	XP_016880689.1:p.Arg616=
XM_017025201.1:c.1848T>A	XP_016880690.1:p.Arg616=
XM_017025202.1:c.477T>A	XP_016880691.1:p.Arg159=
XM_017025203.1:c.477T>A	XP_016880692.1:p.Arg159=
NM_032043.3:c.2331T>A MANE Select	NP_114432.2:p.Arg777=