Canonical Allele Identifier: CA288567

Gene: BRIP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686035T>C , CM000679.2:g.61686035T>C	GRCh38
NC_000017.10:g.59763396T>C , CM000679.1:g.59763396T>C	GRCh37
NC_000017.9:g.57118178T>C	NCBI36
NG_007409.2:g.182525A>G , LRG_300:g.182525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2836A>G	ENSP00000507191.1:n.2836A>G
ENST00000682073.1:n.1446A>G
ENST00000682433.1:n.1785A>G
ENST00000682453.1:c.2706A>G	ENSP00000506943.1:p.Ile902Met
ENST00000682477.1:c.*2132A>G	ENSP00000507075.1:n.*2132A>G
ENST00000682589.1:n.8583A>G
ENST00000682755.1:c.2484A>G	ENSP00000507660.1:p.Ile828Met
ENST00000682989.1:c.2610-1895A>G	ENSP00000507786.1:n.2610-1895A>G
ENST00000683039.1:c.2706A>G	ENSP00000508303.1:p.Ile902Met
ENST00000683235.1:c.*121A>G	ENSP00000507646.1:n.*121A>G
ENST00000683535.1:n.836A>G
ENST00000684471.1:n.1119A>G
ENST00000684584.1:c.2069-1895A>G	ENSP00000508044.1:n.2069-1895A>G
ENST00000684626.1:n.952A>G
ENST00000684769.1:c.896A>G	ENSP00000507691.1:n.896A>G
ENST00000259008.7:c.2706A>G MANE Select	ENSP00000259008.2:p.Ile902Met
ENST00000259008.6:c.2706A>G	ENSP00000259008.2:p.Ile902Met
ENST00000577598.5:c.2706A>G	ENSP00000464654.1:p.Ile902Met
NM_032043.2:c.2706A>G , LRG_300t1:c.2706A>G	NP_114432.2:p.Ile902Met
XM_011525332.1:c.2766A>G	XP_011523634.1:p.Ile922Met
XM_011525333.1:c.2766A>G	XP_011523635.1:p.Ile922Met
XM_011525334.1:c.2766A>G	XP_011523636.1:p.Ile922Met
XM_011525335.1:c.2706A>G	XP_011523637.1:p.Ile902Met
XM_011525336.1:c.2646A>G	XP_011523638.1:p.Ile882Met
XM_011525337.1:c.2565A>G	XP_011523639.1:p.Ile855Met
XM_011525338.1:c.2283A>G	XP_011523640.1:p.Ile761Met
XM_011525332.3:c.2766A>G	XP_011523634.1:p.Ile922Met
XM_011525333.3:c.2766A>G	XP_011523635.1:p.Ile922Met
XM_011525334.2:c.2766A>G	XP_011523636.1:p.Ile922Met
XM_011525335.3:c.2706A>G	XP_011523637.1:p.Ile902Met
XM_011525336.2:c.2646A>G	XP_011523638.1:p.Ile882Met
XM_011525337.2:c.2565A>G	XP_011523639.1:p.Ile855Met
XM_011525338.2:c.2283A>G	XP_011523640.1:p.Ile761Met
XM_017025200.1:c.2223A>G	XP_016880689.1:p.Ile741Met
XM_017025201.1:c.2223A>G	XP_016880690.1:p.Ile741Met
XM_017025202.1:c.852A>G	XP_016880691.1:p.Ile284Met
XM_017025203.1:c.852A>G	XP_016880692.1:p.Ile284Met
NM_032043.3:c.2706A>G MANE Select	NP_114432.2:p.Ile902Met