Canonical Allele Identifier: CA400481375

Gene: BRIP1

Linked Data

• dbSNP Id: rs2061353270
• MyVariant Identifiers: chr17:g.59763263G>C (hg19) ; chr17:g.61685902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685902G>C , CM000679.2:g.61685902G>C	GRCh38
NC_000017.10:g.59763263G>C , CM000679.1:g.59763263G>C	GRCh37
NC_000017.9:g.57118045G>C	NCBI36
NG_007409.2:g.182658C>G , LRG_300:g.182658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2969C>G	ENSP00000507191.1:n.2969C>G
ENST00000682073.1:n.1579C>G
ENST00000682433.1:n.1918C>G
ENST00000682453.1:c.2839C>G	ENSP00000506943.1:p.Gln947Glu
ENST00000682477.1:c.*2265C>G	ENSP00000507075.1:n.*2265C>G
ENST00000682589.1:n.8716C>G
ENST00000682755.1:c.2617C>G	ENSP00000507660.1:p.Gln873Glu
ENST00000682989.1:c.2610-1762C>G	ENSP00000507786.1:n.2610-1762C>G
ENST00000683039.1:c.2839C>G	ENSP00000508303.1:p.Gln947Glu
ENST00000683235.1:c.*254C>G	ENSP00000507646.1:n.*254C>G
ENST00000683535.1:n.969C>G
ENST00000684471.1:n.1252C>G
ENST00000684584.1:c.2069-1762C>G	ENSP00000508044.1:n.2069-1762C>G
ENST00000684626.1:n.1085C>G
ENST00000684769.1:c.1029C>G	ENSP00000507691.1:n.1029C>G
ENST00000259008.7:c.2839C>G MANE Select	ENSP00000259008.2:p.Gln947Glu
ENST00000259008.6:c.2839C>G	ENSP00000259008.2:p.Gln947Glu
ENST00000577598.5:c.2839C>G	ENSP00000464654.1:p.Gln947Glu
NM_032043.2:c.2839C>G , LRG_300t1:c.2839C>G	NP_114432.2:p.Gln947Glu
XM_011525332.1:c.2899C>G	XP_011523634.1:p.Gln967Glu
XM_011525333.1:c.2899C>G	XP_011523635.1:p.Gln967Glu
XM_011525334.1:c.2899C>G	XP_011523636.1:p.Gln967Glu
XM_011525335.1:c.2839C>G	XP_011523637.1:p.Gln947Glu
XM_011525336.1:c.2779C>G	XP_011523638.1:p.Gln927Glu
XM_011525337.1:c.2698C>G	XP_011523639.1:p.Gln900Glu
XM_011525338.1:c.2416C>G	XP_011523640.1:p.Gln806Glu
XM_011525332.3:c.2899C>G	XP_011523634.1:p.Gln967Glu
XM_011525333.3:c.2899C>G	XP_011523635.1:p.Gln967Glu
XM_011525334.2:c.2899C>G	XP_011523636.1:p.Gln967Glu
XM_011525335.3:c.2839C>G	XP_011523637.1:p.Gln947Glu
XM_011525336.2:c.2779C>G	XP_011523638.1:p.Gln927Glu
XM_011525337.2:c.2698C>G	XP_011523639.1:p.Gln900Glu
XM_011525338.2:c.2416C>G	XP_011523640.1:p.Gln806Glu
XM_017025200.1:c.2356C>G	XP_016880689.1:p.Gln786Glu
XM_017025201.1:c.2356C>G	XP_016880690.1:p.Gln786Glu
XM_017025202.1:c.985C>G	XP_016880691.1:p.Gln329Glu
XM_017025203.1:c.985C>G	XP_016880692.1:p.Gln329Glu
NM_032043.3:c.2839C>G MANE Select	NP_114432.2:p.Gln947Glu