Canonical Allele Identifier: CA400478876

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144078588
• MyVariant Identifiers: chr17:g.59761037C>T (hg19) ; chr17:g.61683676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683676C>T , CM000679.2:g.61683676C>T	GRCh38
NC_000017.10:g.59761037C>T , CM000679.1:g.59761037C>T	GRCh37
NC_000017.9:g.57115819C>T	NCBI36
NG_007409.2:g.184884G>A , LRG_300:g.184884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2110G>A
ENST00000682453.1:c.3370G>A	ENSP00000506943.1:p.Glu1124Lys
ENST00000682477.1:c.*2796G>A	ENSP00000507075.1:n.*2796G>A
ENST00000682589.1:n.9247G>A
ENST00000682755.1:c.3148G>A	ENSP00000507660.1:p.Glu1050Lys
ENST00000682989.1:c.*461G>A	ENSP00000507786.1:n.*461G>A
ENST00000683039.1:c.3370G>A	ENSP00000508303.1:p.Glu1124Lys
ENST00000683235.1:c.*785G>A	ENSP00000507646.1:n.*785G>A
ENST00000683535.1:n.1500G>A
ENST00000684584.1:c.2533G>A	ENSP00000508044.1:p.Glu845Lys
ENST00000684626.1:n.1616G>A
ENST00000684769.1:c.1560G>A	ENSP00000507691.1:n.1560G>A
ENST00000259008.7:c.3370G>A MANE Select	ENSP00000259008.2:p.Glu1124Lys
ENST00000259008.6:c.3370G>A	ENSP00000259008.2:p.Glu1124Lys
NM_032043.2:c.3370G>A , LRG_300t1:c.3370G>A	NP_114432.2:p.Glu1124Lys
XM_011525332.1:c.3430G>A	XP_011523634.1:p.Glu1144Lys
XM_011525333.1:c.3430G>A	XP_011523635.1:p.Glu1144Lys
XM_011525334.1:c.3430G>A	XP_011523636.1:p.Glu1144Lys
XM_011525335.1:c.3370G>A	XP_011523637.1:p.Glu1124Lys
XM_011525336.1:c.3310G>A	XP_011523638.1:p.Glu1104Lys
XM_011525337.1:c.3229G>A	XP_011523639.1:p.Glu1077Lys
XM_011525338.1:c.2947G>A	XP_011523640.1:p.Glu983Lys
XM_011525332.3:c.3430G>A	XP_011523634.1:p.Glu1144Lys
XM_011525333.3:c.3430G>A	XP_011523635.1:p.Glu1144Lys
XM_011525334.2:c.3430G>A	XP_011523636.1:p.Glu1144Lys
XM_011525335.3:c.3370G>A	XP_011523637.1:p.Glu1124Lys
XM_011525336.2:c.3310G>A	XP_011523638.1:p.Glu1104Lys
XM_011525337.2:c.3229G>A	XP_011523639.1:p.Glu1077Lys
XM_011525338.2:c.2947G>A	XP_011523640.1:p.Glu983Lys
XM_017025200.1:c.2887G>A	XP_016880689.1:p.Glu963Lys
XM_017025201.1:c.2887G>A	XP_016880690.1:p.Glu963Lys
XM_017025202.1:c.1516G>A	XP_016880691.1:p.Glu506Lys
XM_017025203.1:c.1516G>A	XP_016880692.1:p.Glu506Lys
NM_032043.3:c.3370G>A MANE Select	NP_114432.2:p.Glu1124Lys