Canonical Allele Identifier: CA400478847

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144078140
• MyVariant Identifiers: chr17:g.59761024T>C (hg19) ; chr17:g.61683663T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683663T>C , CM000679.2:g.61683663T>C	GRCh38
NC_000017.10:g.59761024T>C , CM000679.1:g.59761024T>C	GRCh37
NC_000017.9:g.57115806T>C	NCBI36
NG_007409.2:g.184897A>G , LRG_300:g.184897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2123A>G
ENST00000682453.1:c.3383A>G	ENSP00000506943.1:p.Glu1128Gly
ENST00000682477.1:c.*2809A>G	ENSP00000507075.1:n.*2809A>G
ENST00000682589.1:n.9260A>G
ENST00000682755.1:c.3161A>G	ENSP00000507660.1:p.Glu1054Gly
ENST00000682989.1:c.*474A>G	ENSP00000507786.1:n.*474A>G
ENST00000683039.1:c.3383A>G	ENSP00000508303.1:p.Glu1128Gly
ENST00000683235.1:c.*798A>G	ENSP00000507646.1:n.*798A>G
ENST00000683535.1:n.1513A>G
ENST00000684584.1:c.2546A>G	ENSP00000508044.1:p.Glu849Gly
ENST00000684626.1:n.1629A>G
ENST00000684769.1:c.1573A>G	ENSP00000507691.1:n.1573A>G
ENST00000259008.7:c.3383A>G MANE Select	ENSP00000259008.2:p.Glu1128Gly
ENST00000259008.6:c.3383A>G	ENSP00000259008.2:p.Glu1128Gly
NM_032043.2:c.3383A>G , LRG_300t1:c.3383A>G	NP_114432.2:p.Glu1128Gly
XM_011525332.1:c.3443A>G	XP_011523634.1:p.Glu1148Gly
XM_011525333.1:c.3443A>G	XP_011523635.1:p.Glu1148Gly
XM_011525334.1:c.3443A>G	XP_011523636.1:p.Glu1148Gly
XM_011525335.1:c.3383A>G	XP_011523637.1:p.Glu1128Gly
XM_011525336.1:c.3323A>G	XP_011523638.1:p.Glu1108Gly
XM_011525337.1:c.3242A>G	XP_011523639.1:p.Glu1081Gly
XM_011525338.1:c.2960A>G	XP_011523640.1:p.Glu987Gly
XM_011525332.3:c.3443A>G	XP_011523634.1:p.Glu1148Gly
XM_011525333.3:c.3443A>G	XP_011523635.1:p.Glu1148Gly
XM_011525334.2:c.3443A>G	XP_011523636.1:p.Glu1148Gly
XM_011525335.3:c.3383A>G	XP_011523637.1:p.Glu1128Gly
XM_011525336.2:c.3323A>G	XP_011523638.1:p.Glu1108Gly
XM_011525337.2:c.3242A>G	XP_011523639.1:p.Glu1081Gly
XM_011525338.2:c.2960A>G	XP_011523640.1:p.Glu987Gly
XM_017025200.1:c.2900A>G	XP_016880689.1:p.Glu967Gly
XM_017025201.1:c.2900A>G	XP_016880690.1:p.Glu967Gly
XM_017025202.1:c.1529A>G	XP_016880691.1:p.Glu510Gly
XM_017025203.1:c.1529A>G	XP_016880692.1:p.Glu510Gly
NM_032043.3:c.3383A>G MANE Select	NP_114432.2:p.Glu1128Gly