Canonical Allele Identifier: CA400478805

Gene: BRIP1

Linked Data

• dbSNP Id: rs369340444
• gnomAD v4: 17-61683643-C-A
• MyVariant Identifiers: chr17:g.59761004C>A (hg19) ; chr17:g.61683643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683643C>A , CM000679.2:g.61683643C>A	GRCh38
NC_000017.10:g.59761004C>A , CM000679.1:g.59761004C>A	GRCh37
NC_000017.9:g.57115786C>A	NCBI36
NG_007409.2:g.184917G>T , LRG_300:g.184917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2143G>T
ENST00000682453.1:c.3403G>T	ENSP00000506943.1:p.Glu1135Ter
ENST00000682477.1:c.*2829G>T	ENSP00000507075.1:n.*2829G>T
ENST00000682589.1:n.9280G>T
ENST00000682755.1:c.3181G>T	ENSP00000507660.1:p.Glu1061Ter
ENST00000682989.1:c.*494G>T	ENSP00000507786.1:n.*494G>T
ENST00000683039.1:c.3403G>T	ENSP00000508303.1:p.Glu1135Ter
ENST00000683235.1:c.*818G>T	ENSP00000507646.1:n.*818G>T
ENST00000683535.1:n.1533G>T
ENST00000684584.1:c.2566G>T	ENSP00000508044.1:p.Glu856Ter
ENST00000684626.1:n.1649G>T
ENST00000684769.1:c.1593G>T	ENSP00000507691.1:n.1593G>T
ENST00000259008.7:c.3403G>T MANE Select	ENSP00000259008.2:p.Glu1135Ter
ENST00000259008.6:c.3403G>T	ENSP00000259008.2:p.Glu1135Ter
NM_032043.2:c.3403G>T , LRG_300t1:c.3403G>T	NP_114432.2:p.Glu1135Ter
XM_011525332.1:c.3463G>T	XP_011523634.1:p.Glu1155Ter
XM_011525333.1:c.3463G>T	XP_011523635.1:p.Glu1155Ter
XM_011525334.1:c.3463G>T	XP_011523636.1:p.Glu1155Ter
XM_011525335.1:c.3403G>T	XP_011523637.1:p.Glu1135Ter
XM_011525336.1:c.3343G>T	XP_011523638.1:p.Glu1115Ter
XM_011525337.1:c.3262G>T	XP_011523639.1:p.Glu1088Ter
XM_011525338.1:c.2980G>T	XP_011523640.1:p.Glu994Ter
XM_011525332.3:c.3463G>T	XP_011523634.1:p.Glu1155Ter
XM_011525333.3:c.3463G>T	XP_011523635.1:p.Glu1155Ter
XM_011525334.2:c.3463G>T	XP_011523636.1:p.Glu1155Ter
XM_011525335.3:c.3403G>T	XP_011523637.1:p.Glu1135Ter
XM_011525336.2:c.3343G>T	XP_011523638.1:p.Glu1115Ter
XM_011525337.2:c.3262G>T	XP_011523639.1:p.Glu1088Ter
XM_011525338.2:c.2980G>T	XP_011523640.1:p.Glu994Ter
XM_017025200.1:c.2920G>T	XP_016880689.1:p.Glu974Ter
XM_017025201.1:c.2920G>T	XP_016880690.1:p.Glu974Ter
XM_017025202.1:c.1549G>T	XP_016880691.1:p.Glu517Ter
XM_017025203.1:c.1549G>T	XP_016880692.1:p.Glu517Ter
NM_032043.3:c.3403G>T MANE Select	NP_114432.2:p.Glu1135Ter