Canonical Allele Identifier: CA400478308

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760857C>T (hg19) ; chr17:g.61683496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683496C>T , CM000679.2:g.61683496C>T	GRCh38
NC_000017.10:g.59760857C>T , CM000679.1:g.59760857C>T	GRCh37
NC_000017.9:g.57115639C>T	NCBI36
NG_007409.2:g.185064G>A , LRG_300:g.185064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2290G>A
ENST00000682453.1:c.3550G>A	ENSP00000506943.1:p.Glu1184Lys
ENST00000682477.1:c.*2976G>A	ENSP00000507075.1:n.*2976G>A
ENST00000682589.1:n.9427G>A
ENST00000682755.1:c.3328G>A	ENSP00000507660.1:p.Glu1110Lys
ENST00000682989.1:c.*641G>A	ENSP00000507786.1:n.*641G>A
ENST00000683039.1:c.3550G>A	ENSP00000508303.1:p.Glu1184Lys
ENST00000683235.1:c.*965G>A	ENSP00000507646.1:n.*965G>A
ENST00000683535.1:n.1680G>A
ENST00000684584.1:c.2713G>A	ENSP00000508044.1:p.Glu905Lys
ENST00000684626.1:n.1796G>A
ENST00000684769.1:c.1740G>A	ENSP00000507691.1:n.1740G>A
ENST00000259008.7:c.3550G>A MANE Select	ENSP00000259008.2:p.Glu1184Lys
ENST00000259008.6:c.3550G>A	ENSP00000259008.2:p.Glu1184Lys
NM_032043.2:c.3550G>A , LRG_300t1:c.3550G>A	NP_114432.2:p.Glu1184Lys
XM_011525332.1:c.3610G>A	XP_011523634.1:p.Glu1204Lys
XM_011525333.1:c.3610G>A	XP_011523635.1:p.Glu1204Lys
XM_011525334.1:c.3610G>A	XP_011523636.1:p.Glu1204Lys
XM_011525335.1:c.3550G>A	XP_011523637.1:p.Glu1184Lys
XM_011525336.1:c.3490G>A	XP_011523638.1:p.Glu1164Lys
XM_011525337.1:c.3409G>A	XP_011523639.1:p.Glu1137Lys
XM_011525338.1:c.3127G>A	XP_011523640.1:p.Glu1043Lys
XM_011525332.3:c.3610G>A	XP_011523634.1:p.Glu1204Lys
XM_011525333.3:c.3610G>A	XP_011523635.1:p.Glu1204Lys
XM_011525334.2:c.3610G>A	XP_011523636.1:p.Glu1204Lys
XM_011525335.3:c.3550G>A	XP_011523637.1:p.Glu1184Lys
XM_011525336.2:c.3490G>A	XP_011523638.1:p.Glu1164Lys
XM_011525337.2:c.3409G>A	XP_011523639.1:p.Glu1137Lys
XM_011525338.2:c.3127G>A	XP_011523640.1:p.Glu1043Lys
XM_017025200.1:c.3067G>A	XP_016880689.1:p.Glu1023Lys
XM_017025201.1:c.3067G>A	XP_016880690.1:p.Glu1023Lys
XM_017025202.1:c.1696G>A	XP_016880691.1:p.Glu566Lys
XM_017025203.1:c.1696G>A	XP_016880692.1:p.Glu566Lys
NM_032043.3:c.3550G>A MANE Select	NP_114432.2:p.Glu1184Lys