Canonical Allele Identifier: CA400479094

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144082312
• MyVariant Identifiers: chr17:g.59761139C>T (hg19) ; chr17:g.61683778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683778C>T , CM000679.2:g.61683778C>T	GRCh38
NC_000017.10:g.59761139C>T , CM000679.1:g.59761139C>T	GRCh37
NC_000017.9:g.57115921C>T	NCBI36
NG_007409.2:g.184782G>A , LRG_300:g.184782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2008G>A
ENST00000682453.1:c.3268G>A	ENSP00000506943.1:p.Glu1090Lys
ENST00000682477.1:c.*2694G>A	ENSP00000507075.1:n.*2694G>A
ENST00000682589.1:n.9145G>A
ENST00000682755.1:c.3046G>A	ENSP00000507660.1:p.Glu1016Lys
ENST00000682989.1:c.*359G>A	ENSP00000507786.1:n.*359G>A
ENST00000683039.1:c.3268G>A	ENSP00000508303.1:p.Glu1090Lys
ENST00000683235.1:c.*683G>A	ENSP00000507646.1:n.*683G>A
ENST00000683535.1:n.1398G>A
ENST00000684584.1:c.2431G>A	ENSP00000508044.1:p.Glu811Lys
ENST00000684626.1:n.1514G>A
ENST00000684769.1:c.1458G>A	ENSP00000507691.1:n.1458G>A
ENST00000259008.7:c.3268G>A MANE Select	ENSP00000259008.2:p.Glu1090Lys
ENST00000259008.6:c.3268G>A	ENSP00000259008.2:p.Glu1090Lys
NM_032043.2:c.3268G>A , LRG_300t1:c.3268G>A	NP_114432.2:p.Glu1090Lys
XM_011525332.1:c.3328G>A	XP_011523634.1:p.Glu1110Lys
XM_011525333.1:c.3328G>A	XP_011523635.1:p.Glu1110Lys
XM_011525334.1:c.3328G>A	XP_011523636.1:p.Glu1110Lys
XM_011525335.1:c.3268G>A	XP_011523637.1:p.Glu1090Lys
XM_011525336.1:c.3208G>A	XP_011523638.1:p.Glu1070Lys
XM_011525337.1:c.3127G>A	XP_011523639.1:p.Glu1043Lys
XM_011525338.1:c.2845G>A	XP_011523640.1:p.Glu949Lys
XM_011525332.3:c.3328G>A	XP_011523634.1:p.Glu1110Lys
XM_011525333.3:c.3328G>A	XP_011523635.1:p.Glu1110Lys
XM_011525334.2:c.3328G>A	XP_011523636.1:p.Glu1110Lys
XM_011525335.3:c.3268G>A	XP_011523637.1:p.Glu1090Lys
XM_011525336.2:c.3208G>A	XP_011523638.1:p.Glu1070Lys
XM_011525337.2:c.3127G>A	XP_011523639.1:p.Glu1043Lys
XM_011525338.2:c.2845G>A	XP_011523640.1:p.Glu949Lys
XM_017025200.1:c.2785G>A	XP_016880689.1:p.Glu929Lys
XM_017025201.1:c.2785G>A	XP_016880690.1:p.Glu929Lys
XM_017025202.1:c.1414G>A	XP_016880691.1:p.Glu472Lys
XM_017025203.1:c.1414G>A	XP_016880692.1:p.Glu472Lys
NM_032043.3:c.3268G>A MANE Select	NP_114432.2:p.Glu1090Lys