Canonical Allele Identifier: CA400478965

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1055460
• ClinVar RCV Id: RCV001364132 ; RCV003169829
• dbSNP Id: rs587780248
• MyVariant Identifiers: chr17:g.59761076C>T (hg19) ; chr17:g.61683715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683715C>T , CM000679.2:g.61683715C>T	GRCh38
NC_000017.10:g.59761076C>T , CM000679.1:g.59761076C>T	GRCh37
NC_000017.9:g.57115858C>T	NCBI36
NG_007409.2:g.184845G>A , LRG_300:g.184845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2071G>A
ENST00000682453.1:c.3331G>A	ENSP00000506943.1:p.Glu1111Lys
ENST00000682477.1:c.*2757G>A	ENSP00000507075.1:n.*2757G>A
ENST00000682589.1:n.9208G>A
ENST00000682755.1:c.3109G>A	ENSP00000507660.1:p.Glu1037Lys
ENST00000682989.1:c.*422G>A	ENSP00000507786.1:n.*422G>A
ENST00000683039.1:c.3331G>A	ENSP00000508303.1:p.Glu1111Lys
ENST00000683235.1:c.*746G>A	ENSP00000507646.1:n.*746G>A
ENST00000683535.1:n.1461G>A
ENST00000684584.1:c.2494G>A	ENSP00000508044.1:p.Glu832Lys
ENST00000684626.1:n.1577G>A
ENST00000684769.1:c.1521G>A	ENSP00000507691.1:n.1521G>A
ENST00000259008.7:c.3331G>A MANE Select	ENSP00000259008.2:p.Glu1111Lys
ENST00000259008.6:c.3331G>A	ENSP00000259008.2:p.Glu1111Lys
NM_032043.2:c.3331G>A , LRG_300t1:c.3331G>A	NP_114432.2:p.Glu1111Lys
XM_011525332.1:c.3391G>A	XP_011523634.1:p.Glu1131Lys
XM_011525333.1:c.3391G>A	XP_011523635.1:p.Glu1131Lys
XM_011525334.1:c.3391G>A	XP_011523636.1:p.Glu1131Lys
XM_011525335.1:c.3331G>A	XP_011523637.1:p.Glu1111Lys
XM_011525336.1:c.3271G>A	XP_011523638.1:p.Glu1091Lys
XM_011525337.1:c.3190G>A	XP_011523639.1:p.Glu1064Lys
XM_011525338.1:c.2908G>A	XP_011523640.1:p.Glu970Lys
XM_011525332.3:c.3391G>A	XP_011523634.1:p.Glu1131Lys
XM_011525333.3:c.3391G>A	XP_011523635.1:p.Glu1131Lys
XM_011525334.2:c.3391G>A	XP_011523636.1:p.Glu1131Lys
XM_011525335.3:c.3331G>A	XP_011523637.1:p.Glu1111Lys
XM_011525336.2:c.3271G>A	XP_011523638.1:p.Glu1091Lys
XM_011525337.2:c.3190G>A	XP_011523639.1:p.Glu1064Lys
XM_011525338.2:c.2908G>A	XP_011523640.1:p.Glu970Lys
XM_017025200.1:c.2848G>A	XP_016880689.1:p.Glu950Lys
XM_017025201.1:c.2848G>A	XP_016880690.1:p.Glu950Lys
XM_017025202.1:c.1477G>A	XP_016880691.1:p.Glu493Lys
XM_017025203.1:c.1477G>A	XP_016880692.1:p.Glu493Lys
NM_032043.3:c.3331G>A MANE Select	NP_114432.2:p.Glu1111Lys