Canonical Allele Identifier: CA400479883

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1332080
• ClinVar RCV Id: RCV001804596 ; RCV001869520
• dbSNP Id: rs2144089594
• MyVariant Identifiers: chr17:g.59761342T>A (hg19) ; chr17:g.61683981T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683981T>A , CM000679.2:g.61683981T>A	GRCh38
NC_000017.10:g.59761342T>A , CM000679.1:g.59761342T>A	GRCh37
NC_000017.9:g.57116124T>A	NCBI36
NG_007409.2:g.184579A>T , LRG_300:g.184579A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1805A>T
ENST00000682453.1:c.3065A>T	ENSP00000506943.1:p.Glu1022Val
ENST00000682477.1:c.*2491A>T	ENSP00000507075.1:n.*2491A>T
ENST00000682589.1:n.8942A>T
ENST00000682755.1:c.2843A>T	ENSP00000507660.1:p.Glu948Val
ENST00000682989.1:c.*156A>T	ENSP00000507786.1:n.*156A>T
ENST00000683039.1:c.3065A>T	ENSP00000508303.1:p.Glu1022Val
ENST00000683235.1:c.*480A>T	ENSP00000507646.1:n.*480A>T
ENST00000683535.1:n.1195A>T
ENST00000684584.1:c.2228A>T	ENSP00000508044.1:p.Glu743Val
ENST00000684626.1:n.1311A>T
ENST00000684769.1:c.1255A>T	ENSP00000507691.1:n.1255A>T
ENST00000259008.7:c.3065A>T MANE Select	ENSP00000259008.2:p.Glu1022Val
ENST00000259008.6:c.3065A>T	ENSP00000259008.2:p.Glu1022Val
NM_032043.2:c.3065A>T , LRG_300t1:c.3065A>T	NP_114432.2:p.Glu1022Val
XM_011525332.1:c.3125A>T	XP_011523634.1:p.Glu1042Val
XM_011525333.1:c.3125A>T	XP_011523635.1:p.Glu1042Val
XM_011525334.1:c.3125A>T	XP_011523636.1:p.Glu1042Val
XM_011525335.1:c.3065A>T	XP_011523637.1:p.Glu1022Val
XM_011525336.1:c.3005A>T	XP_011523638.1:p.Glu1002Val
XM_011525337.1:c.2924A>T	XP_011523639.1:p.Glu975Val
XM_011525338.1:c.2642A>T	XP_011523640.1:p.Glu881Val
XM_011525332.3:c.3125A>T	XP_011523634.1:p.Glu1042Val
XM_011525333.3:c.3125A>T	XP_011523635.1:p.Glu1042Val
XM_011525334.2:c.3125A>T	XP_011523636.1:p.Glu1042Val
XM_011525335.3:c.3065A>T	XP_011523637.1:p.Glu1022Val
XM_011525336.2:c.3005A>T	XP_011523638.1:p.Glu1002Val
XM_011525337.2:c.2924A>T	XP_011523639.1:p.Glu975Val
XM_011525338.2:c.2642A>T	XP_011523640.1:p.Glu881Val
XM_017025200.1:c.2582A>T	XP_016880689.1:p.Glu861Val
XM_017025201.1:c.2582A>T	XP_016880690.1:p.Glu861Val
XM_017025202.1:c.1211A>T	XP_016880691.1:p.Glu404Val
XM_017025203.1:c.1211A>T	XP_016880692.1:p.Glu404Val
NM_032043.3:c.3065A>T MANE Select	NP_114432.2:p.Glu1022Val