Canonical Allele Identifier: CA400478762

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461152
• ClinVar RCV Id: RCV000524593
• dbSNP Id: rs1034551306
• MyVariant Identifiers: chr17:g.59760985T>A (hg19) ; chr17:g.61683624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683624T>A , CM000679.2:g.61683624T>A	GRCh38
NC_000017.10:g.59760985T>A , CM000679.1:g.59760985T>A	GRCh37
NC_000017.9:g.57115767T>A	NCBI36
NG_007409.2:g.184936A>T , LRG_300:g.184936A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2162A>T
ENST00000682453.1:c.3422A>T	ENSP00000506943.1:p.Asp1141Val
ENST00000682477.1:c.*2848A>T	ENSP00000507075.1:n.*2848A>T
ENST00000682589.1:n.9299A>T
ENST00000682755.1:c.3200A>T	ENSP00000507660.1:p.Asp1067Val
ENST00000682989.1:c.*513A>T	ENSP00000507786.1:n.*513A>T
ENST00000683039.1:c.3422A>T	ENSP00000508303.1:p.Asp1141Val
ENST00000683235.1:c.*837A>T	ENSP00000507646.1:n.*837A>T
ENST00000683535.1:n.1552A>T
ENST00000684584.1:c.2585A>T	ENSP00000508044.1:p.Asp862Val
ENST00000684626.1:n.1668A>T
ENST00000684769.1:c.1612A>T	ENSP00000507691.1:n.1612A>T
ENST00000259008.7:c.3422A>T MANE Select	ENSP00000259008.2:p.Asp1141Val
ENST00000259008.6:c.3422A>T	ENSP00000259008.2:p.Asp1141Val
NM_032043.2:c.3422A>T , LRG_300t1:c.3422A>T	NP_114432.2:p.Asp1141Val
XM_011525332.1:c.3482A>T	XP_011523634.1:p.Asp1161Val
XM_011525333.1:c.3482A>T	XP_011523635.1:p.Asp1161Val
XM_011525334.1:c.3482A>T	XP_011523636.1:p.Asp1161Val
XM_011525335.1:c.3422A>T	XP_011523637.1:p.Asp1141Val
XM_011525336.1:c.3362A>T	XP_011523638.1:p.Asp1121Val
XM_011525337.1:c.3281A>T	XP_011523639.1:p.Asp1094Val
XM_011525338.1:c.2999A>T	XP_011523640.1:p.Asp1000Val
XM_011525332.3:c.3482A>T	XP_011523634.1:p.Asp1161Val
XM_011525333.3:c.3482A>T	XP_011523635.1:p.Asp1161Val
XM_011525334.2:c.3482A>T	XP_011523636.1:p.Asp1161Val
XM_011525335.3:c.3422A>T	XP_011523637.1:p.Asp1141Val
XM_011525336.2:c.3362A>T	XP_011523638.1:p.Asp1121Val
XM_011525337.2:c.3281A>T	XP_011523639.1:p.Asp1094Val
XM_011525338.2:c.2999A>T	XP_011523640.1:p.Asp1000Val
XM_017025200.1:c.2939A>T	XP_016880689.1:p.Asp980Val
XM_017025201.1:c.2939A>T	XP_016880690.1:p.Asp980Val
XM_017025202.1:c.1568A>T	XP_016880691.1:p.Asp523Val
XM_017025203.1:c.1568A>T	XP_016880692.1:p.Asp523Val
NM_032043.3:c.3422A>T MANE Select	NP_114432.2:p.Asp1141Val