Canonical Allele Identifier: CA400479390

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2626386
• ClinVar RCV Id: RCV003382366
• MyVariant Identifiers: chr17:g.59793315C>T (hg19) ; chr17:g.61715954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715954C>T , CM000679.2:g.61715954C>T	GRCh38
NC_000017.10:g.59793315C>T , CM000679.1:g.59793315C>T	GRCh37
NC_000017.9:g.57148097C>T	NCBI36
NG_007409.2:g.152606G>A , LRG_300:g.152606G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2619G>A	ENSP00000507191.1:n.2619G>A
ENST00000682073.1:n.1229G>A
ENST00000682433.1:n.1568G>A
ENST00000682453.1:c.2489G>A	ENSP00000506943.1:p.Gly830Asp
ENST00000682477.1:c.*1915G>A	ENSP00000507075.1:n.*1915G>A
ENST00000682589.1:n.8366G>A
ENST00000682755.1:c.2267G>A	ENSP00000507660.1:p.Gly756Asp
ENST00000682989.1:c.2489G>A	ENSP00000507786.1:p.Gly830Asp
ENST00000683039.1:c.2489G>A	ENSP00000508303.1:p.Gly830Asp
ENST00000683235.1:c.2489G>A	ENSP00000507646.1:p.Gly830Asp
ENST00000683535.1:n.619G>A
ENST00000684471.1:n.902G>A
ENST00000684584.1:c.1982G>A	ENSP00000508044.1:p.Gly661Asp
ENST00000684626.1:n.818G>A
ENST00000684769.1:c.554G>A	ENSP00000507691.1:p.Gly185Asp
ENST00000259008.7:c.2489G>A MANE Select	ENSP00000259008.2:p.Gly830Asp
ENST00000259008.6:c.2489G>A	ENSP00000259008.2:p.Gly830Asp
ENST00000577598.5:c.2489G>A	ENSP00000464654.1:p.Gly830Asp
NM_032043.2:c.2489G>A , LRG_300t1:c.2489G>A	NP_114432.2:p.Gly830Asp
XM_011525332.1:c.2549G>A	XP_011523634.1:p.Gly850Asp
XM_011525333.1:c.2549G>A	XP_011523635.1:p.Gly850Asp
XM_011525334.1:c.2549G>A	XP_011523636.1:p.Gly850Asp
XM_011525335.1:c.2489G>A	XP_011523637.1:p.Gly830Asp
XM_011525336.1:c.2429G>A	XP_011523638.1:p.Gly810Asp
XM_011525337.1:c.2348G>A	XP_011523639.1:p.Gly783Asp
XM_011525338.1:c.2066G>A	XP_011523640.1:p.Gly689Asp
XM_011525340.1:c.2549G>A	XP_011523642.1:p.Gly850Asp
XM_011525332.3:c.2549G>A	XP_011523634.1:p.Gly850Asp
XM_011525333.3:c.2549G>A	XP_011523635.1:p.Gly850Asp
XM_011525334.2:c.2549G>A	XP_011523636.1:p.Gly850Asp
XM_011525335.3:c.2489G>A	XP_011523637.1:p.Gly830Asp
XM_011525336.2:c.2429G>A	XP_011523638.1:p.Gly810Asp
XM_011525337.2:c.2348G>A	XP_011523639.1:p.Gly783Asp
XM_011525338.2:c.2066G>A	XP_011523640.1:p.Gly689Asp
XM_011525340.3:c.2549G>A	XP_011523642.1:p.Gly850Asp
XM_017025200.1:c.2006G>A	XP_016880689.1:p.Gly669Asp
XM_017025201.1:c.2006G>A	XP_016880690.1:p.Gly669Asp
XM_017025202.1:c.635G>A	XP_016880691.1:p.Gly212Asp
XM_017025203.1:c.635G>A	XP_016880692.1:p.Gly212Asp
NM_032043.3:c.2489G>A MANE Select	NP_114432.2:p.Gly830Asp