Canonical Allele Identifier: CA400479392

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 479432
• ClinVar RCV Id: RCV000572594
• dbSNP Id: rs876659062
• MyVariant Identifiers: chr17:g.59793316C>A (hg19) ; chr17:g.61715955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715955C>A , CM000679.2:g.61715955C>A	GRCh38
NC_000017.10:g.59793316C>A , CM000679.1:g.59793316C>A	GRCh37
NC_000017.9:g.57148098C>A	NCBI36
NG_007409.2:g.152605G>T , LRG_300:g.152605G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2618G>T	ENSP00000507191.1:n.2618G>T
ENST00000682073.1:n.1228G>T
ENST00000682433.1:n.1567G>T
ENST00000682453.1:c.2488G>T	ENSP00000506943.1:p.Gly830Cys
ENST00000682477.1:c.*1914G>T	ENSP00000507075.1:n.*1914G>T
ENST00000682589.1:n.8365G>T
ENST00000682755.1:c.2266G>T	ENSP00000507660.1:p.Gly756Cys
ENST00000682989.1:c.2488G>T	ENSP00000507786.1:p.Gly830Cys
ENST00000683039.1:c.2488G>T	ENSP00000508303.1:p.Gly830Cys
ENST00000683235.1:c.2488G>T	ENSP00000507646.1:p.Gly830Cys
ENST00000683535.1:n.618G>T
ENST00000684471.1:n.901G>T
ENST00000684584.1:c.1981G>T	ENSP00000508044.1:p.Gly661Cys
ENST00000684626.1:n.817G>T
ENST00000684769.1:c.553G>T	ENSP00000507691.1:p.Gly185Cys
ENST00000259008.7:c.2488G>T MANE Select	ENSP00000259008.2:p.Gly830Cys
ENST00000259008.6:c.2488G>T	ENSP00000259008.2:p.Gly830Cys
ENST00000577598.5:c.2488G>T	ENSP00000464654.1:p.Gly830Cys
NM_032043.2:c.2488G>T , LRG_300t1:c.2488G>T	NP_114432.2:p.Gly830Cys
XM_011525332.1:c.2548G>T	XP_011523634.1:p.Gly850Cys
XM_011525333.1:c.2548G>T	XP_011523635.1:p.Gly850Cys
XM_011525334.1:c.2548G>T	XP_011523636.1:p.Gly850Cys
XM_011525335.1:c.2488G>T	XP_011523637.1:p.Gly830Cys
XM_011525336.1:c.2428G>T	XP_011523638.1:p.Gly810Cys
XM_011525337.1:c.2347G>T	XP_011523639.1:p.Gly783Cys
XM_011525338.1:c.2065G>T	XP_011523640.1:p.Gly689Cys
XM_011525340.1:c.2548G>T	XP_011523642.1:p.Gly850Cys
XM_011525332.3:c.2548G>T	XP_011523634.1:p.Gly850Cys
XM_011525333.3:c.2548G>T	XP_011523635.1:p.Gly850Cys
XM_011525334.2:c.2548G>T	XP_011523636.1:p.Gly850Cys
XM_011525335.3:c.2488G>T	XP_011523637.1:p.Gly830Cys
XM_011525336.2:c.2428G>T	XP_011523638.1:p.Gly810Cys
XM_011525337.2:c.2347G>T	XP_011523639.1:p.Gly783Cys
XM_011525338.2:c.2065G>T	XP_011523640.1:p.Gly689Cys
XM_011525340.3:c.2548G>T	XP_011523642.1:p.Gly850Cys
XM_017025200.1:c.2005G>T	XP_016880689.1:p.Gly669Cys
XM_017025201.1:c.2005G>T	XP_016880690.1:p.Gly669Cys
XM_017025202.1:c.634G>T	XP_016880691.1:p.Gly212Cys
XM_017025203.1:c.634G>T	XP_016880692.1:p.Gly212Cys
NM_032043.3:c.2488G>T MANE Select	NP_114432.2:p.Gly830Cys