Canonical Allele Identifier: CA400479574

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 821295
• ClinVar RCV Id: RCV001015575 ; RCV001320415
• dbSNP Id: rs1064795352
• MyVariant Identifiers: chr17:g.59793356C>A (hg19) ; chr17:g.61715995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715995C>A , CM000679.2:g.61715995C>A	GRCh38
NC_000017.10:g.59793356C>A , CM000679.1:g.59793356C>A	GRCh37
NC_000017.9:g.57148138C>A	NCBI36
NG_007409.2:g.152565G>T , LRG_300:g.152565G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2578G>T	ENSP00000507191.1:n.2578G>T
ENST00000682073.1:n.1188G>T
ENST00000682433.1:n.1527G>T
ENST00000682453.1:c.2448G>T	ENSP00000506943.1:p.Trp816Cys
ENST00000682477.1:c.*1874G>T	ENSP00000507075.1:n.*1874G>T
ENST00000682589.1:n.8325G>T
ENST00000682755.1:c.2226G>T	ENSP00000507660.1:p.Trp742Cys
ENST00000682989.1:c.2448G>T	ENSP00000507786.1:p.Trp816Cys
ENST00000683039.1:c.2448G>T	ENSP00000508303.1:p.Trp816Cys
ENST00000683235.1:c.2448G>T	ENSP00000507646.1:p.Trp816Cys
ENST00000683535.1:n.578G>T
ENST00000684471.1:n.861G>T
ENST00000684584.1:c.1941G>T	ENSP00000508044.1:p.Trp647Cys
ENST00000684626.1:n.777G>T
ENST00000684769.1:c.513G>T	ENSP00000507691.1:p.Trp171Cys
ENST00000259008.7:c.2448G>T MANE Select	ENSP00000259008.2:p.Trp816Cys
ENST00000259008.6:c.2448G>T	ENSP00000259008.2:p.Trp816Cys
ENST00000577598.5:c.2448G>T	ENSP00000464654.1:p.Trp816Cys
NM_032043.2:c.2448G>T , LRG_300t1:c.2448G>T	NP_114432.2:p.Trp816Cys
XM_011525332.1:c.2508G>T	XP_011523634.1:p.Trp836Cys
XM_011525333.1:c.2508G>T	XP_011523635.1:p.Trp836Cys
XM_011525334.1:c.2508G>T	XP_011523636.1:p.Trp836Cys
XM_011525335.1:c.2448G>T	XP_011523637.1:p.Trp816Cys
XM_011525336.1:c.2388G>T	XP_011523638.1:p.Trp796Cys
XM_011525337.1:c.2307G>T	XP_011523639.1:p.Trp769Cys
XM_011525338.1:c.2025G>T	XP_011523640.1:p.Trp675Cys
XM_011525339.1:c.*89G>T	XP_011523641.1:n.*89G>T
XM_011525340.1:c.2508G>T	XP_011523642.1:p.Trp836Cys
XM_011525332.3:c.2508G>T	XP_011523634.1:p.Trp836Cys
XM_011525333.3:c.2508G>T	XP_011523635.1:p.Trp836Cys
XM_011525334.2:c.2508G>T	XP_011523636.1:p.Trp836Cys
XM_011525335.3:c.2448G>T	XP_011523637.1:p.Trp816Cys
XM_011525336.2:c.2388G>T	XP_011523638.1:p.Trp796Cys
XM_011525337.2:c.2307G>T	XP_011523639.1:p.Trp769Cys
XM_011525338.2:c.2025G>T	XP_011523640.1:p.Trp675Cys
XM_011525339.3:c.*89G>T	XP_011523641.1:n.*89G>T
XM_011525340.3:c.2508G>T	XP_011523642.1:p.Trp836Cys
XM_017025200.1:c.1965G>T	XP_016880689.1:p.Trp655Cys
XM_017025201.1:c.1965G>T	XP_016880690.1:p.Trp655Cys
XM_017025202.1:c.594G>T	XP_016880691.1:p.Trp198Cys
XM_017025203.1:c.594G>T	XP_016880692.1:p.Trp198Cys
NM_032043.3:c.2448G>T MANE Select	NP_114432.2:p.Trp816Cys