Canonical Allele Identifier: CA334772

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 188391
• ClinVar RCV Id: RCV000168450 ; RCV001382996
• dbSNP Id: rs786204250
• MyVariant Identifiers: chr17:g.59793357C>T (hg19) ; chr17:g.61715996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715996C>T , CM000679.2:g.61715996C>T	GRCh38
NC_000017.10:g.59793357C>T , CM000679.1:g.59793357C>T	GRCh37
NC_000017.9:g.57148139C>T	NCBI36
NG_007409.2:g.152564G>A , LRG_300:g.152564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2577G>A	ENSP00000507191.1:n.2577G>A
ENST00000682073.1:n.1187G>A
ENST00000682433.1:n.1526G>A
ENST00000682453.1:c.2447G>A	ENSP00000506943.1:p.Trp816Ter
ENST00000682477.1:c.*1873G>A	ENSP00000507075.1:n.*1873G>A
ENST00000682589.1:n.8324G>A
ENST00000682755.1:c.2225G>A	ENSP00000507660.1:p.Trp742Ter
ENST00000682989.1:c.2447G>A	ENSP00000507786.1:p.Trp816Ter
ENST00000683039.1:c.2447G>A	ENSP00000508303.1:p.Trp816Ter
ENST00000683235.1:c.2447G>A	ENSP00000507646.1:p.Trp816Ter
ENST00000683535.1:n.577G>A
ENST00000684471.1:n.860G>A
ENST00000684584.1:c.1940G>A	ENSP00000508044.1:p.Trp647Ter
ENST00000684626.1:n.776G>A
ENST00000684769.1:c.512G>A	ENSP00000507691.1:p.Trp171Ter
ENST00000259008.7:c.2447G>A MANE Select	ENSP00000259008.2:p.Trp816Ter
ENST00000259008.6:c.2447G>A	ENSP00000259008.2:p.Trp816Ter
ENST00000577598.5:c.2447G>A	ENSP00000464654.1:p.Trp816Ter
NM_032043.2:c.2447G>A , LRG_300t1:c.2447G>A	NP_114432.2:p.Trp816Ter
XM_011525332.1:c.2507G>A	XP_011523634.1:p.Trp836Ter
XM_011525333.1:c.2507G>A	XP_011523635.1:p.Trp836Ter
XM_011525334.1:c.2507G>A	XP_011523636.1:p.Trp836Ter
XM_011525335.1:c.2447G>A	XP_011523637.1:p.Trp816Ter
XM_011525336.1:c.2387G>A	XP_011523638.1:p.Trp796Ter
XM_011525337.1:c.2306G>A	XP_011523639.1:p.Trp769Ter
XM_011525338.1:c.2024G>A	XP_011523640.1:p.Trp675Ter
XM_011525339.1:c.*88G>A	XP_011523641.1:n.*88G>A
XM_011525340.1:c.2507G>A	XP_011523642.1:p.Trp836Ter
XM_011525332.3:c.2507G>A	XP_011523634.1:p.Trp836Ter
XM_011525333.3:c.2507G>A	XP_011523635.1:p.Trp836Ter
XM_011525334.2:c.2507G>A	XP_011523636.1:p.Trp836Ter
XM_011525335.3:c.2447G>A	XP_011523637.1:p.Trp816Ter
XM_011525336.2:c.2387G>A	XP_011523638.1:p.Trp796Ter
XM_011525337.2:c.2306G>A	XP_011523639.1:p.Trp769Ter
XM_011525338.2:c.2024G>A	XP_011523640.1:p.Trp675Ter
XM_011525339.3:c.*88G>A	XP_011523641.1:n.*88G>A
XM_011525340.3:c.2507G>A	XP_011523642.1:p.Trp836Ter
XM_017025200.1:c.1964G>A	XP_016880689.1:p.Trp655Ter
XM_017025201.1:c.1964G>A	XP_016880690.1:p.Trp655Ter
XM_017025202.1:c.593G>A	XP_016880691.1:p.Trp198Ter
XM_017025203.1:c.593G>A	XP_016880692.1:p.Trp198Ter
NM_032043.3:c.2447G>A MANE Select	NP_114432.2:p.Trp816Ter