Canonical Allele Identifier: CA400481991

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530353
• ClinVar RCV Id: RCV000636183 ; RCV001525099 ; RCV003336108
• dbSNP Id: rs1555573497
• MyVariant Identifiers: chr17:g.59763513C>T (hg19) ; chr17:g.61686152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686152C>T , CM000679.2:g.61686152C>T	GRCh38
NC_000017.10:g.59763513C>T , CM000679.1:g.59763513C>T	GRCh37
NC_000017.9:g.57118295C>T	NCBI36
NG_007409.2:g.182408G>A , LRG_300:g.182408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2719G>A	ENSP00000507191.1:n.2719G>A
ENST00000682073.1:n.1329G>A
ENST00000682433.1:n.1668G>A
ENST00000682453.1:c.2589G>A	ENSP00000506943.1:p.Trp863Ter
ENST00000682477.1:c.*2015G>A	ENSP00000507075.1:n.*2015G>A
ENST00000682589.1:n.8466G>A
ENST00000682755.1:c.2367G>A	ENSP00000507660.1:p.Trp789Ter
ENST00000682989.1:c.2610-2012G>A	ENSP00000507786.1:n.2610-2012G>A
ENST00000683039.1:c.2589G>A	ENSP00000508303.1:p.Trp863Ter
ENST00000683235.1:c.*4G>A	ENSP00000507646.1:n.*4G>A
ENST00000683535.1:n.719G>A
ENST00000684471.1:n.1002G>A
ENST00000684584.1:c.2069-2012G>A	ENSP00000508044.1:n.2069-2012G>A
ENST00000684626.1:n.835G>A
ENST00000684769.1:c.779G>A	ENSP00000507691.1:n.779G>A
ENST00000259008.7:c.2589G>A MANE Select	ENSP00000259008.2:p.Trp863Ter
ENST00000259008.6:c.2589G>A	ENSP00000259008.2:p.Trp863Ter
ENST00000577598.5:c.2589G>A	ENSP00000464654.1:p.Trp863Ter
NM_032043.2:c.2589G>A , LRG_300t1:c.2589G>A	NP_114432.2:p.Trp863Ter
XM_011525332.1:c.2649G>A	XP_011523634.1:p.Trp883Ter
XM_011525333.1:c.2649G>A	XP_011523635.1:p.Trp883Ter
XM_011525334.1:c.2649G>A	XP_011523636.1:p.Trp883Ter
XM_011525335.1:c.2589G>A	XP_011523637.1:p.Trp863Ter
XM_011525336.1:c.2529G>A	XP_011523638.1:p.Trp843Ter
XM_011525337.1:c.2448G>A	XP_011523639.1:p.Trp816Ter
XM_011525338.1:c.2166G>A	XP_011523640.1:p.Trp722Ter
XM_011525340.1:c.*4G>A	XP_011523642.1:n.*4G>A
XM_011525332.3:c.2649G>A	XP_011523634.1:p.Trp883Ter
XM_011525333.3:c.2649G>A	XP_011523635.1:p.Trp883Ter
XM_011525334.2:c.2649G>A	XP_011523636.1:p.Trp883Ter
XM_011525335.3:c.2589G>A	XP_011523637.1:p.Trp863Ter
XM_011525336.2:c.2529G>A	XP_011523638.1:p.Trp843Ter
XM_011525337.2:c.2448G>A	XP_011523639.1:p.Trp816Ter
XM_011525338.2:c.2166G>A	XP_011523640.1:p.Trp722Ter
XM_011525340.3:c.*4G>A	XP_011523642.1:n.*4G>A
XM_017025200.1:c.2106G>A	XP_016880689.1:p.Trp702Ter
XM_017025201.1:c.2106G>A	XP_016880690.1:p.Trp702Ter
XM_017025202.1:c.735G>A	XP_016880691.1:p.Trp245Ter
XM_017025203.1:c.735G>A	XP_016880692.1:p.Trp245Ter
NM_032043.3:c.2589G>A MANE Select	NP_114432.2:p.Trp863Ter