Canonical Allele Identifier: CA400481401

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1075663
• ClinVar RCV Id: RCV001389332 ; RCV002290705 ; RCV003169951
• dbSNP Id: rs863224802
• MyVariant Identifiers: chr17:g.59763269C>A (hg19) ; chr17:g.61685908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685908C>A , CM000679.2:g.61685908C>A	GRCh38
NC_000017.10:g.59763269C>A , CM000679.1:g.59763269C>A	GRCh37
NC_000017.9:g.57118051C>A	NCBI36
NG_007409.2:g.182652G>T , LRG_300:g.182652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2963G>T	ENSP00000507191.1:n.2963G>T
ENST00000682073.1:n.1573G>T
ENST00000682433.1:n.1912G>T
ENST00000682453.1:c.2833G>T	ENSP00000506943.1:p.Glu945Ter
ENST00000682477.1:c.*2259G>T	ENSP00000507075.1:n.*2259G>T
ENST00000682589.1:n.8710G>T
ENST00000682755.1:c.2611G>T	ENSP00000507660.1:p.Glu871Ter
ENST00000682989.1:c.2610-1768G>T	ENSP00000507786.1:n.2610-1768G>T
ENST00000683039.1:c.2833G>T	ENSP00000508303.1:p.Glu945Ter
ENST00000683235.1:c.*248G>T	ENSP00000507646.1:n.*248G>T
ENST00000683535.1:n.963G>T
ENST00000684471.1:n.1246G>T
ENST00000684584.1:c.2069-1768G>T	ENSP00000508044.1:n.2069-1768G>T
ENST00000684626.1:n.1079G>T
ENST00000684769.1:c.1023G>T	ENSP00000507691.1:n.1023G>T
ENST00000259008.7:c.2833G>T MANE Select	ENSP00000259008.2:p.Glu945Ter
ENST00000259008.6:c.2833G>T	ENSP00000259008.2:p.Glu945Ter
ENST00000577598.5:c.2833G>T	ENSP00000464654.1:p.Glu945Ter
NM_032043.2:c.2833G>T , LRG_300t1:c.2833G>T	NP_114432.2:p.Glu945Ter
XM_011525332.1:c.2893G>T	XP_011523634.1:p.Glu965Ter
XM_011525333.1:c.2893G>T	XP_011523635.1:p.Glu965Ter
XM_011525334.1:c.2893G>T	XP_011523636.1:p.Glu965Ter
XM_011525335.1:c.2833G>T	XP_011523637.1:p.Glu945Ter
XM_011525336.1:c.2773G>T	XP_011523638.1:p.Glu925Ter
XM_011525337.1:c.2692G>T	XP_011523639.1:p.Glu898Ter
XM_011525338.1:c.2410G>T	XP_011523640.1:p.Glu804Ter
XM_011525332.3:c.2893G>T	XP_011523634.1:p.Glu965Ter
XM_011525333.3:c.2893G>T	XP_011523635.1:p.Glu965Ter
XM_011525334.2:c.2893G>T	XP_011523636.1:p.Glu965Ter
XM_011525335.3:c.2833G>T	XP_011523637.1:p.Glu945Ter
XM_011525336.2:c.2773G>T	XP_011523638.1:p.Glu925Ter
XM_011525337.2:c.2692G>T	XP_011523639.1:p.Glu898Ter
XM_011525338.2:c.2410G>T	XP_011523640.1:p.Glu804Ter
XM_017025200.1:c.2350G>T	XP_016880689.1:p.Glu784Ter
XM_017025201.1:c.2350G>T	XP_016880690.1:p.Glu784Ter
XM_017025202.1:c.979G>T	XP_016880691.1:p.Glu327Ter
XM_017025203.1:c.979G>T	XP_016880692.1:p.Glu327Ter
NM_032043.3:c.2833G>T MANE Select	NP_114432.2:p.Glu945Ter