Canonical Allele Identifier: CA400478889

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1730646
• ClinVar RCV Id: RCV002454784 ; RCV003775602
• gnomAD v4: 17-61683682-C-G
• MyVariant Identifiers: chr17:g.59761043C>G (hg19) ; chr17:g.61683682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683682C>G , CM000679.2:g.61683682C>G	GRCh38
NC_000017.10:g.59761043C>G , CM000679.1:g.59761043C>G	GRCh37
NC_000017.9:g.57115825C>G	NCBI36
NG_007409.2:g.184878G>C , LRG_300:g.184878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2104G>C
ENST00000682453.1:c.3364G>C	ENSP00000506943.1:p.Glu1122Gln
ENST00000682477.1:c.*2790G>C	ENSP00000507075.1:n.*2790G>C
ENST00000682589.1:n.9241G>C
ENST00000682755.1:c.3142G>C	ENSP00000507660.1:p.Glu1048Gln
ENST00000682989.1:c.*455G>C	ENSP00000507786.1:n.*455G>C
ENST00000683039.1:c.3364G>C	ENSP00000508303.1:p.Glu1122Gln
ENST00000683235.1:c.*779G>C	ENSP00000507646.1:n.*779G>C
ENST00000683535.1:n.1494G>C
ENST00000684584.1:c.2527G>C	ENSP00000508044.1:p.Glu843Gln
ENST00000684626.1:n.1610G>C
ENST00000684769.1:c.1554G>C	ENSP00000507691.1:n.1554G>C
ENST00000259008.7:c.3364G>C MANE Select	ENSP00000259008.2:p.Glu1122Gln
ENST00000259008.6:c.3364G>C	ENSP00000259008.2:p.Glu1122Gln
NM_032043.2:c.3364G>C , LRG_300t1:c.3364G>C	NP_114432.2:p.Glu1122Gln
XM_011525332.1:c.3424G>C	XP_011523634.1:p.Glu1142Gln
XM_011525333.1:c.3424G>C	XP_011523635.1:p.Glu1142Gln
XM_011525334.1:c.3424G>C	XP_011523636.1:p.Glu1142Gln
XM_011525335.1:c.3364G>C	XP_011523637.1:p.Glu1122Gln
XM_011525336.1:c.3304G>C	XP_011523638.1:p.Glu1102Gln
XM_011525337.1:c.3223G>C	XP_011523639.1:p.Glu1075Gln
XM_011525338.1:c.2941G>C	XP_011523640.1:p.Glu981Gln
XM_011525332.3:c.3424G>C	XP_011523634.1:p.Glu1142Gln
XM_011525333.3:c.3424G>C	XP_011523635.1:p.Glu1142Gln
XM_011525334.2:c.3424G>C	XP_011523636.1:p.Glu1142Gln
XM_011525335.3:c.3364G>C	XP_011523637.1:p.Glu1122Gln
XM_011525336.2:c.3304G>C	XP_011523638.1:p.Glu1102Gln
XM_011525337.2:c.3223G>C	XP_011523639.1:p.Glu1075Gln
XM_011525338.2:c.2941G>C	XP_011523640.1:p.Glu981Gln
XM_017025200.1:c.2881G>C	XP_016880689.1:p.Glu961Gln
XM_017025201.1:c.2881G>C	XP_016880690.1:p.Glu961Gln
XM_017025202.1:c.1510G>C	XP_016880691.1:p.Glu504Gln
XM_017025203.1:c.1510G>C	XP_016880692.1:p.Glu504Gln
NM_032043.3:c.3364G>C MANE Select	NP_114432.2:p.Glu1122Gln