Canonical Allele Identifier: CA400479690

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1727800
• ClinVar RCV Id: RCV002320432 ; RCV003099209
• dbSNP Id: rs2144087623
• MyVariant Identifiers: chr17:g.59761291T>C (hg19) ; chr17:g.61683930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683930T>C , CM000679.2:g.61683930T>C	GRCh38
NC_000017.10:g.59761291T>C , CM000679.1:g.59761291T>C	GRCh37
NC_000017.9:g.57116073T>C	NCBI36
NG_007409.2:g.184630A>G , LRG_300:g.184630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1856A>G
ENST00000682453.1:c.3116A>G	ENSP00000506943.1:p.Glu1039Gly
ENST00000682477.1:c.*2542A>G	ENSP00000507075.1:n.*2542A>G
ENST00000682589.1:n.8993A>G
ENST00000682755.1:c.2894A>G	ENSP00000507660.1:p.Glu965Gly
ENST00000682989.1:c.*207A>G	ENSP00000507786.1:n.*207A>G
ENST00000683039.1:c.3116A>G	ENSP00000508303.1:p.Glu1039Gly
ENST00000683235.1:c.*531A>G	ENSP00000507646.1:n.*531A>G
ENST00000683535.1:n.1246A>G
ENST00000684584.1:c.2279A>G	ENSP00000508044.1:p.Glu760Gly
ENST00000684626.1:n.1362A>G
ENST00000684769.1:c.1306A>G	ENSP00000507691.1:n.1306A>G
ENST00000259008.7:c.3116A>G MANE Select	ENSP00000259008.2:p.Glu1039Gly
ENST00000259008.6:c.3116A>G	ENSP00000259008.2:p.Glu1039Gly
NM_032043.2:c.3116A>G , LRG_300t1:c.3116A>G	NP_114432.2:p.Glu1039Gly
XM_011525332.1:c.3176A>G	XP_011523634.1:p.Glu1059Gly
XM_011525333.1:c.3176A>G	XP_011523635.1:p.Glu1059Gly
XM_011525334.1:c.3176A>G	XP_011523636.1:p.Glu1059Gly
XM_011525335.1:c.3116A>G	XP_011523637.1:p.Glu1039Gly
XM_011525336.1:c.3056A>G	XP_011523638.1:p.Glu1019Gly
XM_011525337.1:c.2975A>G	XP_011523639.1:p.Glu992Gly
XM_011525338.1:c.2693A>G	XP_011523640.1:p.Glu898Gly
XM_011525332.3:c.3176A>G	XP_011523634.1:p.Glu1059Gly
XM_011525333.3:c.3176A>G	XP_011523635.1:p.Glu1059Gly
XM_011525334.2:c.3176A>G	XP_011523636.1:p.Glu1059Gly
XM_011525335.3:c.3116A>G	XP_011523637.1:p.Glu1039Gly
XM_011525336.2:c.3056A>G	XP_011523638.1:p.Glu1019Gly
XM_011525337.2:c.2975A>G	XP_011523639.1:p.Glu992Gly
XM_011525338.2:c.2693A>G	XP_011523640.1:p.Glu898Gly
XM_017025200.1:c.2633A>G	XP_016880689.1:p.Glu878Gly
XM_017025201.1:c.2633A>G	XP_016880690.1:p.Glu878Gly
XM_017025202.1:c.1262A>G	XP_016880691.1:p.Glu421Gly
XM_017025203.1:c.1262A>G	XP_016880692.1:p.Glu421Gly
NM_032043.3:c.3116A>G MANE Select	NP_114432.2:p.Glu1039Gly