Canonical Allele Identifier: CA400478803

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 949635
• ClinVar RCV Id: RCV001221135
• dbSNP Id: rs1235908208
• gnomAD v2: 17-59761003-T-C
• gnomAD v4: 17-61683642-T-C
• MyVariant Identifiers: chr17:g.59761003T>C (hg19) ; chr17:g.61683642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683642T>C , CM000679.2:g.61683642T>C	GRCh38
NC_000017.10:g.59761003T>C , CM000679.1:g.59761003T>C	GRCh37
NC_000017.9:g.57115785T>C	NCBI36
NG_007409.2:g.184918A>G , LRG_300:g.184918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2144A>G
ENST00000682453.1:c.3404A>G	ENSP00000506943.1:p.Glu1135Gly
ENST00000682477.1:c.*2830A>G	ENSP00000507075.1:n.*2830A>G
ENST00000682589.1:n.9281A>G
ENST00000682755.1:c.3182A>G	ENSP00000507660.1:p.Glu1061Gly
ENST00000682989.1:c.*495A>G	ENSP00000507786.1:n.*495A>G
ENST00000683039.1:c.3404A>G	ENSP00000508303.1:p.Glu1135Gly
ENST00000683235.1:c.*819A>G	ENSP00000507646.1:n.*819A>G
ENST00000683535.1:n.1534A>G
ENST00000684584.1:c.2567A>G	ENSP00000508044.1:p.Glu856Gly
ENST00000684626.1:n.1650A>G
ENST00000684769.1:c.1594A>G	ENSP00000507691.1:n.1594A>G
ENST00000259008.7:c.3404A>G MANE Select	ENSP00000259008.2:p.Glu1135Gly
ENST00000259008.6:c.3404A>G	ENSP00000259008.2:p.Glu1135Gly
NM_032043.2:c.3404A>G , LRG_300t1:c.3404A>G	NP_114432.2:p.Glu1135Gly
XM_011525332.1:c.3464A>G	XP_011523634.1:p.Glu1155Gly
XM_011525333.1:c.3464A>G	XP_011523635.1:p.Glu1155Gly
XM_011525334.1:c.3464A>G	XP_011523636.1:p.Glu1155Gly
XM_011525335.1:c.3404A>G	XP_011523637.1:p.Glu1135Gly
XM_011525336.1:c.3344A>G	XP_011523638.1:p.Glu1115Gly
XM_011525337.1:c.3263A>G	XP_011523639.1:p.Glu1088Gly
XM_011525338.1:c.2981A>G	XP_011523640.1:p.Glu994Gly
XM_011525332.3:c.3464A>G	XP_011523634.1:p.Glu1155Gly
XM_011525333.3:c.3464A>G	XP_011523635.1:p.Glu1155Gly
XM_011525334.2:c.3464A>G	XP_011523636.1:p.Glu1155Gly
XM_011525335.3:c.3404A>G	XP_011523637.1:p.Glu1135Gly
XM_011525336.2:c.3344A>G	XP_011523638.1:p.Glu1115Gly
XM_011525337.2:c.3263A>G	XP_011523639.1:p.Glu1088Gly
XM_011525338.2:c.2981A>G	XP_011523640.1:p.Glu994Gly
XM_017025200.1:c.2921A>G	XP_016880689.1:p.Glu974Gly
XM_017025201.1:c.2921A>G	XP_016880690.1:p.Glu974Gly
XM_017025202.1:c.1550A>G	XP_016880691.1:p.Glu517Gly
XM_017025203.1:c.1550A>G	XP_016880692.1:p.Glu517Gly
NM_032043.3:c.3404A>G MANE Select	NP_114432.2:p.Glu1135Gly