Canonical Allele Identifier: CA400479966

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 481639
• ClinVar RCV Id: RCV000569183 ; RCV000696070
• dbSNP Id: rs1555572908
• gnomAD v4: 17-61684020-C-T
• MyVariant Identifiers: chr17:g.59761381C>T (hg19) ; chr17:g.61684020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684020C>T , CM000679.2:g.61684020C>T	GRCh38
NC_000017.10:g.59761381C>T , CM000679.1:g.59761381C>T	GRCh37
NC_000017.9:g.57116163C>T	NCBI36
NG_007409.2:g.184540G>A , LRG_300:g.184540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1766G>A
ENST00000682453.1:c.3026G>A	ENSP00000506943.1:p.Gly1009Glu
ENST00000682477.1:c.*2452G>A	ENSP00000507075.1:n.*2452G>A
ENST00000682589.1:n.8903G>A
ENST00000682755.1:c.2804G>A	ENSP00000507660.1:p.Gly935Glu
ENST00000682989.1:c.*117G>A	ENSP00000507786.1:n.*117G>A
ENST00000683039.1:c.3026G>A	ENSP00000508303.1:p.Gly1009Glu
ENST00000683235.1:c.*441G>A	ENSP00000507646.1:n.*441G>A
ENST00000683535.1:n.1156G>A
ENST00000684584.1:c.2189G>A	ENSP00000508044.1:p.Gly730Glu
ENST00000684626.1:n.1272G>A
ENST00000684769.1:c.1216G>A	ENSP00000507691.1:n.1216G>A
ENST00000259008.7:c.3026G>A MANE Select	ENSP00000259008.2:p.Gly1009Glu
ENST00000259008.6:c.3026G>A	ENSP00000259008.2:p.Gly1009Glu
NM_032043.2:c.3026G>A , LRG_300t1:c.3026G>A	NP_114432.2:p.Gly1009Glu
XM_011525332.1:c.3086G>A	XP_011523634.1:p.Gly1029Glu
XM_011525333.1:c.3086G>A	XP_011523635.1:p.Gly1029Glu
XM_011525334.1:c.3086G>A	XP_011523636.1:p.Gly1029Glu
XM_011525335.1:c.3026G>A	XP_011523637.1:p.Gly1009Glu
XM_011525336.1:c.2966G>A	XP_011523638.1:p.Gly989Glu
XM_011525337.1:c.2885G>A	XP_011523639.1:p.Gly962Glu
XM_011525338.1:c.2603G>A	XP_011523640.1:p.Gly868Glu
XM_011525332.3:c.3086G>A	XP_011523634.1:p.Gly1029Glu
XM_011525333.3:c.3086G>A	XP_011523635.1:p.Gly1029Glu
XM_011525334.2:c.3086G>A	XP_011523636.1:p.Gly1029Glu
XM_011525335.3:c.3026G>A	XP_011523637.1:p.Gly1009Glu
XM_011525336.2:c.2966G>A	XP_011523638.1:p.Gly989Glu
XM_011525337.2:c.2885G>A	XP_011523639.1:p.Gly962Glu
XM_011525338.2:c.2603G>A	XP_011523640.1:p.Gly868Glu
XM_017025200.1:c.2543G>A	XP_016880689.1:p.Gly848Glu
XM_017025201.1:c.2543G>A	XP_016880690.1:p.Gly848Glu
XM_017025202.1:c.1172G>A	XP_016880691.1:p.Gly391Glu
XM_017025203.1:c.1172G>A	XP_016880692.1:p.Gly391Glu
NM_032043.3:c.3026G>A MANE Select	NP_114432.2:p.Gly1009Glu