Canonical Allele Identifier: CA16620510

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 419472
• ClinVar RCV Id: RCV000484914 ; RCV000701214 ; RCV000570953
• dbSNP Id: rs1064793894
• gnomAD v4: 17-61683675-T-C
• MyVariant Identifiers: chr17:g.59761036T>C (hg19) ; chr17:g.61683675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683675T>C , CM000679.2:g.61683675T>C	GRCh38
NC_000017.10:g.59761036T>C , CM000679.1:g.59761036T>C	GRCh37
NC_000017.9:g.57115818T>C	NCBI36
NG_007409.2:g.184885A>G , LRG_300:g.184885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2111A>G
ENST00000682453.1:c.3371A>G	ENSP00000506943.1:p.Glu1124Gly
ENST00000682477.1:c.*2797A>G	ENSP00000507075.1:n.*2797A>G
ENST00000682589.1:n.9248A>G
ENST00000682755.1:c.3149A>G	ENSP00000507660.1:p.Glu1050Gly
ENST00000682989.1:c.*462A>G	ENSP00000507786.1:n.*462A>G
ENST00000683039.1:c.3371A>G	ENSP00000508303.1:p.Glu1124Gly
ENST00000683235.1:c.*786A>G	ENSP00000507646.1:n.*786A>G
ENST00000683535.1:n.1501A>G
ENST00000684584.1:c.2534A>G	ENSP00000508044.1:p.Glu845Gly
ENST00000684626.1:n.1617A>G
ENST00000684769.1:c.1561A>G	ENSP00000507691.1:n.1561A>G
ENST00000259008.7:c.3371A>G MANE Select	ENSP00000259008.2:p.Glu1124Gly
ENST00000259008.6:c.3371A>G	ENSP00000259008.2:p.Glu1124Gly
NM_032043.2:c.3371A>G , LRG_300t1:c.3371A>G	NP_114432.2:p.Glu1124Gly
XM_011525332.1:c.3431A>G	XP_011523634.1:p.Glu1144Gly
XM_011525333.1:c.3431A>G	XP_011523635.1:p.Glu1144Gly
XM_011525334.1:c.3431A>G	XP_011523636.1:p.Glu1144Gly
XM_011525335.1:c.3371A>G	XP_011523637.1:p.Glu1124Gly
XM_011525336.1:c.3311A>G	XP_011523638.1:p.Glu1104Gly
XM_011525337.1:c.3230A>G	XP_011523639.1:p.Glu1077Gly
XM_011525338.1:c.2948A>G	XP_011523640.1:p.Glu983Gly
XM_011525332.3:c.3431A>G	XP_011523634.1:p.Glu1144Gly
XM_011525333.3:c.3431A>G	XP_011523635.1:p.Glu1144Gly
XM_011525334.2:c.3431A>G	XP_011523636.1:p.Glu1144Gly
XM_011525335.3:c.3371A>G	XP_011523637.1:p.Glu1124Gly
XM_011525336.2:c.3311A>G	XP_011523638.1:p.Glu1104Gly
XM_011525337.2:c.3230A>G	XP_011523639.1:p.Glu1077Gly
XM_011525338.2:c.2948A>G	XP_011523640.1:p.Glu983Gly
XM_017025200.1:c.2888A>G	XP_016880689.1:p.Glu963Gly
XM_017025201.1:c.2888A>G	XP_016880690.1:p.Glu963Gly
XM_017025202.1:c.1517A>G	XP_016880691.1:p.Glu506Gly
XM_017025203.1:c.1517A>G	XP_016880692.1:p.Glu506Gly
NM_032043.3:c.3371A>G MANE Select	NP_114432.2:p.Glu1124Gly