Canonical Allele Identifier: CA400479045

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 3228123
• ClinVar RCV Id: RCV004519833
• dbSNP Id: rs2061312881
• MyVariant Identifiers: chr17:g.59761116T>A (hg19) ; chr17:g.61683755T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683755T>A , CM000679.2:g.61683755T>A	GRCh38
NC_000017.10:g.59761116T>A , CM000679.1:g.59761116T>A	GRCh37
NC_000017.9:g.57115898T>A	NCBI36
NG_007409.2:g.184805A>T , LRG_300:g.184805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2031A>T
ENST00000682453.1:c.3291A>T	ENSP00000506943.1:p.Glu1097Asp
ENST00000682477.1:c.*2717A>T	ENSP00000507075.1:n.*2717A>T
ENST00000682589.1:n.9168A>T
ENST00000682755.1:c.3069A>T	ENSP00000507660.1:p.Glu1023Asp
ENST00000682989.1:c.*382A>T	ENSP00000507786.1:n.*382A>T
ENST00000683039.1:c.3291A>T	ENSP00000508303.1:p.Glu1097Asp
ENST00000683235.1:c.*706A>T	ENSP00000507646.1:n.*706A>T
ENST00000683535.1:n.1421A>T
ENST00000684584.1:c.2454A>T	ENSP00000508044.1:p.Glu818Asp
ENST00000684626.1:n.1537A>T
ENST00000684769.1:c.1481A>T	ENSP00000507691.1:n.1481A>T
ENST00000259008.7:c.3291A>T MANE Select	ENSP00000259008.2:p.Glu1097Asp
ENST00000259008.6:c.3291A>T	ENSP00000259008.2:p.Glu1097Asp
NM_032043.2:c.3291A>T , LRG_300t1:c.3291A>T	NP_114432.2:p.Glu1097Asp
XM_011525332.1:c.3351A>T	XP_011523634.1:p.Glu1117Asp
XM_011525333.1:c.3351A>T	XP_011523635.1:p.Glu1117Asp
XM_011525334.1:c.3351A>T	XP_011523636.1:p.Glu1117Asp
XM_011525335.1:c.3291A>T	XP_011523637.1:p.Glu1097Asp
XM_011525336.1:c.3231A>T	XP_011523638.1:p.Glu1077Asp
XM_011525337.1:c.3150A>T	XP_011523639.1:p.Glu1050Asp
XM_011525338.1:c.2868A>T	XP_011523640.1:p.Glu956Asp
XM_011525332.3:c.3351A>T	XP_011523634.1:p.Glu1117Asp
XM_011525333.3:c.3351A>T	XP_011523635.1:p.Glu1117Asp
XM_011525334.2:c.3351A>T	XP_011523636.1:p.Glu1117Asp
XM_011525335.3:c.3291A>T	XP_011523637.1:p.Glu1097Asp
XM_011525336.2:c.3231A>T	XP_011523638.1:p.Glu1077Asp
XM_011525337.2:c.3150A>T	XP_011523639.1:p.Glu1050Asp
XM_011525338.2:c.2868A>T	XP_011523640.1:p.Glu956Asp
XM_017025200.1:c.2808A>T	XP_016880689.1:p.Glu936Asp
XM_017025201.1:c.2808A>T	XP_016880690.1:p.Glu936Asp
XM_017025202.1:c.1437A>T	XP_016880691.1:p.Glu479Asp
XM_017025203.1:c.1437A>T	XP_016880692.1:p.Glu479Asp
NM_032043.3:c.3291A>T MANE Select	NP_114432.2:p.Glu1097Asp