Canonical Allele Identifier: CA400478859

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1477741
• ClinVar RCV Id: RCV001998437
• dbSNP Id: rs145855459
• MyVariant Identifiers: chr17:g.59761029T>A (hg19) ; chr17:g.61683668T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683668T>A , CM000679.2:g.61683668T>A	GRCh38
NC_000017.10:g.59761029T>A , CM000679.1:g.59761029T>A	GRCh37
NC_000017.9:g.57115811T>A	NCBI36
NG_007409.2:g.184892A>T , LRG_300:g.184892A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2118A>T
ENST00000682453.1:c.3378A>T	ENSP00000506943.1:p.Glu1126Asp
ENST00000682477.1:c.*2804A>T	ENSP00000507075.1:n.*2804A>T
ENST00000682589.1:n.9255A>T
ENST00000682755.1:c.3156A>T	ENSP00000507660.1:p.Glu1052Asp
ENST00000682989.1:c.*469A>T	ENSP00000507786.1:n.*469A>T
ENST00000683039.1:c.3378A>T	ENSP00000508303.1:p.Glu1126Asp
ENST00000683235.1:c.*793A>T	ENSP00000507646.1:n.*793A>T
ENST00000683535.1:n.1508A>T
ENST00000684584.1:c.2541A>T	ENSP00000508044.1:p.Glu847Asp
ENST00000684626.1:n.1624A>T
ENST00000684769.1:c.1568A>T	ENSP00000507691.1:n.1568A>T
ENST00000259008.7:c.3378A>T MANE Select	ENSP00000259008.2:p.Glu1126Asp
ENST00000259008.6:c.3378A>T	ENSP00000259008.2:p.Glu1126Asp
NM_032043.2:c.3378A>T , LRG_300t1:c.3378A>T	NP_114432.2:p.Glu1126Asp
XM_011525332.1:c.3438A>T	XP_011523634.1:p.Glu1146Asp
XM_011525333.1:c.3438A>T	XP_011523635.1:p.Glu1146Asp
XM_011525334.1:c.3438A>T	XP_011523636.1:p.Glu1146Asp
XM_011525335.1:c.3378A>T	XP_011523637.1:p.Glu1126Asp
XM_011525336.1:c.3318A>T	XP_011523638.1:p.Glu1106Asp
XM_011525337.1:c.3237A>T	XP_011523639.1:p.Glu1079Asp
XM_011525338.1:c.2955A>T	XP_011523640.1:p.Glu985Asp
XM_011525332.3:c.3438A>T	XP_011523634.1:p.Glu1146Asp
XM_011525333.3:c.3438A>T	XP_011523635.1:p.Glu1146Asp
XM_011525334.2:c.3438A>T	XP_011523636.1:p.Glu1146Asp
XM_011525335.3:c.3378A>T	XP_011523637.1:p.Glu1126Asp
XM_011525336.2:c.3318A>T	XP_011523638.1:p.Glu1106Asp
XM_011525337.2:c.3237A>T	XP_011523639.1:p.Glu1079Asp
XM_011525338.2:c.2955A>T	XP_011523640.1:p.Glu985Asp
XM_017025200.1:c.2895A>T	XP_016880689.1:p.Glu965Asp
XM_017025201.1:c.2895A>T	XP_016880690.1:p.Glu965Asp
XM_017025202.1:c.1524A>T	XP_016880691.1:p.Glu508Asp
XM_017025203.1:c.1524A>T	XP_016880692.1:p.Glu508Asp
NM_032043.3:c.3378A>T MANE Select	NP_114432.2:p.Glu1126Asp