Canonical Allele Identifier: CA501335054

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 628914
• ClinVar RCV Id: RCV000773579 ; RCV001452581
• dbSNP Id: rs145855459
• MyVariant Identifiers: chr17:g.59761029T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2118A>G
ENST00000682453.1:c.3378A>G	ENSP00000506943.1:p.Glu1126=
ENST00000682477.1:c.*2804A>G	ENSP00000507075.1:n.*2804A>G
ENST00000682589.1:n.9255A>G
ENST00000682755.1:c.3156A>G	ENSP00000507660.1:p.Glu1052=
ENST00000682989.1:c.*469A>G	ENSP00000507786.1:n.*469A>G
ENST00000683039.1:c.3378A>G	ENSP00000508303.1:p.Glu1126=
ENST00000683235.1:c.*793A>G	ENSP00000507646.1:n.*793A>G
ENST00000683535.1:n.1508A>G
ENST00000684584.1:c.2541A>G	ENSP00000508044.1:p.Glu847=
ENST00000684626.1:n.1624A>G
ENST00000684769.1:c.1568A>G	ENSP00000507691.1:n.1568A>G
ENST00000259008.7:c.3378A>G MANE Select	ENSP00000259008.2:p.Glu1126=
ENST00000259008.6:c.3378A>G	ENSP00000259008.2:p.Glu1126=
NM_032043.2:c.3378A>G , LRG_300t1:c.3378A>G	NP_114432.2:p.Glu1126=
XM_011525332.1:c.3438A>G	XP_011523634.1:p.Glu1146=
XM_011525333.1:c.3438A>G	XP_011523635.1:p.Glu1146=
XM_011525334.1:c.3438A>G	XP_011523636.1:p.Glu1146=
XM_011525335.1:c.3378A>G	XP_011523637.1:p.Glu1126=
XM_011525336.1:c.3318A>G	XP_011523638.1:p.Glu1106=
XM_011525337.1:c.3237A>G	XP_011523639.1:p.Glu1079=
XM_011525338.1:c.2955A>G	XP_011523640.1:p.Glu985=
XM_011525332.3:c.3438A>G	XP_011523634.1:p.Glu1146=
XM_011525333.3:c.3438A>G	XP_011523635.1:p.Glu1146=
XM_011525334.2:c.3438A>G	XP_011523636.1:p.Glu1146=
XM_011525335.3:c.3378A>G	XP_011523637.1:p.Glu1126=
XM_011525336.2:c.3318A>G	XP_011523638.1:p.Glu1106=
XM_011525337.2:c.3237A>G	XP_011523639.1:p.Glu1079=
XM_011525338.2:c.2955A>G	XP_011523640.1:p.Glu985=
XM_017025200.1:c.2895A>G	XP_016880689.1:p.Glu965=
XM_017025201.1:c.2895A>G	XP_016880690.1:p.Glu965=
XM_017025202.1:c.1524A>G	XP_016880691.1:p.Glu508=
XM_017025203.1:c.1524A>G	XP_016880692.1:p.Glu508=
NM_032043.3:c.3378A>G MANE Select	NP_114432.2:p.Glu1126=