Canonical Allele Identifier: CA501335357

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1091822
• ClinVar RCV Id: RCV001411458
• dbSNP Id: rs2144087482
• gnomAD v4: 17-61683926-C-T
• MyVariant Identifiers: chr17:g.59761287C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683926C>T , CM000679.2:g.61683926C>T	GRCh38
NC_000017.10:g.59761287C>T , CM000679.1:g.59761287C>T	GRCh37
NC_000017.9:g.57116069C>T	NCBI36
NG_007409.2:g.184634G>A , LRG_300:g.184634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1860G>A
ENST00000682453.1:c.3120G>A	ENSP00000506943.1:p.Lys1040=
ENST00000682477.1:c.*2546G>A	ENSP00000507075.1:n.*2546G>A
ENST00000682589.1:n.8997G>A
ENST00000682755.1:c.2898G>A	ENSP00000507660.1:p.Lys966=
ENST00000682989.1:c.*211G>A	ENSP00000507786.1:n.*211G>A
ENST00000683039.1:c.3120G>A	ENSP00000508303.1:p.Lys1040=
ENST00000683235.1:c.*535G>A	ENSP00000507646.1:n.*535G>A
ENST00000683535.1:n.1250G>A
ENST00000684584.1:c.2283G>A	ENSP00000508044.1:p.Lys761=
ENST00000684626.1:n.1366G>A
ENST00000684769.1:c.1310G>A	ENSP00000507691.1:n.1310G>A
ENST00000259008.7:c.3120G>A MANE Select	ENSP00000259008.2:p.Lys1040=
ENST00000259008.6:c.3120G>A	ENSP00000259008.2:p.Lys1040=
NM_032043.2:c.3120G>A , LRG_300t1:c.3120G>A	NP_114432.2:p.Lys1040=
XM_011525332.1:c.3180G>A	XP_011523634.1:p.Lys1060=
XM_011525333.1:c.3180G>A	XP_011523635.1:p.Lys1060=
XM_011525334.1:c.3180G>A	XP_011523636.1:p.Lys1060=
XM_011525335.1:c.3120G>A	XP_011523637.1:p.Lys1040=
XM_011525336.1:c.3060G>A	XP_011523638.1:p.Lys1020=
XM_011525337.1:c.2979G>A	XP_011523639.1:p.Lys993=
XM_011525338.1:c.2697G>A	XP_011523640.1:p.Lys899=
XM_011525332.3:c.3180G>A	XP_011523634.1:p.Lys1060=
XM_011525333.3:c.3180G>A	XP_011523635.1:p.Lys1060=
XM_011525334.2:c.3180G>A	XP_011523636.1:p.Lys1060=
XM_011525335.3:c.3120G>A	XP_011523637.1:p.Lys1040=
XM_011525336.2:c.3060G>A	XP_011523638.1:p.Lys1020=
XM_011525337.2:c.2979G>A	XP_011523639.1:p.Lys993=
XM_011525338.2:c.2697G>A	XP_011523640.1:p.Lys899=
XM_017025200.1:c.2637G>A	XP_016880689.1:p.Lys879=
XM_017025201.1:c.2637G>A	XP_016880690.1:p.Lys879=
XM_017025202.1:c.1266G>A	XP_016880691.1:p.Lys422=
XM_017025203.1:c.1266G>A	XP_016880692.1:p.Lys422=
NM_032043.3:c.3120G>A MANE Select	NP_114432.2:p.Lys1040=