Canonical Allele Identifier: CA169715

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 142900
• ClinVar RCV Id: RCV000132368 ; RCV000461152 ; RCV001357266
• dbSNP Id: rs587782808
• ExAC: 17:59761343 C / T
• gnomAD v2: 17-59761343-C-T
• gnomAD v3: 17-61683982-C-T
• gnomAD v4: 17-61683982-C-T
• MyVariant Identifiers: chr17:g.59761343C>T (hg19) ; chr17:g.61683982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683982C>T , CM000679.2:g.61683982C>T	GRCh38
NC_000017.10:g.59761343C>T , CM000679.1:g.59761343C>T	GRCh37
NC_000017.9:g.57116125C>T	NCBI36
NG_007409.2:g.184578G>A , LRG_300:g.184578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1804G>A
ENST00000682453.1:c.3064G>A	ENSP00000506943.1:p.Glu1022Lys
ENST00000682477.1:c.*2490G>A	ENSP00000507075.1:n.*2490G>A
ENST00000682589.1:n.8941G>A
ENST00000682755.1:c.2842G>A	ENSP00000507660.1:p.Glu948Lys
ENST00000682989.1:c.*155G>A	ENSP00000507786.1:n.*155G>A
ENST00000683039.1:c.3064G>A	ENSP00000508303.1:p.Glu1022Lys
ENST00000683235.1:c.*479G>A	ENSP00000507646.1:n.*479G>A
ENST00000683535.1:n.1194G>A
ENST00000684584.1:c.2227G>A	ENSP00000508044.1:p.Glu743Lys
ENST00000684626.1:n.1310G>A
ENST00000684769.1:c.1254G>A	ENSP00000507691.1:n.1254G>A
ENST00000259008.7:c.3064G>A MANE Select	ENSP00000259008.2:p.Glu1022Lys
ENST00000259008.6:c.3064G>A	ENSP00000259008.2:p.Glu1022Lys
NM_032043.2:c.3064G>A , LRG_300t1:c.3064G>A	NP_114432.2:p.Glu1022Lys
XM_011525332.1:c.3124G>A	XP_011523634.1:p.Glu1042Lys
XM_011525333.1:c.3124G>A	XP_011523635.1:p.Glu1042Lys
XM_011525334.1:c.3124G>A	XP_011523636.1:p.Glu1042Lys
XM_011525335.1:c.3064G>A	XP_011523637.1:p.Glu1022Lys
XM_011525336.1:c.3004G>A	XP_011523638.1:p.Glu1002Lys
XM_011525337.1:c.2923G>A	XP_011523639.1:p.Glu975Lys
XM_011525338.1:c.2641G>A	XP_011523640.1:p.Glu881Lys
XM_011525332.3:c.3124G>A	XP_011523634.1:p.Glu1042Lys
XM_011525333.3:c.3124G>A	XP_011523635.1:p.Glu1042Lys
XM_011525334.2:c.3124G>A	XP_011523636.1:p.Glu1042Lys
XM_011525335.3:c.3064G>A	XP_011523637.1:p.Glu1022Lys
XM_011525336.2:c.3004G>A	XP_011523638.1:p.Glu1002Lys
XM_011525337.2:c.2923G>A	XP_011523639.1:p.Glu975Lys
XM_011525338.2:c.2641G>A	XP_011523640.1:p.Glu881Lys
XM_017025200.1:c.2581G>A	XP_016880689.1:p.Glu861Lys
XM_017025201.1:c.2581G>A	XP_016880690.1:p.Glu861Lys
XM_017025202.1:c.1210G>A	XP_016880691.1:p.Glu404Lys
XM_017025203.1:c.1210G>A	XP_016880692.1:p.Glu404Lys
NM_032043.3:c.3064G>A MANE Select	NP_114432.2:p.Glu1022Lys