Canonical Allele Identifier: CA288588

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 128186
• ClinVar RCV Id: RCV000116155 ; RCV000204181 ; RCV000410336 ; RCV000409119 ; RCV000214821 ; RCV001194197 ; RCV001354313 ; RCV003315658
• dbSNP Id: rs587780248
• ExAC: 17:59761076 C / G
• gnomAD v2: 17-59761076-C-G
• gnomAD v3: 17-61683715-C-G
• gnomAD v4: 17-61683715-C-G
• MyVariant Identifiers: chr17:g.59761076C>G (hg19) ; chr17:g.61683715C>G (hg38)
• PubMed: PMID:26315354 ; PMID:26689913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683715C>G , CM000679.2:g.61683715C>G	GRCh38
NC_000017.10:g.59761076C>G , CM000679.1:g.59761076C>G	GRCh37
NC_000017.9:g.57115858C>G	NCBI36
NG_007409.2:g.184845G>C , LRG_300:g.184845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2071G>C
ENST00000682453.1:c.3331G>C	ENSP00000506943.1:p.Glu1111Gln
ENST00000682477.1:c.*2757G>C	ENSP00000507075.1:n.*2757G>C
ENST00000682589.1:n.9208G>C
ENST00000682755.1:c.3109G>C	ENSP00000507660.1:p.Glu1037Gln
ENST00000682989.1:c.*422G>C	ENSP00000507786.1:n.*422G>C
ENST00000683039.1:c.3331G>C	ENSP00000508303.1:p.Glu1111Gln
ENST00000683235.1:c.*746G>C	ENSP00000507646.1:n.*746G>C
ENST00000683535.1:n.1461G>C
ENST00000684584.1:c.2494G>C	ENSP00000508044.1:p.Glu832Gln
ENST00000684626.1:n.1577G>C
ENST00000684769.1:c.1521G>C	ENSP00000507691.1:n.1521G>C
ENST00000259008.7:c.3331G>C MANE Select	ENSP00000259008.2:p.Glu1111Gln
ENST00000259008.6:c.3331G>C	ENSP00000259008.2:p.Glu1111Gln
NM_032043.2:c.3331G>C , LRG_300t1:c.3331G>C	NP_114432.2:p.Glu1111Gln
XM_011525332.1:c.3391G>C	XP_011523634.1:p.Glu1131Gln
XM_011525333.1:c.3391G>C	XP_011523635.1:p.Glu1131Gln
XM_011525334.1:c.3391G>C	XP_011523636.1:p.Glu1131Gln
XM_011525335.1:c.3331G>C	XP_011523637.1:p.Glu1111Gln
XM_011525336.1:c.3271G>C	XP_011523638.1:p.Glu1091Gln
XM_011525337.1:c.3190G>C	XP_011523639.1:p.Glu1064Gln
XM_011525338.1:c.2908G>C	XP_011523640.1:p.Glu970Gln
XM_011525332.3:c.3391G>C	XP_011523634.1:p.Glu1131Gln
XM_011525333.3:c.3391G>C	XP_011523635.1:p.Glu1131Gln
XM_011525334.2:c.3391G>C	XP_011523636.1:p.Glu1131Gln
XM_011525335.3:c.3331G>C	XP_011523637.1:p.Glu1111Gln
XM_011525336.2:c.3271G>C	XP_011523638.1:p.Glu1091Gln
XM_011525337.2:c.3190G>C	XP_011523639.1:p.Glu1064Gln
XM_011525338.2:c.2908G>C	XP_011523640.1:p.Glu970Gln
XM_017025200.1:c.2848G>C	XP_016880689.1:p.Glu950Gln
XM_017025201.1:c.2848G>C	XP_016880690.1:p.Glu950Gln
XM_017025202.1:c.1477G>C	XP_016880691.1:p.Glu493Gln
XM_017025203.1:c.1477G>C	XP_016880692.1:p.Glu493Gln
NM_032043.3:c.3331G>C MANE Select	NP_114432.2:p.Glu1111Gln