Canonical Allele Identifier: CA400478818

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2774980
• ClinVar RCV Id: RCV003585038
• dbSNP Id: rs876659137
• MyVariant Identifiers: chr17:g.59761011A>C (hg19) ; chr17:g.61683650A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683650A>C , CM000679.2:g.61683650A>C	GRCh38
NC_000017.10:g.59761011A>C , CM000679.1:g.59761011A>C	GRCh37
NC_000017.9:g.57115793A>C	NCBI36
NG_007409.2:g.184910T>G , LRG_300:g.184910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2136T>G
ENST00000682453.1:c.3396T>G	ENSP00000506943.1:p.Phe1132Leu
ENST00000682477.1:c.*2822T>G	ENSP00000507075.1:n.*2822T>G
ENST00000682589.1:n.9273T>G
ENST00000682755.1:c.3174T>G	ENSP00000507660.1:p.Phe1058Leu
ENST00000682989.1:c.*487T>G	ENSP00000507786.1:n.*487T>G
ENST00000683039.1:c.3396T>G	ENSP00000508303.1:p.Phe1132Leu
ENST00000683235.1:c.*811T>G	ENSP00000507646.1:n.*811T>G
ENST00000683535.1:n.1526T>G
ENST00000684584.1:c.2559T>G	ENSP00000508044.1:p.Phe853Leu
ENST00000684626.1:n.1642T>G
ENST00000684769.1:c.1586T>G	ENSP00000507691.1:n.1586T>G
ENST00000259008.7:c.3396T>G MANE Select	ENSP00000259008.2:p.Phe1132Leu
ENST00000259008.6:c.3396T>G	ENSP00000259008.2:p.Phe1132Leu
NM_032043.2:c.3396T>G , LRG_300t1:c.3396T>G	NP_114432.2:p.Phe1132Leu
XM_011525332.1:c.3456T>G	XP_011523634.1:p.Phe1152Leu
XM_011525333.1:c.3456T>G	XP_011523635.1:p.Phe1152Leu
XM_011525334.1:c.3456T>G	XP_011523636.1:p.Phe1152Leu
XM_011525335.1:c.3396T>G	XP_011523637.1:p.Phe1132Leu
XM_011525336.1:c.3336T>G	XP_011523638.1:p.Phe1112Leu
XM_011525337.1:c.3255T>G	XP_011523639.1:p.Phe1085Leu
XM_011525338.1:c.2973T>G	XP_011523640.1:p.Phe991Leu
XM_011525332.3:c.3456T>G	XP_011523634.1:p.Phe1152Leu
XM_011525333.3:c.3456T>G	XP_011523635.1:p.Phe1152Leu
XM_011525334.2:c.3456T>G	XP_011523636.1:p.Phe1152Leu
XM_011525335.3:c.3396T>G	XP_011523637.1:p.Phe1132Leu
XM_011525336.2:c.3336T>G	XP_011523638.1:p.Phe1112Leu
XM_011525337.2:c.3255T>G	XP_011523639.1:p.Phe1085Leu
XM_011525338.2:c.2973T>G	XP_011523640.1:p.Phe991Leu
XM_017025200.1:c.2913T>G	XP_016880689.1:p.Phe971Leu
XM_017025201.1:c.2913T>G	XP_016880690.1:p.Phe971Leu
XM_017025202.1:c.1542T>G	XP_016880691.1:p.Phe514Leu
XM_017025203.1:c.1542T>G	XP_016880692.1:p.Phe514Leu
NM_032043.3:c.3396T>G MANE Select	NP_114432.2:p.Phe1132Leu