Canonical Allele Identifier: CA400478414

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 999596
• ClinVar RCV Id: RCV001295613
• dbSNP Id: rs2061303537
• gnomAD v4: 17-61683520-T-C
• MyVariant Identifiers: chr17:g.59760881T>C (hg19) ; chr17:g.61683520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683520T>C , CM000679.2:g.61683520T>C	GRCh38
NC_000017.10:g.59760881T>C , CM000679.1:g.59760881T>C	GRCh37
NC_000017.9:g.57115663T>C	NCBI36
NG_007409.2:g.185040A>G , LRG_300:g.185040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2266A>G
ENST00000682453.1:c.3526A>G	ENSP00000506943.1:p.Ile1176Val
ENST00000682477.1:c.*2952A>G	ENSP00000507075.1:n.*2952A>G
ENST00000682589.1:n.9403A>G
ENST00000682755.1:c.3304A>G	ENSP00000507660.1:p.Ile1102Val
ENST00000682989.1:c.*617A>G	ENSP00000507786.1:n.*617A>G
ENST00000683039.1:c.3526A>G	ENSP00000508303.1:p.Ile1176Val
ENST00000683235.1:c.*941A>G	ENSP00000507646.1:n.*941A>G
ENST00000683535.1:n.1656A>G
ENST00000684584.1:c.2689A>G	ENSP00000508044.1:p.Ile897Val
ENST00000684626.1:n.1772A>G
ENST00000684769.1:c.1716A>G	ENSP00000507691.1:n.1716A>G
ENST00000259008.7:c.3526A>G MANE Select	ENSP00000259008.2:p.Ile1176Val
ENST00000259008.6:c.3526A>G	ENSP00000259008.2:p.Ile1176Val
NM_032043.2:c.3526A>G , LRG_300t1:c.3526A>G	NP_114432.2:p.Ile1176Val
XM_011525332.1:c.3586A>G	XP_011523634.1:p.Ile1196Val
XM_011525333.1:c.3586A>G	XP_011523635.1:p.Ile1196Val
XM_011525334.1:c.3586A>G	XP_011523636.1:p.Ile1196Val
XM_011525335.1:c.3526A>G	XP_011523637.1:p.Ile1176Val
XM_011525336.1:c.3466A>G	XP_011523638.1:p.Ile1156Val
XM_011525337.1:c.3385A>G	XP_011523639.1:p.Ile1129Val
XM_011525338.1:c.3103A>G	XP_011523640.1:p.Ile1035Val
XM_011525332.3:c.3586A>G	XP_011523634.1:p.Ile1196Val
XM_011525333.3:c.3586A>G	XP_011523635.1:p.Ile1196Val
XM_011525334.2:c.3586A>G	XP_011523636.1:p.Ile1196Val
XM_011525335.3:c.3526A>G	XP_011523637.1:p.Ile1176Val
XM_011525336.2:c.3466A>G	XP_011523638.1:p.Ile1156Val
XM_011525337.2:c.3385A>G	XP_011523639.1:p.Ile1129Val
XM_011525338.2:c.3103A>G	XP_011523640.1:p.Ile1035Val
XM_017025200.1:c.3043A>G	XP_016880689.1:p.Ile1015Val
XM_017025201.1:c.3043A>G	XP_016880690.1:p.Ile1015Val
XM_017025202.1:c.1672A>G	XP_016880691.1:p.Ile558Val
XM_017025203.1:c.1672A>G	XP_016880692.1:p.Ile558Val
NM_032043.3:c.3526A>G MANE Select	NP_114432.2:p.Ile1176Val