Canonical Allele Identifier: CA400479180

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1372935
• ClinVar RCV Id: RCV001874941 ; RCV003585001 ; RCV003442937
• dbSNP Id: rs786204230
• MyVariant Identifiers: chr17:g.59761169C>A (hg19) ; chr17:g.61683808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683808C>A , CM000679.2:g.61683808C>A	GRCh38
NC_000017.10:g.59761169C>A , CM000679.1:g.59761169C>A	GRCh37
NC_000017.9:g.57115951C>A	NCBI36
NG_007409.2:g.184752G>T , LRG_300:g.184752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1978G>T
ENST00000682453.1:c.3238G>T	ENSP00000506943.1:p.Asp1080Tyr
ENST00000682477.1:c.*2664G>T	ENSP00000507075.1:n.*2664G>T
ENST00000682589.1:n.9115G>T
ENST00000682755.1:c.3016G>T	ENSP00000507660.1:p.Asp1006Tyr
ENST00000682989.1:c.*329G>T	ENSP00000507786.1:n.*329G>T
ENST00000683039.1:c.3238G>T	ENSP00000508303.1:p.Asp1080Tyr
ENST00000683235.1:c.*653G>T	ENSP00000507646.1:n.*653G>T
ENST00000683535.1:n.1368G>T
ENST00000684584.1:c.2401G>T	ENSP00000508044.1:p.Asp801Tyr
ENST00000684626.1:n.1484G>T
ENST00000684769.1:c.1428G>T	ENSP00000507691.1:n.1428G>T
ENST00000259008.7:c.3238G>T MANE Select	ENSP00000259008.2:p.Asp1080Tyr
ENST00000259008.6:c.3238G>T	ENSP00000259008.2:p.Asp1080Tyr
NM_032043.2:c.3238G>T , LRG_300t1:c.3238G>T	NP_114432.2:p.Asp1080Tyr
XM_011525332.1:c.3298G>T	XP_011523634.1:p.Asp1100Tyr
XM_011525333.1:c.3298G>T	XP_011523635.1:p.Asp1100Tyr
XM_011525334.1:c.3298G>T	XP_011523636.1:p.Asp1100Tyr
XM_011525335.1:c.3238G>T	XP_011523637.1:p.Asp1080Tyr
XM_011525336.1:c.3178G>T	XP_011523638.1:p.Asp1060Tyr
XM_011525337.1:c.3097G>T	XP_011523639.1:p.Asp1033Tyr
XM_011525338.1:c.2815G>T	XP_011523640.1:p.Asp939Tyr
XM_011525332.3:c.3298G>T	XP_011523634.1:p.Asp1100Tyr
XM_011525333.3:c.3298G>T	XP_011523635.1:p.Asp1100Tyr
XM_011525334.2:c.3298G>T	XP_011523636.1:p.Asp1100Tyr
XM_011525335.3:c.3238G>T	XP_011523637.1:p.Asp1080Tyr
XM_011525336.2:c.3178G>T	XP_011523638.1:p.Asp1060Tyr
XM_011525337.2:c.3097G>T	XP_011523639.1:p.Asp1033Tyr
XM_011525338.2:c.2815G>T	XP_011523640.1:p.Asp939Tyr
XM_017025200.1:c.2755G>T	XP_016880689.1:p.Asp919Tyr
XM_017025201.1:c.2755G>T	XP_016880690.1:p.Asp919Tyr
XM_017025202.1:c.1384G>T	XP_016880691.1:p.Asp462Tyr
XM_017025203.1:c.1384G>T	XP_016880692.1:p.Asp462Tyr
NM_032043.3:c.3238G>T MANE Select	NP_114432.2:p.Asp1080Tyr