Canonical Allele Identifier: CA400479360

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 925380
• ClinVar RCV Id: RCV001187262 ; RCV001219207
• dbSNP Id: rs1199327421
• MyVariant Identifiers: chr17:g.59761211A>T (hg19) ; chr17:g.61683850A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683850A>T , CM000679.2:g.61683850A>T	GRCh38
NC_000017.10:g.59761211A>T , CM000679.1:g.59761211A>T	GRCh37
NC_000017.9:g.57115993A>T	NCBI36
NG_007409.2:g.184710T>A , LRG_300:g.184710T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1936T>A
ENST00000682453.1:c.3196T>A	ENSP00000506943.1:p.Ser1066Thr
ENST00000682477.1:c.*2622T>A	ENSP00000507075.1:n.*2622T>A
ENST00000682589.1:n.9073T>A
ENST00000682755.1:c.2974T>A	ENSP00000507660.1:p.Ser992Thr
ENST00000682989.1:c.*287T>A	ENSP00000507786.1:n.*287T>A
ENST00000683039.1:c.3196T>A	ENSP00000508303.1:p.Ser1066Thr
ENST00000683235.1:c.*611T>A	ENSP00000507646.1:n.*611T>A
ENST00000683535.1:n.1326T>A
ENST00000684584.1:c.2359T>A	ENSP00000508044.1:p.Ser787Thr
ENST00000684626.1:n.1442T>A
ENST00000684769.1:c.1386T>A	ENSP00000507691.1:n.1386T>A
ENST00000259008.7:c.3196T>A MANE Select	ENSP00000259008.2:p.Ser1066Thr
ENST00000259008.6:c.3196T>A	ENSP00000259008.2:p.Ser1066Thr
NM_032043.2:c.3196T>A , LRG_300t1:c.3196T>A	NP_114432.2:p.Ser1066Thr
XM_011525332.1:c.3256T>A	XP_011523634.1:p.Ser1086Thr
XM_011525333.1:c.3256T>A	XP_011523635.1:p.Ser1086Thr
XM_011525334.1:c.3256T>A	XP_011523636.1:p.Ser1086Thr
XM_011525335.1:c.3196T>A	XP_011523637.1:p.Ser1066Thr
XM_011525336.1:c.3136T>A	XP_011523638.1:p.Ser1046Thr
XM_011525337.1:c.3055T>A	XP_011523639.1:p.Ser1019Thr
XM_011525338.1:c.2773T>A	XP_011523640.1:p.Ser925Thr
XM_011525332.3:c.3256T>A	XP_011523634.1:p.Ser1086Thr
XM_011525333.3:c.3256T>A	XP_011523635.1:p.Ser1086Thr
XM_011525334.2:c.3256T>A	XP_011523636.1:p.Ser1086Thr
XM_011525335.3:c.3196T>A	XP_011523637.1:p.Ser1066Thr
XM_011525336.2:c.3136T>A	XP_011523638.1:p.Ser1046Thr
XM_011525337.2:c.3055T>A	XP_011523639.1:p.Ser1019Thr
XM_011525338.2:c.2773T>A	XP_011523640.1:p.Ser925Thr
XM_017025200.1:c.2713T>A	XP_016880689.1:p.Ser905Thr
XM_017025201.1:c.2713T>A	XP_016880690.1:p.Ser905Thr
XM_017025202.1:c.1342T>A	XP_016880691.1:p.Ser448Thr
XM_017025203.1:c.1342T>A	XP_016880692.1:p.Ser448Thr
NM_032043.3:c.3196T>A MANE Select	NP_114432.2:p.Ser1066Thr