Canonical Allele Identifier: CA400478937

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2006033
• ClinVar RCV Id: RCV002825660
• dbSNP Id: rs1567728281
• MyVariant Identifiers: chr17:g.59761064A>T (hg19) ; chr17:g.61683703A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683703A>T , CM000679.2:g.61683703A>T	GRCh38
NC_000017.10:g.59761064A>T , CM000679.1:g.59761064A>T	GRCh37
NC_000017.9:g.57115846A>T	NCBI36
NG_007409.2:g.184857T>A , LRG_300:g.184857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2083T>A
ENST00000682453.1:c.3343T>A	ENSP00000506943.1:p.Ser1115Thr
ENST00000682477.1:c.*2769T>A	ENSP00000507075.1:n.*2769T>A
ENST00000682589.1:n.9220T>A
ENST00000682755.1:c.3121T>A	ENSP00000507660.1:p.Ser1041Thr
ENST00000682989.1:c.*434T>A	ENSP00000507786.1:n.*434T>A
ENST00000683039.1:c.3343T>A	ENSP00000508303.1:p.Ser1115Thr
ENST00000683235.1:c.*758T>A	ENSP00000507646.1:n.*758T>A
ENST00000683535.1:n.1473T>A
ENST00000684584.1:c.2506T>A	ENSP00000508044.1:p.Ser836Thr
ENST00000684626.1:n.1589T>A
ENST00000684769.1:c.1533T>A	ENSP00000507691.1:n.1533T>A
ENST00000259008.7:c.3343T>A MANE Select	ENSP00000259008.2:p.Ser1115Thr
ENST00000259008.6:c.3343T>A	ENSP00000259008.2:p.Ser1115Thr
NM_032043.2:c.3343T>A , LRG_300t1:c.3343T>A	NP_114432.2:p.Ser1115Thr
XM_011525332.1:c.3403T>A	XP_011523634.1:p.Ser1135Thr
XM_011525333.1:c.3403T>A	XP_011523635.1:p.Ser1135Thr
XM_011525334.1:c.3403T>A	XP_011523636.1:p.Ser1135Thr
XM_011525335.1:c.3343T>A	XP_011523637.1:p.Ser1115Thr
XM_011525336.1:c.3283T>A	XP_011523638.1:p.Ser1095Thr
XM_011525337.1:c.3202T>A	XP_011523639.1:p.Ser1068Thr
XM_011525338.1:c.2920T>A	XP_011523640.1:p.Ser974Thr
XM_011525332.3:c.3403T>A	XP_011523634.1:p.Ser1135Thr
XM_011525333.3:c.3403T>A	XP_011523635.1:p.Ser1135Thr
XM_011525334.2:c.3403T>A	XP_011523636.1:p.Ser1135Thr
XM_011525335.3:c.3343T>A	XP_011523637.1:p.Ser1115Thr
XM_011525336.2:c.3283T>A	XP_011523638.1:p.Ser1095Thr
XM_011525337.2:c.3202T>A	XP_011523639.1:p.Ser1068Thr
XM_011525338.2:c.2920T>A	XP_011523640.1:p.Ser974Thr
XM_017025200.1:c.2860T>A	XP_016880689.1:p.Ser954Thr
XM_017025201.1:c.2860T>A	XP_016880690.1:p.Ser954Thr
XM_017025202.1:c.1489T>A	XP_016880691.1:p.Ser497Thr
XM_017025203.1:c.1489T>A	XP_016880692.1:p.Ser497Thr
NM_032043.3:c.3343T>A MANE Select	NP_114432.2:p.Ser1115Thr