Canonical Allele Identifier: CA400479806

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683960C>T , CM000679.2:g.61683960C>T	GRCh38
NC_000017.10:g.59761321C>T , CM000679.1:g.59761321C>T	GRCh37
NC_000017.9:g.57116103C>T	NCBI36
NG_007409.2:g.184600G>A , LRG_300:g.184600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1826G>A
ENST00000682453.1:c.3086G>A	ENSP00000506943.1:p.Ser1029Asn
ENST00000682477.1:c.*2512G>A	ENSP00000507075.1:n.*2512G>A
ENST00000682589.1:n.8963G>A
ENST00000682755.1:c.2864G>A	ENSP00000507660.1:p.Ser955Asn
ENST00000682989.1:c.*177G>A	ENSP00000507786.1:n.*177G>A
ENST00000683039.1:c.3086G>A	ENSP00000508303.1:p.Ser1029Asn
ENST00000683235.1:c.*501G>A	ENSP00000507646.1:n.*501G>A
ENST00000683535.1:n.1216G>A
ENST00000684584.1:c.2249G>A	ENSP00000508044.1:p.Ser750Asn
ENST00000684626.1:n.1332G>A
ENST00000684769.1:c.1276G>A	ENSP00000507691.1:n.1276G>A
ENST00000259008.7:c.3086G>A MANE Select	ENSP00000259008.2:p.Ser1029Asn
ENST00000259008.6:c.3086G>A	ENSP00000259008.2:p.Ser1029Asn
NM_032043.2:c.3086G>A , LRG_300t1:c.3086G>A	NP_114432.2:p.Ser1029Asn
XM_011525332.1:c.3146G>A	XP_011523634.1:p.Ser1049Asn
XM_011525333.1:c.3146G>A	XP_011523635.1:p.Ser1049Asn
XM_011525334.1:c.3146G>A	XP_011523636.1:p.Ser1049Asn
XM_011525335.1:c.3086G>A	XP_011523637.1:p.Ser1029Asn
XM_011525336.1:c.3026G>A	XP_011523638.1:p.Ser1009Asn
XM_011525337.1:c.2945G>A	XP_011523639.1:p.Ser982Asn
XM_011525338.1:c.2663G>A	XP_011523640.1:p.Ser888Asn
XM_011525332.3:c.3146G>A	XP_011523634.1:p.Ser1049Asn
XM_011525333.3:c.3146G>A	XP_011523635.1:p.Ser1049Asn
XM_011525334.2:c.3146G>A	XP_011523636.1:p.Ser1049Asn
XM_011525335.3:c.3086G>A	XP_011523637.1:p.Ser1029Asn
XM_011525336.2:c.3026G>A	XP_011523638.1:p.Ser1009Asn
XM_011525337.2:c.2945G>A	XP_011523639.1:p.Ser982Asn
XM_011525338.2:c.2663G>A	XP_011523640.1:p.Ser888Asn
XM_017025200.1:c.2603G>A	XP_016880689.1:p.Ser868Asn
XM_017025201.1:c.2603G>A	XP_016880690.1:p.Ser868Asn
XM_017025202.1:c.1232G>A	XP_016880691.1:p.Ser411Asn
XM_017025203.1:c.1232G>A	XP_016880692.1:p.Ser411Asn
NM_032043.3:c.3086G>A MANE Select	NP_114432.2:p.Ser1029Asn