Canonical Allele Identifier: CA163764
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684021C>T , CM000679.2:g.61684021C>T GRCh38
NC_000017.10:g.59761382C>T , CM000679.1:g.59761382C>T GRCh37
NC_000017.9:g.57116164C>T NCBI36
NG_007409.2:g.184539G>A , LRG_300:g.184539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1765G>A
ENST00000682453.1:c.3025G>A ENSP00000506943.1:p.Gly1009Arg
ENST00000682477.1:c.*2451G>A ENSP00000507075.1:n.*2451G>A
ENST00000682589.1:n.8902G>A
ENST00000682755.1:c.2803G>A ENSP00000507660.1:p.Gly935Arg
ENST00000682989.1:c.*116G>A ENSP00000507786.1:n.*116G>A
ENST00000683039.1:c.3025G>A ENSP00000508303.1:p.Gly1009Arg
ENST00000683235.1:c.*440G>A ENSP00000507646.1:n.*440G>A
ENST00000683535.1:n.1155G>A
ENST00000684584.1:c.2188G>A ENSP00000508044.1:p.Gly730Arg
ENST00000684626.1:n.1271G>A
ENST00000684769.1:c.1215G>A ENSP00000507691.1:n.1215G>A
ENST00000259008.7:c.3025G>A MANE Select ENSP00000259008.2:p.Gly1009Arg
ENST00000259008.6:c.3025G>A ENSP00000259008.2:p.Gly1009Arg
NM_032043.2:c.3025G>A , LRG_300t1:c.3025G>A NP_114432.2:p.Gly1009Arg
XM_011525332.1:c.3085G>A XP_011523634.1:p.Gly1029Arg
XM_011525333.1:c.3085G>A XP_011523635.1:p.Gly1029Arg
XM_011525334.1:c.3085G>A XP_011523636.1:p.Gly1029Arg
XM_011525335.1:c.3025G>A XP_011523637.1:p.Gly1009Arg
XM_011525336.1:c.2965G>A XP_011523638.1:p.Gly989Arg
XM_011525337.1:c.2884G>A XP_011523639.1:p.Gly962Arg
XM_011525338.1:c.2602G>A XP_011523640.1:p.Gly868Arg
XM_011525332.3:c.3085G>A XP_011523634.1:p.Gly1029Arg
XM_011525333.3:c.3085G>A XP_011523635.1:p.Gly1029Arg
XM_011525334.2:c.3085G>A XP_011523636.1:p.Gly1029Arg
XM_011525335.3:c.3025G>A XP_011523637.1:p.Gly1009Arg
XM_011525336.2:c.2965G>A XP_011523638.1:p.Gly989Arg
XM_011525337.2:c.2884G>A XP_011523639.1:p.Gly962Arg
XM_011525338.2:c.2602G>A XP_011523640.1:p.Gly868Arg
XM_017025200.1:c.2542G>A XP_016880689.1:p.Gly848Arg
XM_017025201.1:c.2542G>A XP_016880690.1:p.Gly848Arg
XM_017025202.1:c.1171G>A XP_016880691.1:p.Gly391Arg
XM_017025203.1:c.1171G>A XP_016880692.1:p.Gly391Arg
NM_032043.3:c.3025G>A MANE Select NP_114432.2:p.Gly1009Arg