Canonical Allele Identifier: CA2269130883
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683617A= , CM000679.2:g.61683617A= GRCh38
NC_000017.10:g.59760978A= , CM000679.1:g.59760978A= GRCh37
NC_000017.9:g.57115760A= NCBI36
NG_007409.2:g.184943T= , LRG_300:g.184943T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2169T=
ENST00000682453.1:c.3429T= ENSP00000506943.1:p.Asp1143=
ENST00000682477.1:c.*2855T= ENSP00000507075.1:n.*2855T=
ENST00000682589.1:n.9306T=
ENST00000682755.1:c.3207T= ENSP00000507660.1:p.Asp1069=
ENST00000682989.1:c.*520T= ENSP00000507786.1:n.*520T=
ENST00000683039.1:c.3429T= ENSP00000508303.1:p.Asp1143=
ENST00000683235.1:c.*844T= ENSP00000507646.1:n.*844T=
ENST00000683535.1:n.1559T=
ENST00000684584.1:c.2592T= ENSP00000508044.1:p.Asp864=
ENST00000684626.1:n.1675T=
ENST00000684769.1:c.1619T= ENSP00000507691.1:n.1619T=
ENST00000259008.7:c.3429T= MANE Select ENSP00000259008.2:p.Asp1143=
ENST00000259008.6:c.3429T= ENSP00000259008.2:p.Asp1143=
NM_032043.2:c.3429T= , LRG_300t1:c.3429T= NP_114432.2:p.Asp1143=
XM_011525332.1:c.3489T= XP_011523634.1:p.Asp1163=
XM_011525333.1:c.3489T= XP_011523635.1:p.Asp1163=
XM_011525334.1:c.3489T= XP_011523636.1:p.Asp1163=
XM_011525335.1:c.3429T= XP_011523637.1:p.Asp1143=
XM_011525336.1:c.3369T= XP_011523638.1:p.Asp1123=
XM_011525337.1:c.3288T= XP_011523639.1:p.Asp1096=
XM_011525338.1:c.3006T= XP_011523640.1:p.Asp1002=
XM_011525332.3:c.3489T= XP_011523634.1:p.Asp1163=
XM_011525333.3:c.3489T= XP_011523635.1:p.Asp1163=
XM_011525334.2:c.3489T= XP_011523636.1:p.Asp1163=
XM_011525335.3:c.3429T= XP_011523637.1:p.Asp1143=
XM_011525336.2:c.3369T= XP_011523638.1:p.Asp1123=
XM_011525337.2:c.3288T= XP_011523639.1:p.Asp1096=
XM_011525338.2:c.3006T= XP_011523640.1:p.Asp1002=
XM_017025200.1:c.2946T= XP_016880689.1:p.Asp982=
XM_017025201.1:c.2946T= XP_016880690.1:p.Asp982=
XM_017025202.1:c.1575T= XP_016880691.1:p.Asp525=
XM_017025203.1:c.1575T= XP_016880692.1:p.Asp525=
NM_032043.3:c.3429T= MANE Select NP_114432.2:p.Asp1143=