Canonical Allele Identifier: CA2269130822
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683508C= , CM000679.2:g.61683508C= GRCh38
NC_000017.10:g.59760869C= , CM000679.1:g.59760869C= GRCh37
NC_000017.9:g.57115651C= NCBI36
NG_007409.2:g.185052G= , LRG_300:g.185052G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2278G=
ENST00000682453.1:c.3538G= ENSP00000506943.1:p.Asp1180=
ENST00000682477.1:c.*2964G= ENSP00000507075.1:n.*2964G=
ENST00000682589.1:n.9415G=
ENST00000682755.1:c.3316G= ENSP00000507660.1:p.Asp1106=
ENST00000682989.1:c.*629G= ENSP00000507786.1:n.*629G=
ENST00000683039.1:c.3538G= ENSP00000508303.1:p.Asp1180=
ENST00000683235.1:c.*953G= ENSP00000507646.1:n.*953G=
ENST00000683535.1:n.1668G=
ENST00000684584.1:c.2701G= ENSP00000508044.1:p.Asp901=
ENST00000684626.1:n.1784G=
ENST00000684769.1:c.1728G= ENSP00000507691.1:n.1728G=
ENST00000259008.7:c.3538G= MANE Select ENSP00000259008.2:p.Asp1180=
ENST00000259008.6:c.3538G= ENSP00000259008.2:p.Asp1180=
NM_032043.2:c.3538G= , LRG_300t1:c.3538G= NP_114432.2:p.Asp1180=
XM_011525332.1:c.3598G= XP_011523634.1:p.Asp1200=
XM_011525333.1:c.3598G= XP_011523635.1:p.Asp1200=
XM_011525334.1:c.3598G= XP_011523636.1:p.Asp1200=
XM_011525335.1:c.3538G= XP_011523637.1:p.Asp1180=
XM_011525336.1:c.3478G= XP_011523638.1:p.Asp1160=
XM_011525337.1:c.3397G= XP_011523639.1:p.Asp1133=
XM_011525338.1:c.3115G= XP_011523640.1:p.Asp1039=
XM_011525332.3:c.3598G= XP_011523634.1:p.Asp1200=
XM_011525333.3:c.3598G= XP_011523635.1:p.Asp1200=
XM_011525334.2:c.3598G= XP_011523636.1:p.Asp1200=
XM_011525335.3:c.3538G= XP_011523637.1:p.Asp1180=
XM_011525336.2:c.3478G= XP_011523638.1:p.Asp1160=
XM_011525337.2:c.3397G= XP_011523639.1:p.Asp1133=
XM_011525338.2:c.3115G= XP_011523640.1:p.Asp1039=
XM_017025200.1:c.3055G= XP_016880689.1:p.Asp1019=
XM_017025201.1:c.3055G= XP_016880690.1:p.Asp1019=
XM_017025202.1:c.1684G= XP_016880691.1:p.Asp562=
XM_017025203.1:c.1684G= XP_016880692.1:p.Asp562=
NM_032043.3:c.3538G= MANE Select NP_114432.2:p.Asp1180=