Canonical Allele Identifier: CA2269130818
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683502C= , CM000679.2:g.61683502C= GRCh38
NC_000017.10:g.59760863C= , CM000679.1:g.59760863C= GRCh37
NC_000017.9:g.57115645C= NCBI36
NG_007409.2:g.185058G= , LRG_300:g.185058G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2284G=
ENST00000682453.1:c.3544G= ENSP00000506943.1:p.Ala1182=
ENST00000682477.1:c.*2970G= ENSP00000507075.1:n.*2970G=
ENST00000682589.1:n.9421G=
ENST00000682755.1:c.3322G= ENSP00000507660.1:p.Ala1108=
ENST00000682989.1:c.*635G= ENSP00000507786.1:n.*635G=
ENST00000683039.1:c.3544G= ENSP00000508303.1:p.Ala1182=
ENST00000683235.1:c.*959G= ENSP00000507646.1:n.*959G=
ENST00000683535.1:n.1674G=
ENST00000684584.1:c.2707G= ENSP00000508044.1:p.Ala903=
ENST00000684626.1:n.1790G=
ENST00000684769.1:c.1734G= ENSP00000507691.1:n.1734G=
ENST00000259008.7:c.3544G= MANE Select ENSP00000259008.2:p.Ala1182=
ENST00000259008.6:c.3544G= ENSP00000259008.2:p.Ala1182=
NM_032043.2:c.3544G= , LRG_300t1:c.3544G= NP_114432.2:p.Ala1182=
XM_011525332.1:c.3604G= XP_011523634.1:p.Ala1202=
XM_011525333.1:c.3604G= XP_011523635.1:p.Ala1202=
XM_011525334.1:c.3604G= XP_011523636.1:p.Ala1202=
XM_011525335.1:c.3544G= XP_011523637.1:p.Ala1182=
XM_011525336.1:c.3484G= XP_011523638.1:p.Ala1162=
XM_011525337.1:c.3403G= XP_011523639.1:p.Ala1135=
XM_011525338.1:c.3121G= XP_011523640.1:p.Ala1041=
XM_011525332.3:c.3604G= XP_011523634.1:p.Ala1202=
XM_011525333.3:c.3604G= XP_011523635.1:p.Ala1202=
XM_011525334.2:c.3604G= XP_011523636.1:p.Ala1202=
XM_011525335.3:c.3544G= XP_011523637.1:p.Ala1182=
XM_011525336.2:c.3484G= XP_011523638.1:p.Ala1162=
XM_011525337.2:c.3403G= XP_011523639.1:p.Ala1135=
XM_011525338.2:c.3121G= XP_011523640.1:p.Ala1041=
XM_017025200.1:c.3061G= XP_016880689.1:p.Ala1021=
XM_017025201.1:c.3061G= XP_016880690.1:p.Ala1021=
XM_017025202.1:c.1690G= XP_016880691.1:p.Ala564=
XM_017025203.1:c.1690G= XP_016880692.1:p.Ala564=
NM_032043.3:c.3544G= MANE Select NP_114432.2:p.Ala1182=