Canonical Allele Identifier: CA2269130963
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683742C= , CM000679.2:g.61683742C= GRCh38
NC_000017.10:g.59761103C= , CM000679.1:g.59761103C= GRCh37
NC_000017.9:g.57115885C= NCBI36
NG_007409.2:g.184818G= , LRG_300:g.184818G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2044G=
ENST00000682453.1:c.3304G= ENSP00000506943.1:p.Asp1102=
ENST00000682477.1:c.*2730G= ENSP00000507075.1:n.*2730G=
ENST00000682589.1:n.9181G=
ENST00000682755.1:c.3082G= ENSP00000507660.1:p.Asp1028=
ENST00000682989.1:c.*395G= ENSP00000507786.1:n.*395G=
ENST00000683039.1:c.3304G= ENSP00000508303.1:p.Asp1102=
ENST00000683235.1:c.*719G= ENSP00000507646.1:n.*719G=
ENST00000683535.1:n.1434G=
ENST00000684584.1:c.2467G= ENSP00000508044.1:p.Asp823=
ENST00000684626.1:n.1550G=
ENST00000684769.1:c.1494G= ENSP00000507691.1:n.1494G=
ENST00000259008.7:c.3304G= MANE Select ENSP00000259008.2:p.Asp1102=
ENST00000259008.6:c.3304G= ENSP00000259008.2:p.Asp1102=
NM_032043.2:c.3304G= , LRG_300t1:c.3304G= NP_114432.2:p.Asp1102=
XM_011525332.1:c.3364G= XP_011523634.1:p.Asp1122=
XM_011525333.1:c.3364G= XP_011523635.1:p.Asp1122=
XM_011525334.1:c.3364G= XP_011523636.1:p.Asp1122=
XM_011525335.1:c.3304G= XP_011523637.1:p.Asp1102=
XM_011525336.1:c.3244G= XP_011523638.1:p.Asp1082=
XM_011525337.1:c.3163G= XP_011523639.1:p.Asp1055=
XM_011525338.1:c.2881G= XP_011523640.1:p.Asp961=
XM_011525332.3:c.3364G= XP_011523634.1:p.Asp1122=
XM_011525333.3:c.3364G= XP_011523635.1:p.Asp1122=
XM_011525334.2:c.3364G= XP_011523636.1:p.Asp1122=
XM_011525335.3:c.3304G= XP_011523637.1:p.Asp1102=
XM_011525336.2:c.3244G= XP_011523638.1:p.Asp1082=
XM_011525337.2:c.3163G= XP_011523639.1:p.Asp1055=
XM_011525338.2:c.2881G= XP_011523640.1:p.Asp961=
XM_017025200.1:c.2821G= XP_016880689.1:p.Asp941=
XM_017025201.1:c.2821G= XP_016880690.1:p.Asp941=
XM_017025202.1:c.1450G= XP_016880691.1:p.Asp484=
XM_017025203.1:c.1450G= XP_016880692.1:p.Asp484=
NM_032043.3:c.3304G= MANE Select NP_114432.2:p.Asp1102=