Canonical Allele Identifier: CA2269130864
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683585C= , CM000679.2:g.61683585C= GRCh38
NC_000017.10:g.59760946C= , CM000679.1:g.59760946C= GRCh37
NC_000017.9:g.57115728C= NCBI36
NG_007409.2:g.184975G= , LRG_300:g.184975G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2201G=
ENST00000682453.1:c.3461G= ENSP00000506943.1:p.Arg1154=
ENST00000682477.1:c.*2887G= ENSP00000507075.1:n.*2887G=
ENST00000682589.1:n.9338G=
ENST00000682755.1:c.3239G= ENSP00000507660.1:p.Arg1080=
ENST00000682989.1:c.*552G= ENSP00000507786.1:n.*552G=
ENST00000683039.1:c.3461G= ENSP00000508303.1:p.Arg1154=
ENST00000683235.1:c.*876G= ENSP00000507646.1:n.*876G=
ENST00000683535.1:n.1591G=
ENST00000684584.1:c.2624G= ENSP00000508044.1:p.Arg875=
ENST00000684626.1:n.1707G=
ENST00000684769.1:c.1651G= ENSP00000507691.1:n.1651G=
ENST00000259008.7:c.3461G= MANE Select ENSP00000259008.2:p.Arg1154=
ENST00000259008.6:c.3461G= ENSP00000259008.2:p.Arg1154=
NM_032043.2:c.3461G= , LRG_300t1:c.3461G= NP_114432.2:p.Arg1154=
XM_011525332.1:c.3521G= XP_011523634.1:p.Arg1174=
XM_011525333.1:c.3521G= XP_011523635.1:p.Arg1174=
XM_011525334.1:c.3521G= XP_011523636.1:p.Arg1174=
XM_011525335.1:c.3461G= XP_011523637.1:p.Arg1154=
XM_011525336.1:c.3401G= XP_011523638.1:p.Arg1134=
XM_011525337.1:c.3320G= XP_011523639.1:p.Arg1107=
XM_011525338.1:c.3038G= XP_011523640.1:p.Arg1013=
XM_011525332.3:c.3521G= XP_011523634.1:p.Arg1174=
XM_011525333.3:c.3521G= XP_011523635.1:p.Arg1174=
XM_011525334.2:c.3521G= XP_011523636.1:p.Arg1174=
XM_011525335.3:c.3461G= XP_011523637.1:p.Arg1154=
XM_011525336.2:c.3401G= XP_011523638.1:p.Arg1134=
XM_011525337.2:c.3320G= XP_011523639.1:p.Arg1107=
XM_011525338.2:c.3038G= XP_011523640.1:p.Arg1013=
XM_017025200.1:c.2978G= XP_016880689.1:p.Arg993=
XM_017025201.1:c.2978G= XP_016880690.1:p.Arg993=
XM_017025202.1:c.1607G= XP_016880691.1:p.Arg536=
XM_017025203.1:c.1607G= XP_016880692.1:p.Arg536=
NM_032043.3:c.3461G= MANE Select NP_114432.2:p.Arg1154=