Canonical Allele Identifier: CA2269130967
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683748C= , CM000679.2:g.61683748C= GRCh38
NC_000017.10:g.59761109C= , CM000679.1:g.59761109C= GRCh37
NC_000017.9:g.57115891C= NCBI36
NG_007409.2:g.184812G= , LRG_300:g.184812G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2038G=
ENST00000682453.1:c.3298G= ENSP00000506943.1:p.Asp1100=
ENST00000682477.1:c.*2724G= ENSP00000507075.1:n.*2724G=
ENST00000682589.1:n.9175G=
ENST00000682755.1:c.3076G= ENSP00000507660.1:p.Asp1026=
ENST00000682989.1:c.*389G= ENSP00000507786.1:n.*389G=
ENST00000683039.1:c.3298G= ENSP00000508303.1:p.Asp1100=
ENST00000683235.1:c.*713G= ENSP00000507646.1:n.*713G=
ENST00000683535.1:n.1428G=
ENST00000684584.1:c.2461G= ENSP00000508044.1:p.Asp821=
ENST00000684626.1:n.1544G=
ENST00000684769.1:c.1488G= ENSP00000507691.1:n.1488G=
ENST00000259008.7:c.3298G= MANE Select ENSP00000259008.2:p.Asp1100=
ENST00000259008.6:c.3298G= ENSP00000259008.2:p.Asp1100=
NM_032043.2:c.3298G= , LRG_300t1:c.3298G= NP_114432.2:p.Asp1100=
XM_011525332.1:c.3358G= XP_011523634.1:p.Asp1120=
XM_011525333.1:c.3358G= XP_011523635.1:p.Asp1120=
XM_011525334.1:c.3358G= XP_011523636.1:p.Asp1120=
XM_011525335.1:c.3298G= XP_011523637.1:p.Asp1100=
XM_011525336.1:c.3238G= XP_011523638.1:p.Asp1080=
XM_011525337.1:c.3157G= XP_011523639.1:p.Asp1053=
XM_011525338.1:c.2875G= XP_011523640.1:p.Asp959=
XM_011525332.3:c.3358G= XP_011523634.1:p.Asp1120=
XM_011525333.3:c.3358G= XP_011523635.1:p.Asp1120=
XM_011525334.2:c.3358G= XP_011523636.1:p.Asp1120=
XM_011525335.3:c.3298G= XP_011523637.1:p.Asp1100=
XM_011525336.2:c.3238G= XP_011523638.1:p.Asp1080=
XM_011525337.2:c.3157G= XP_011523639.1:p.Asp1053=
XM_011525338.2:c.2875G= XP_011523640.1:p.Asp959=
XM_017025200.1:c.2815G= XP_016880689.1:p.Asp939=
XM_017025201.1:c.2815G= XP_016880690.1:p.Asp939=
XM_017025202.1:c.1444G= XP_016880691.1:p.Asp482=
XM_017025203.1:c.1444G= XP_016880692.1:p.Asp482=
NM_032043.3:c.3298G= MANE Select NP_114432.2:p.Asp1100=