Canonical Allele Identifier: CA2269130782
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683444A= , CM000679.2:g.61683444A= GRCh38
NC_000017.10:g.59760805A= , CM000679.1:g.59760805A= GRCh37
NC_000017.9:g.57115587A= NCBI36
NG_007409.2:g.185116T= , LRG_300:g.185116T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2342T=
ENST00000682453.1:c.3602T= ENSP00000506943.1:p.Ile1201=
ENST00000682477.1:c.*3028T= ENSP00000507075.1:n.*3028T=
ENST00000682589.1:n.9479T=
ENST00000682755.1:c.3380T= ENSP00000507660.1:p.Ile1127=
ENST00000682989.1:c.*693T= ENSP00000507786.1:n.*693T=
ENST00000683039.1:c.3602T= ENSP00000508303.1:p.Ile1201=
ENST00000683235.1:c.*1017T= ENSP00000507646.1:n.*1017T=
ENST00000683535.1:n.1732T=
ENST00000684584.1:c.2765T= ENSP00000508044.1:p.Ile922=
ENST00000684626.1:n.1848T=
ENST00000684769.1:c.1792T= ENSP00000507691.1:n.1792T=
ENST00000259008.7:c.3602T= MANE Select ENSP00000259008.2:p.Ile1201=
ENST00000259008.6:c.3602T= ENSP00000259008.2:p.Ile1201=
NM_032043.2:c.3602T= , LRG_300t1:c.3602T= NP_114432.2:p.Ile1201=
XM_011525332.1:c.3662T= XP_011523634.1:p.Ile1221=
XM_011525333.1:c.3662T= XP_011523635.1:p.Ile1221=
XM_011525334.1:c.3662T= XP_011523636.1:p.Ile1221=
XM_011525335.1:c.3602T= XP_011523637.1:p.Ile1201=
XM_011525336.1:c.3542T= XP_011523638.1:p.Ile1181=
XM_011525337.1:c.3461T= XP_011523639.1:p.Ile1154=
XM_011525338.1:c.3179T= XP_011523640.1:p.Ile1060=
XM_011525332.3:c.3662T= XP_011523634.1:p.Ile1221=
XM_011525333.3:c.3662T= XP_011523635.1:p.Ile1221=
XM_011525334.2:c.3662T= XP_011523636.1:p.Ile1221=
XM_011525335.3:c.3602T= XP_011523637.1:p.Ile1201=
XM_011525336.2:c.3542T= XP_011523638.1:p.Ile1181=
XM_011525337.2:c.3461T= XP_011523639.1:p.Ile1154=
XM_011525338.2:c.3179T= XP_011523640.1:p.Ile1060=
XM_017025200.1:c.3119T= XP_016880689.1:p.Ile1040=
XM_017025201.1:c.3119T= XP_016880690.1:p.Ile1040=
XM_017025202.1:c.1748T= XP_016880691.1:p.Ile583=
XM_017025203.1:c.1748T= XP_016880692.1:p.Ile583=
NM_032043.3:c.3602T= MANE Select NP_114432.2:p.Ile1201=