Canonical Allele Identifier: CA2269130780
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683443A= , CM000679.2:g.61683443A= GRCh38
NC_000017.10:g.59760804A= , CM000679.1:g.59760804A= GRCh37
NC_000017.9:g.57115586A= NCBI36
NG_007409.2:g.185117T= , LRG_300:g.185117T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2343T=
ENST00000682453.1:c.3603T= ENSP00000506943.1:p.Ile1201=
ENST00000682477.1:c.*3029T= ENSP00000507075.1:n.*3029T=
ENST00000682589.1:n.9480T=
ENST00000682755.1:c.3381T= ENSP00000507660.1:p.Ile1127=
ENST00000682989.1:c.*694T= ENSP00000507786.1:n.*694T=
ENST00000683039.1:c.3603T= ENSP00000508303.1:p.Ile1201=
ENST00000683235.1:c.*1018T= ENSP00000507646.1:n.*1018T=
ENST00000683535.1:n.1733T=
ENST00000684584.1:c.2766T= ENSP00000508044.1:p.Ile922=
ENST00000684626.1:n.1849T=
ENST00000684769.1:c.1793T= ENSP00000507691.1:n.1793T=
ENST00000259008.7:c.3603T= MANE Select ENSP00000259008.2:p.Ile1201=
ENST00000259008.6:c.3603T= ENSP00000259008.2:p.Ile1201=
NM_032043.2:c.3603T= , LRG_300t1:c.3603T= NP_114432.2:p.Ile1201=
XM_011525332.1:c.3663T= XP_011523634.1:p.Ile1221=
XM_011525333.1:c.3663T= XP_011523635.1:p.Ile1221=
XM_011525334.1:c.3663T= XP_011523636.1:p.Ile1221=
XM_011525335.1:c.3603T= XP_011523637.1:p.Ile1201=
XM_011525336.1:c.3543T= XP_011523638.1:p.Ile1181=
XM_011525337.1:c.3462T= XP_011523639.1:p.Ile1154=
XM_011525338.1:c.3180T= XP_011523640.1:p.Ile1060=
XM_011525332.3:c.3663T= XP_011523634.1:p.Ile1221=
XM_011525333.3:c.3663T= XP_011523635.1:p.Ile1221=
XM_011525334.2:c.3663T= XP_011523636.1:p.Ile1221=
XM_011525335.3:c.3603T= XP_011523637.1:p.Ile1201=
XM_011525336.2:c.3543T= XP_011523638.1:p.Ile1181=
XM_011525337.2:c.3462T= XP_011523639.1:p.Ile1154=
XM_011525338.2:c.3180T= XP_011523640.1:p.Ile1060=
XM_017025200.1:c.3120T= XP_016880689.1:p.Ile1040=
XM_017025201.1:c.3120T= XP_016880690.1:p.Ile1040=
XM_017025202.1:c.1749T= XP_016880691.1:p.Ile583=
XM_017025203.1:c.1749T= XP_016880692.1:p.Ile583=
NM_032043.3:c.3603T= MANE Select NP_114432.2:p.Ile1201=