Canonical Allele Identifier: CA2269130910
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683656G= , CM000679.2:g.61683656G= GRCh38
NC_000017.10:g.59761017G= , CM000679.1:g.59761017G= GRCh37
NC_000017.9:g.57115799G= NCBI36
NG_007409.2:g.184904C= , LRG_300:g.184904C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2130C=
ENST00000682453.1:c.3390C= ENSP00000506943.1:p.Ile1130=
ENST00000682477.1:c.*2816C= ENSP00000507075.1:n.*2816C=
ENST00000682589.1:n.9267C=
ENST00000682755.1:c.3168C= ENSP00000507660.1:p.Ile1056=
ENST00000682989.1:c.*481C= ENSP00000507786.1:n.*481C=
ENST00000683039.1:c.3390C= ENSP00000508303.1:p.Ile1130=
ENST00000683235.1:c.*805C= ENSP00000507646.1:n.*805C=
ENST00000683535.1:n.1520C=
ENST00000684584.1:c.2553C= ENSP00000508044.1:p.Ile851=
ENST00000684626.1:n.1636C=
ENST00000684769.1:c.1580C= ENSP00000507691.1:n.1580C=
ENST00000259008.7:c.3390C= MANE Select ENSP00000259008.2:p.Ile1130=
ENST00000259008.6:c.3390C= ENSP00000259008.2:p.Ile1130=
NM_032043.2:c.3390C= , LRG_300t1:c.3390C= NP_114432.2:p.Ile1130=
XM_011525332.1:c.3450C= XP_011523634.1:p.Ile1150=
XM_011525333.1:c.3450C= XP_011523635.1:p.Ile1150=
XM_011525334.1:c.3450C= XP_011523636.1:p.Ile1150=
XM_011525335.1:c.3390C= XP_011523637.1:p.Ile1130=
XM_011525336.1:c.3330C= XP_011523638.1:p.Ile1110=
XM_011525337.1:c.3249C= XP_011523639.1:p.Ile1083=
XM_011525338.1:c.2967C= XP_011523640.1:p.Ile989=
XM_011525332.3:c.3450C= XP_011523634.1:p.Ile1150=
XM_011525333.3:c.3450C= XP_011523635.1:p.Ile1150=
XM_011525334.2:c.3450C= XP_011523636.1:p.Ile1150=
XM_011525335.3:c.3390C= XP_011523637.1:p.Ile1130=
XM_011525336.2:c.3330C= XP_011523638.1:p.Ile1110=
XM_011525337.2:c.3249C= XP_011523639.1:p.Ile1083=
XM_011525338.2:c.2967C= XP_011523640.1:p.Ile989=
XM_017025200.1:c.2907C= XP_016880689.1:p.Ile969=
XM_017025201.1:c.2907C= XP_016880690.1:p.Ile969=
XM_017025202.1:c.1536C= XP_016880691.1:p.Ile512=
XM_017025203.1:c.1536C= XP_016880692.1:p.Ile512=
NM_032043.3:c.3390C= MANE Select NP_114432.2:p.Ile1130=