Canonical Allele Identifier: CA2269130975
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683761A= , CM000679.2:g.61683761A= GRCh38
NC_000017.10:g.59761122A= , CM000679.1:g.59761122A= GRCh37
NC_000017.9:g.57115904A= NCBI36
NG_007409.2:g.184799T= , LRG_300:g.184799T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2025T=
ENST00000682453.1:c.3285T= ENSP00000506943.1:p.Ser1095=
ENST00000682477.1:c.*2711T= ENSP00000507075.1:n.*2711T=
ENST00000682589.1:n.9162T=
ENST00000682755.1:c.3063T= ENSP00000507660.1:p.Ser1021=
ENST00000682989.1:c.*376T= ENSP00000507786.1:n.*376T=
ENST00000683039.1:c.3285T= ENSP00000508303.1:p.Ser1095=
ENST00000683235.1:c.*700T= ENSP00000507646.1:n.*700T=
ENST00000683535.1:n.1415T=
ENST00000684584.1:c.2448T= ENSP00000508044.1:p.Ser816=
ENST00000684626.1:n.1531T=
ENST00000684769.1:c.1475T= ENSP00000507691.1:n.1475T=
ENST00000259008.7:c.3285T= MANE Select ENSP00000259008.2:p.Ser1095=
ENST00000259008.6:c.3285T= ENSP00000259008.2:p.Ser1095=
NM_032043.2:c.3285T= , LRG_300t1:c.3285T= NP_114432.2:p.Ser1095=
XM_011525332.1:c.3345T= XP_011523634.1:p.Ser1115=
XM_011525333.1:c.3345T= XP_011523635.1:p.Ser1115=
XM_011525334.1:c.3345T= XP_011523636.1:p.Ser1115=
XM_011525335.1:c.3285T= XP_011523637.1:p.Ser1095=
XM_011525336.1:c.3225T= XP_011523638.1:p.Ser1075=
XM_011525337.1:c.3144T= XP_011523639.1:p.Ser1048=
XM_011525338.1:c.2862T= XP_011523640.1:p.Ser954=
XM_011525332.3:c.3345T= XP_011523634.1:p.Ser1115=
XM_011525333.3:c.3345T= XP_011523635.1:p.Ser1115=
XM_011525334.2:c.3345T= XP_011523636.1:p.Ser1115=
XM_011525335.3:c.3285T= XP_011523637.1:p.Ser1095=
XM_011525336.2:c.3225T= XP_011523638.1:p.Ser1075=
XM_011525337.2:c.3144T= XP_011523639.1:p.Ser1048=
XM_011525338.2:c.2862T= XP_011523640.1:p.Ser954=
XM_017025200.1:c.2802T= XP_016880689.1:p.Ser934=
XM_017025201.1:c.2802T= XP_016880690.1:p.Ser934=
XM_017025202.1:c.1431T= XP_016880691.1:p.Ser477=
XM_017025203.1:c.1431T= XP_016880692.1:p.Ser477=
NM_032043.3:c.3285T= MANE Select NP_114432.2:p.Ser1095=