Canonical Allele Identifier: CA2269130986
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683775G= , CM000679.2:g.61683775G= GRCh38
NC_000017.10:g.59761136G= , CM000679.1:g.59761136G= GRCh37
NC_000017.9:g.57115918G= NCBI36
NG_007409.2:g.184785C= , LRG_300:g.184785C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2011C=
ENST00000682453.1:c.3271C= ENSP00000506943.1:p.His1091=
ENST00000682477.1:c.*2697C= ENSP00000507075.1:n.*2697C=
ENST00000682589.1:n.9148C=
ENST00000682755.1:c.3049C= ENSP00000507660.1:p.His1017=
ENST00000682989.1:c.*362C= ENSP00000507786.1:n.*362C=
ENST00000683039.1:c.3271C= ENSP00000508303.1:p.His1091=
ENST00000683235.1:c.*686C= ENSP00000507646.1:n.*686C=
ENST00000683535.1:n.1401C=
ENST00000684584.1:c.2434C= ENSP00000508044.1:p.His812=
ENST00000684626.1:n.1517C=
ENST00000684769.1:c.1461C= ENSP00000507691.1:n.1461C=
ENST00000259008.7:c.3271C= MANE Select ENSP00000259008.2:p.His1091=
ENST00000259008.6:c.3271C= ENSP00000259008.2:p.His1091=
NM_032043.2:c.3271C= , LRG_300t1:c.3271C= NP_114432.2:p.His1091=
XM_011525332.1:c.3331C= XP_011523634.1:p.His1111=
XM_011525333.1:c.3331C= XP_011523635.1:p.His1111=
XM_011525334.1:c.3331C= XP_011523636.1:p.His1111=
XM_011525335.1:c.3271C= XP_011523637.1:p.His1091=
XM_011525336.1:c.3211C= XP_011523638.1:p.His1071=
XM_011525337.1:c.3130C= XP_011523639.1:p.His1044=
XM_011525338.1:c.2848C= XP_011523640.1:p.His950=
XM_011525332.3:c.3331C= XP_011523634.1:p.His1111=
XM_011525333.3:c.3331C= XP_011523635.1:p.His1111=
XM_011525334.2:c.3331C= XP_011523636.1:p.His1111=
XM_011525335.3:c.3271C= XP_011523637.1:p.His1091=
XM_011525336.2:c.3211C= XP_011523638.1:p.His1071=
XM_011525337.2:c.3130C= XP_011523639.1:p.His1044=
XM_011525338.2:c.2848C= XP_011523640.1:p.His950=
XM_017025200.1:c.2788C= XP_016880689.1:p.His930=
XM_017025201.1:c.2788C= XP_016880690.1:p.His930=
XM_017025202.1:c.1417C= XP_016880691.1:p.His473=
XM_017025203.1:c.1417C= XP_016880692.1:p.His473=
NM_032043.3:c.3271C= MANE Select NP_114432.2:p.His1091=