Canonical Allele Identifier: CA2269130866
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683587A= , CM000679.2:g.61683587A= GRCh38
NC_000017.10:g.59760948A= , CM000679.1:g.59760948A= GRCh37
NC_000017.9:g.57115730A= NCBI36
NG_007409.2:g.184973T= , LRG_300:g.184973T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2199T=
ENST00000682453.1:c.3459T= ENSP00000506943.1:p.Asp1153=
ENST00000682477.1:c.*2885T= ENSP00000507075.1:n.*2885T=
ENST00000682589.1:n.9336T=
ENST00000682755.1:c.3237T= ENSP00000507660.1:p.Asp1079=
ENST00000682989.1:c.*550T= ENSP00000507786.1:n.*550T=
ENST00000683039.1:c.3459T= ENSP00000508303.1:p.Asp1153=
ENST00000683235.1:c.*874T= ENSP00000507646.1:n.*874T=
ENST00000683535.1:n.1589T=
ENST00000684584.1:c.2622T= ENSP00000508044.1:p.Asp874=
ENST00000684626.1:n.1705T=
ENST00000684769.1:c.1649T= ENSP00000507691.1:n.1649T=
ENST00000259008.7:c.3459T= MANE Select ENSP00000259008.2:p.Asp1153=
ENST00000259008.6:c.3459T= ENSP00000259008.2:p.Asp1153=
NM_032043.2:c.3459T= , LRG_300t1:c.3459T= NP_114432.2:p.Asp1153=
XM_011525332.1:c.3519T= XP_011523634.1:p.Asp1173=
XM_011525333.1:c.3519T= XP_011523635.1:p.Asp1173=
XM_011525334.1:c.3519T= XP_011523636.1:p.Asp1173=
XM_011525335.1:c.3459T= XP_011523637.1:p.Asp1153=
XM_011525336.1:c.3399T= XP_011523638.1:p.Asp1133=
XM_011525337.1:c.3318T= XP_011523639.1:p.Asp1106=
XM_011525338.1:c.3036T= XP_011523640.1:p.Asp1012=
XM_011525332.3:c.3519T= XP_011523634.1:p.Asp1173=
XM_011525333.3:c.3519T= XP_011523635.1:p.Asp1173=
XM_011525334.2:c.3519T= XP_011523636.1:p.Asp1173=
XM_011525335.3:c.3459T= XP_011523637.1:p.Asp1153=
XM_011525336.2:c.3399T= XP_011523638.1:p.Asp1133=
XM_011525337.2:c.3318T= XP_011523639.1:p.Asp1106=
XM_011525338.2:c.3036T= XP_011523640.1:p.Asp1012=
XM_017025200.1:c.2976T= XP_016880689.1:p.Asp992=
XM_017025201.1:c.2976T= XP_016880690.1:p.Asp992=
XM_017025202.1:c.1605T= XP_016880691.1:p.Asp535=
XM_017025203.1:c.1605T= XP_016880692.1:p.Asp535=
NM_032043.3:c.3459T= MANE Select NP_114432.2:p.Asp1153=