Canonical Allele Identifier: CA2269130852
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683557A= , CM000679.2:g.61683557A= GRCh38
NC_000017.10:g.59760918A= , CM000679.1:g.59760918A= GRCh37
NC_000017.9:g.57115700A= NCBI36
NG_007409.2:g.185003T= , LRG_300:g.185003T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2229T=
ENST00000682453.1:c.3489T= ENSP00000506943.1:p.Asp1163=
ENST00000682477.1:c.*2915T= ENSP00000507075.1:n.*2915T=
ENST00000682589.1:n.9366T=
ENST00000682755.1:c.3267T= ENSP00000507660.1:p.Asp1089=
ENST00000682989.1:c.*580T= ENSP00000507786.1:n.*580T=
ENST00000683039.1:c.3489T= ENSP00000508303.1:p.Asp1163=
ENST00000683235.1:c.*904T= ENSP00000507646.1:n.*904T=
ENST00000683535.1:n.1619T=
ENST00000684584.1:c.2652T= ENSP00000508044.1:p.Asp884=
ENST00000684626.1:n.1735T=
ENST00000684769.1:c.1679T= ENSP00000507691.1:n.1679T=
ENST00000259008.7:c.3489T= MANE Select ENSP00000259008.2:p.Asp1163=
ENST00000259008.6:c.3489T= ENSP00000259008.2:p.Asp1163=
NM_032043.2:c.3489T= , LRG_300t1:c.3489T= NP_114432.2:p.Asp1163=
XM_011525332.1:c.3549T= XP_011523634.1:p.Asp1183=
XM_011525333.1:c.3549T= XP_011523635.1:p.Asp1183=
XM_011525334.1:c.3549T= XP_011523636.1:p.Asp1183=
XM_011525335.1:c.3489T= XP_011523637.1:p.Asp1163=
XM_011525336.1:c.3429T= XP_011523638.1:p.Asp1143=
XM_011525337.1:c.3348T= XP_011523639.1:p.Asp1116=
XM_011525338.1:c.3066T= XP_011523640.1:p.Asp1022=
XM_011525332.3:c.3549T= XP_011523634.1:p.Asp1183=
XM_011525333.3:c.3549T= XP_011523635.1:p.Asp1183=
XM_011525334.2:c.3549T= XP_011523636.1:p.Asp1183=
XM_011525335.3:c.3489T= XP_011523637.1:p.Asp1163=
XM_011525336.2:c.3429T= XP_011523638.1:p.Asp1143=
XM_011525337.2:c.3348T= XP_011523639.1:p.Asp1116=
XM_011525338.2:c.3066T= XP_011523640.1:p.Asp1022=
XM_017025200.1:c.3006T= XP_016880689.1:p.Asp1002=
XM_017025201.1:c.3006T= XP_016880690.1:p.Asp1002=
XM_017025202.1:c.1635T= XP_016880691.1:p.Asp545=
XM_017025203.1:c.1635T= XP_016880692.1:p.Asp545=
NM_032043.3:c.3489T= MANE Select NP_114432.2:p.Asp1163=