Canonical Allele Identifier: CA2269130889
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683624T= , CM000679.2:g.61683624T= GRCh38
NC_000017.10:g.59760985T= , CM000679.1:g.59760985T= GRCh37
NC_000017.9:g.57115767T= NCBI36
NG_007409.2:g.184936A= , LRG_300:g.184936A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2162A=
ENST00000682453.1:c.3422A= ENSP00000506943.1:p.Asp1141=
ENST00000682477.1:c.*2848A= ENSP00000507075.1:n.*2848A=
ENST00000682589.1:n.9299A=
ENST00000682755.1:c.3200A= ENSP00000507660.1:p.Asp1067=
ENST00000682989.1:c.*513A= ENSP00000507786.1:n.*513A=
ENST00000683039.1:c.3422A= ENSP00000508303.1:p.Asp1141=
ENST00000683235.1:c.*837A= ENSP00000507646.1:n.*837A=
ENST00000683535.1:n.1552A=
ENST00000684584.1:c.2585A= ENSP00000508044.1:p.Asp862=
ENST00000684626.1:n.1668A=
ENST00000684769.1:c.1612A= ENSP00000507691.1:n.1612A=
ENST00000259008.7:c.3422A= MANE Select ENSP00000259008.2:p.Asp1141=
ENST00000259008.6:c.3422A= ENSP00000259008.2:p.Asp1141=
NM_032043.2:c.3422A= , LRG_300t1:c.3422A= NP_114432.2:p.Asp1141=
XM_011525332.1:c.3482A= XP_011523634.1:p.Asp1161=
XM_011525333.1:c.3482A= XP_011523635.1:p.Asp1161=
XM_011525334.1:c.3482A= XP_011523636.1:p.Asp1161=
XM_011525335.1:c.3422A= XP_011523637.1:p.Asp1141=
XM_011525336.1:c.3362A= XP_011523638.1:p.Asp1121=
XM_011525337.1:c.3281A= XP_011523639.1:p.Asp1094=
XM_011525338.1:c.2999A= XP_011523640.1:p.Asp1000=
XM_011525332.3:c.3482A= XP_011523634.1:p.Asp1161=
XM_011525333.3:c.3482A= XP_011523635.1:p.Asp1161=
XM_011525334.2:c.3482A= XP_011523636.1:p.Asp1161=
XM_011525335.3:c.3422A= XP_011523637.1:p.Asp1141=
XM_011525336.2:c.3362A= XP_011523638.1:p.Asp1121=
XM_011525337.2:c.3281A= XP_011523639.1:p.Asp1094=
XM_011525338.2:c.2999A= XP_011523640.1:p.Asp1000=
XM_017025200.1:c.2939A= XP_016880689.1:p.Asp980=
XM_017025201.1:c.2939A= XP_016880690.1:p.Asp980=
XM_017025202.1:c.1568A= XP_016880691.1:p.Asp523=
XM_017025203.1:c.1568A= XP_016880692.1:p.Asp523=
NM_032043.3:c.3422A= MANE Select NP_114432.2:p.Asp1141=