Canonical Allele Identifier: CA2269131151
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684050C= , CM000679.2:g.61684050C= GRCh38
NC_000017.10:g.59761411C= , CM000679.1:g.59761411C= GRCh37
NC_000017.9:g.57116193C= NCBI36
NG_007409.2:g.184510G= , LRG_300:g.184510G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1736G=
ENST00000682453.1:c.2996G= ENSP00000506943.1:p.Arg999=
ENST00000682477.1:c.*2422G= ENSP00000507075.1:n.*2422G=
ENST00000682589.1:n.8873G=
ENST00000682755.1:c.2774G= ENSP00000507660.1:p.Arg925=
ENST00000682989.1:c.*87G= ENSP00000507786.1:n.*87G=
ENST00000683039.1:c.2996G= ENSP00000508303.1:p.Arg999=
ENST00000683235.1:c.*411G= ENSP00000507646.1:n.*411G=
ENST00000683535.1:n.1126G=
ENST00000684584.1:c.2159G= ENSP00000508044.1:p.Arg720=
ENST00000684626.1:n.1242G=
ENST00000684769.1:c.1186G= ENSP00000507691.1:n.1186G=
ENST00000259008.7:c.2996G= MANE Select ENSP00000259008.2:p.Arg999=
ENST00000259008.6:c.2996G= ENSP00000259008.2:p.Arg999=
NM_032043.2:c.2996G= , LRG_300t1:c.2996G= NP_114432.2:p.Arg999=
XM_011525332.1:c.3056G= XP_011523634.1:p.Arg1019=
XM_011525333.1:c.3056G= XP_011523635.1:p.Arg1019=
XM_011525334.1:c.3056G= XP_011523636.1:p.Arg1019=
XM_011525335.1:c.2996G= XP_011523637.1:p.Arg999=
XM_011525336.1:c.2936G= XP_011523638.1:p.Arg979=
XM_011525337.1:c.2855G= XP_011523639.1:p.Arg952=
XM_011525338.1:c.2573G= XP_011523640.1:p.Arg858=
XM_011525332.3:c.3056G= XP_011523634.1:p.Arg1019=
XM_011525333.3:c.3056G= XP_011523635.1:p.Arg1019=
XM_011525334.2:c.3056G= XP_011523636.1:p.Arg1019=
XM_011525335.3:c.2996G= XP_011523637.1:p.Arg999=
XM_011525336.2:c.2936G= XP_011523638.1:p.Arg979=
XM_011525337.2:c.2855G= XP_011523639.1:p.Arg952=
XM_011525338.2:c.2573G= XP_011523640.1:p.Arg858=
XM_017025200.1:c.2513G= XP_016880689.1:p.Arg838=
XM_017025201.1:c.2513G= XP_016880690.1:p.Arg838=
XM_017025202.1:c.1142G= XP_016880691.1:p.Arg381=
XM_017025203.1:c.1142G= XP_016880692.1:p.Arg381=
NM_032043.3:c.2996G= MANE Select NP_114432.2:p.Arg999=