Canonical Allele Identifier: CA2269130996
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683792C= , CM000679.2:g.61683792C= GRCh38
NC_000017.10:g.59761153C= , CM000679.1:g.59761153C= GRCh37
NC_000017.9:g.57115935C= NCBI36
NG_007409.2:g.184768G= , LRG_300:g.184768G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1994G=
ENST00000682453.1:c.3254G= ENSP00000506943.1:p.Arg1085=
ENST00000682477.1:c.*2680G= ENSP00000507075.1:n.*2680G=
ENST00000682589.1:n.9131G=
ENST00000682755.1:c.3032G= ENSP00000507660.1:p.Arg1011=
ENST00000682989.1:c.*345G= ENSP00000507786.1:n.*345G=
ENST00000683039.1:c.3254G= ENSP00000508303.1:p.Arg1085=
ENST00000683235.1:c.*669G= ENSP00000507646.1:n.*669G=
ENST00000683535.1:n.1384G=
ENST00000684584.1:c.2417G= ENSP00000508044.1:p.Arg806=
ENST00000684626.1:n.1500G=
ENST00000684769.1:c.1444G= ENSP00000507691.1:n.1444G=
ENST00000259008.7:c.3254G= MANE Select ENSP00000259008.2:p.Arg1085=
ENST00000259008.6:c.3254G= ENSP00000259008.2:p.Arg1085=
NM_032043.2:c.3254G= , LRG_300t1:c.3254G= NP_114432.2:p.Arg1085=
XM_011525332.1:c.3314G= XP_011523634.1:p.Arg1105=
XM_011525333.1:c.3314G= XP_011523635.1:p.Arg1105=
XM_011525334.1:c.3314G= XP_011523636.1:p.Arg1105=
XM_011525335.1:c.3254G= XP_011523637.1:p.Arg1085=
XM_011525336.1:c.3194G= XP_011523638.1:p.Arg1065=
XM_011525337.1:c.3113G= XP_011523639.1:p.Arg1038=
XM_011525338.1:c.2831G= XP_011523640.1:p.Arg944=
XM_011525332.3:c.3314G= XP_011523634.1:p.Arg1105=
XM_011525333.3:c.3314G= XP_011523635.1:p.Arg1105=
XM_011525334.2:c.3314G= XP_011523636.1:p.Arg1105=
XM_011525335.3:c.3254G= XP_011523637.1:p.Arg1085=
XM_011525336.2:c.3194G= XP_011523638.1:p.Arg1065=
XM_011525337.2:c.3113G= XP_011523639.1:p.Arg1038=
XM_011525338.2:c.2831G= XP_011523640.1:p.Arg944=
XM_017025200.1:c.2771G= XP_016880689.1:p.Arg924=
XM_017025201.1:c.2771G= XP_016880690.1:p.Arg924=
XM_017025202.1:c.1400G= XP_016880691.1:p.Arg467=
XM_017025203.1:c.1400G= XP_016880692.1:p.Arg467=
NM_032043.3:c.3254G= MANE Select NP_114432.2:p.Arg1085=