Canonical Allele Identifier: CA2269154959
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61743050G= , CM000679.2:g.61743050G= GRCh38
NC_000017.10:g.59820411G= , CM000679.1:g.59820411G= GRCh37
NC_000017.9:g.57175193G= NCBI36
NG_007409.2:g.125510C= , LRG_300:g.125510C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000584322.2:c.2342C= ENSP00000463272.2:p.Thr781=
ENST00000682066.1:c.2472C= ENSP00000507191.1:n.2472C=
ENST00000682073.1:n.1082C=
ENST00000682433.1:n.1421C=
ENST00000682453.1:c.2342C= ENSP00000506943.1:p.Thr781=
ENST00000682477.1:c.*1768C= ENSP00000507075.1:n.*1768C=
ENST00000682589.1:n.8219C=
ENST00000682755.1:c.2120C= ENSP00000507660.1:p.Thr707=
ENST00000682989.1:c.2342C= ENSP00000507786.1:p.Thr781=
ENST00000683039.1:c.2342C= ENSP00000508303.1:p.Thr781=
ENST00000683235.1:c.2342C= ENSP00000507646.1:p.Thr781=
ENST00000683381.1:c.2402C= ENSP00000508184.1:p.Thr801=
ENST00000683535.1:n.472C=
ENST00000684471.1:n.755C=
ENST00000684584.1:c.1835C= ENSP00000508044.1:p.Thr612=
ENST00000684769.1:c.407C= ENSP00000507691.1:p.Thr136=
ENST00000259008.7:c.2342C= MANE Select ENSP00000259008.2:p.Thr781=
ENST00000259008.6:c.2342C= ENSP00000259008.2:p.Thr781=
ENST00000577598.5:c.2342C= ENSP00000464654.1:p.Thr781=
ENST00000584322.1:c.325C=
NM_032043.2:c.2342C= , LRG_300t1:c.2342C= NP_114432.2:p.Thr781=
XM_011525332.1:c.2402C= XP_011523634.1:p.Thr801=
XM_011525333.1:c.2402C= XP_011523635.1:p.Thr801=
XM_011525334.1:c.2402C= XP_011523636.1:p.Thr801=
XM_011525335.1:c.2342C= XP_011523637.1:p.Thr781=
XM_011525336.1:c.2282C= XP_011523638.1:p.Thr761=
XM_011525337.1:c.2201C= XP_011523639.1:p.Thr734=
XM_011525338.1:c.1919C= XP_011523640.1:p.Thr640=
XM_011525339.1:c.2402C= XP_011523641.1:p.Thr801=
XM_011525340.1:c.2402C= XP_011523642.1:p.Thr801=
XR_934894.1:n.524-1131G=
XM_011525332.3:c.2402C= XP_011523634.1:p.Thr801=
XM_011525333.3:c.2402C= XP_011523635.1:p.Thr801=
XM_011525334.2:c.2402C= XP_011523636.1:p.Thr801=
XM_011525335.3:c.2342C= XP_011523637.1:p.Thr781=
XM_011525336.2:c.2282C= XP_011523638.1:p.Thr761=
XM_011525337.2:c.2201C= XP_011523639.1:p.Thr734=
XM_011525338.2:c.1919C= XP_011523640.1:p.Thr640=
XM_011525339.3:c.2402C= XP_011523641.1:p.Thr801=
XM_011525340.3:c.2402C= XP_011523642.1:p.Thr801=
XM_017025200.1:c.1859C= XP_016880689.1:p.Thr620=
XM_017025201.1:c.1859C= XP_016880690.1:p.Thr620=
XM_017025202.1:c.488C= XP_016880691.1:p.Thr163=
XM_017025203.1:c.488C= XP_016880692.1:p.Thr163=
NM_032043.3:c.2342C= MANE Select NP_114432.2:p.Thr781=