Canonical Allele Identifier: CA2269130923
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683679T= , CM000679.2:g.61683679T= GRCh38
NC_000017.10:g.59761040T= , CM000679.1:g.59761040T= GRCh37
NC_000017.9:g.57115822T= NCBI36
NG_007409.2:g.184881A= , LRG_300:g.184881A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2107A=
ENST00000682453.1:c.3367A= ENSP00000506943.1:p.Thr1123=
ENST00000682477.1:c.*2793A= ENSP00000507075.1:n.*2793A=
ENST00000682589.1:n.9244A=
ENST00000682755.1:c.3145A= ENSP00000507660.1:p.Thr1049=
ENST00000682989.1:c.*458A= ENSP00000507786.1:n.*458A=
ENST00000683039.1:c.3367A= ENSP00000508303.1:p.Thr1123=
ENST00000683235.1:c.*782A= ENSP00000507646.1:n.*782A=
ENST00000683535.1:n.1497A=
ENST00000684584.1:c.2530A= ENSP00000508044.1:p.Thr844=
ENST00000684626.1:n.1613A=
ENST00000684769.1:c.1557A= ENSP00000507691.1:n.1557A=
ENST00000259008.7:c.3367A= MANE Select ENSP00000259008.2:p.Thr1123=
ENST00000259008.6:c.3367A= ENSP00000259008.2:p.Thr1123=
NM_032043.2:c.3367A= , LRG_300t1:c.3367A= NP_114432.2:p.Thr1123=
XM_011525332.1:c.3427A= XP_011523634.1:p.Thr1143=
XM_011525333.1:c.3427A= XP_011523635.1:p.Thr1143=
XM_011525334.1:c.3427A= XP_011523636.1:p.Thr1143=
XM_011525335.1:c.3367A= XP_011523637.1:p.Thr1123=
XM_011525336.1:c.3307A= XP_011523638.1:p.Thr1103=
XM_011525337.1:c.3226A= XP_011523639.1:p.Thr1076=
XM_011525338.1:c.2944A= XP_011523640.1:p.Thr982=
XM_011525332.3:c.3427A= XP_011523634.1:p.Thr1143=
XM_011525333.3:c.3427A= XP_011523635.1:p.Thr1143=
XM_011525334.2:c.3427A= XP_011523636.1:p.Thr1143=
XM_011525335.3:c.3367A= XP_011523637.1:p.Thr1123=
XM_011525336.2:c.3307A= XP_011523638.1:p.Thr1103=
XM_011525337.2:c.3226A= XP_011523639.1:p.Thr1076=
XM_011525338.2:c.2944A= XP_011523640.1:p.Thr982=
XM_017025200.1:c.2884A= XP_016880689.1:p.Thr962=
XM_017025201.1:c.2884A= XP_016880690.1:p.Thr962=
XM_017025202.1:c.1513A= XP_016880691.1:p.Thr505=
XM_017025203.1:c.1513A= XP_016880692.1:p.Thr505=
NM_032043.3:c.3367A= MANE Select NP_114432.2:p.Thr1123=