Canonical Allele Identifier: CA2269131118
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683992C= , CM000679.2:g.61683992C= GRCh38
NC_000017.10:g.59761353C= , CM000679.1:g.59761353C= GRCh37
NC_000017.9:g.57116135C= NCBI36
NG_007409.2:g.184568G= , LRG_300:g.184568G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1794G=
ENST00000682453.1:c.3054G= ENSP00000506943.1:p.Lys1018=
ENST00000682477.1:c.*2480G= ENSP00000507075.1:n.*2480G=
ENST00000682589.1:n.8931G=
ENST00000682755.1:c.2832G= ENSP00000507660.1:p.Lys944=
ENST00000682989.1:c.*145G= ENSP00000507786.1:n.*145G=
ENST00000683039.1:c.3054G= ENSP00000508303.1:p.Lys1018=
ENST00000683235.1:c.*469G= ENSP00000507646.1:n.*469G=
ENST00000683535.1:n.1184G=
ENST00000684584.1:c.2217G= ENSP00000508044.1:p.Lys739=
ENST00000684626.1:n.1300G=
ENST00000684769.1:c.1244G= ENSP00000507691.1:n.1244G=
ENST00000259008.7:c.3054G= MANE Select ENSP00000259008.2:p.Lys1018=
ENST00000259008.6:c.3054G= ENSP00000259008.2:p.Lys1018=
NM_032043.2:c.3054G= , LRG_300t1:c.3054G= NP_114432.2:p.Lys1018=
XM_011525332.1:c.3114G= XP_011523634.1:p.Lys1038=
XM_011525333.1:c.3114G= XP_011523635.1:p.Lys1038=
XM_011525334.1:c.3114G= XP_011523636.1:p.Lys1038=
XM_011525335.1:c.3054G= XP_011523637.1:p.Lys1018=
XM_011525336.1:c.2994G= XP_011523638.1:p.Lys998=
XM_011525337.1:c.2913G= XP_011523639.1:p.Lys971=
XM_011525338.1:c.2631G= XP_011523640.1:p.Lys877=
XM_011525332.3:c.3114G= XP_011523634.1:p.Lys1038=
XM_011525333.3:c.3114G= XP_011523635.1:p.Lys1038=
XM_011525334.2:c.3114G= XP_011523636.1:p.Lys1038=
XM_011525335.3:c.3054G= XP_011523637.1:p.Lys1018=
XM_011525336.2:c.2994G= XP_011523638.1:p.Lys998=
XM_011525337.2:c.2913G= XP_011523639.1:p.Lys971=
XM_011525338.2:c.2631G= XP_011523640.1:p.Lys877=
XM_017025200.1:c.2571G= XP_016880689.1:p.Lys857=
XM_017025201.1:c.2571G= XP_016880690.1:p.Lys857=
XM_017025202.1:c.1200G= XP_016880691.1:p.Lys400=
XM_017025203.1:c.1200G= XP_016880692.1:p.Lys400=
NM_032043.3:c.3054G= MANE Select NP_114432.2:p.Lys1018=