Canonical Allele Identifier: CA2269131133
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684015A= , CM000679.2:g.61684015A= GRCh38
NC_000017.10:g.59761376A= , CM000679.1:g.59761376A= GRCh37
NC_000017.9:g.57116158A= NCBI36
NG_007409.2:g.184545T= , LRG_300:g.184545T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1771T=
ENST00000682453.1:c.3031T= ENSP00000506943.1:p.Tyr1011=
ENST00000682477.1:c.*2457T= ENSP00000507075.1:n.*2457T=
ENST00000682589.1:n.8908T=
ENST00000682755.1:c.2809T= ENSP00000507660.1:p.Tyr937=
ENST00000682989.1:c.*122T= ENSP00000507786.1:n.*122T=
ENST00000683039.1:c.3031T= ENSP00000508303.1:p.Tyr1011=
ENST00000683235.1:c.*446T= ENSP00000507646.1:n.*446T=
ENST00000683535.1:n.1161T=
ENST00000684584.1:c.2194T= ENSP00000508044.1:p.Tyr732=
ENST00000684626.1:n.1277T=
ENST00000684769.1:c.1221T= ENSP00000507691.1:n.1221T=
ENST00000259008.7:c.3031T= MANE Select ENSP00000259008.2:p.Tyr1011=
ENST00000259008.6:c.3031T= ENSP00000259008.2:p.Tyr1011=
NM_032043.2:c.3031T= , LRG_300t1:c.3031T= NP_114432.2:p.Tyr1011=
XM_011525332.1:c.3091T= XP_011523634.1:p.Tyr1031=
XM_011525333.1:c.3091T= XP_011523635.1:p.Tyr1031=
XM_011525334.1:c.3091T= XP_011523636.1:p.Tyr1031=
XM_011525335.1:c.3031T= XP_011523637.1:p.Tyr1011=
XM_011525336.1:c.2971T= XP_011523638.1:p.Tyr991=
XM_011525337.1:c.2890T= XP_011523639.1:p.Tyr964=
XM_011525338.1:c.2608T= XP_011523640.1:p.Tyr870=
XM_011525332.3:c.3091T= XP_011523634.1:p.Tyr1031=
XM_011525333.3:c.3091T= XP_011523635.1:p.Tyr1031=
XM_011525334.2:c.3091T= XP_011523636.1:p.Tyr1031=
XM_011525335.3:c.3031T= XP_011523637.1:p.Tyr1011=
XM_011525336.2:c.2971T= XP_011523638.1:p.Tyr991=
XM_011525337.2:c.2890T= XP_011523639.1:p.Tyr964=
XM_011525338.2:c.2608T= XP_011523640.1:p.Tyr870=
XM_017025200.1:c.2548T= XP_016880689.1:p.Tyr850=
XM_017025201.1:c.2548T= XP_016880690.1:p.Tyr850=
XM_017025202.1:c.1177T= XP_016880691.1:p.Tyr393=
XM_017025203.1:c.1177T= XP_016880692.1:p.Tyr393=
NM_032043.3:c.3031T= MANE Select NP_114432.2:p.Tyr1011=