Canonical Allele Identifier: CA2269130897
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683637A= , CM000679.2:g.61683637A= GRCh38
NC_000017.10:g.59760998A= , CM000679.1:g.59760998A= GRCh37
NC_000017.9:g.57115780A= NCBI36
NG_007409.2:g.184923T= , LRG_300:g.184923T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2149T=
ENST00000682453.1:c.3409T= ENSP00000506943.1:p.Tyr1137=
ENST00000682477.1:c.*2835T= ENSP00000507075.1:n.*2835T=
ENST00000682589.1:n.9286T=
ENST00000682755.1:c.3187T= ENSP00000507660.1:p.Tyr1063=
ENST00000682989.1:c.*500T= ENSP00000507786.1:n.*500T=
ENST00000683039.1:c.3409T= ENSP00000508303.1:p.Tyr1137=
ENST00000683235.1:c.*824T= ENSP00000507646.1:n.*824T=
ENST00000683535.1:n.1539T=
ENST00000684584.1:c.2572T= ENSP00000508044.1:p.Tyr858=
ENST00000684626.1:n.1655T=
ENST00000684769.1:c.1599T= ENSP00000507691.1:n.1599T=
ENST00000259008.7:c.3409T= MANE Select ENSP00000259008.2:p.Tyr1137=
ENST00000259008.6:c.3409T= ENSP00000259008.2:p.Tyr1137=
NM_032043.2:c.3409T= , LRG_300t1:c.3409T= NP_114432.2:p.Tyr1137=
XM_011525332.1:c.3469T= XP_011523634.1:p.Tyr1157=
XM_011525333.1:c.3469T= XP_011523635.1:p.Tyr1157=
XM_011525334.1:c.3469T= XP_011523636.1:p.Tyr1157=
XM_011525335.1:c.3409T= XP_011523637.1:p.Tyr1137=
XM_011525336.1:c.3349T= XP_011523638.1:p.Tyr1117=
XM_011525337.1:c.3268T= XP_011523639.1:p.Tyr1090=
XM_011525338.1:c.2986T= XP_011523640.1:p.Tyr996=
XM_011525332.3:c.3469T= XP_011523634.1:p.Tyr1157=
XM_011525333.3:c.3469T= XP_011523635.1:p.Tyr1157=
XM_011525334.2:c.3469T= XP_011523636.1:p.Tyr1157=
XM_011525335.3:c.3409T= XP_011523637.1:p.Tyr1137=
XM_011525336.2:c.3349T= XP_011523638.1:p.Tyr1117=
XM_011525337.2:c.3268T= XP_011523639.1:p.Tyr1090=
XM_011525338.2:c.2986T= XP_011523640.1:p.Tyr996=
XM_017025200.1:c.2926T= XP_016880689.1:p.Tyr976=
XM_017025201.1:c.2926T= XP_016880690.1:p.Tyr976=
XM_017025202.1:c.1555T= XP_016880691.1:p.Tyr519=
XM_017025203.1:c.1555T= XP_016880692.1:p.Tyr519=
NM_032043.3:c.3409T= MANE Select NP_114432.2:p.Tyr1137=