Canonical Allele Identifier: CA2269198541
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61847162G= , CM000679.2:g.61847162G= GRCh38
NC_000017.10:g.59924523G= , CM000679.1:g.59924523G= GRCh37
NC_000017.9:g.57279305G= NCBI36
NG_007409.2:g.21398C= , LRG_300:g.21398C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000577913.2:c.566C= ENSP00000462274.2:p.Ser189=
ENST00000579028.2:c.59C= ENSP00000463827.2:p.Ser20=
ENST00000584322.2:c.566C= ENSP00000463272.2:p.Ser189=
ENST00000682066.1:c.59C= ENSP00000507191.1:p.Ser20=
ENST00000682369.1:c.566C= ENSP00000507450.1:p.Ser189=
ENST00000682453.1:c.566C= ENSP00000506943.1:p.Ser189=
ENST00000682477.1:c.566C= ENSP00000507075.1:p.Ser189=
ENST00000682589.1:n.2307C=
ENST00000682611.1:c.59C= ENSP00000508326.1:p.Ser20=
ENST00000682755.1:c.566C= ENSP00000507660.1:p.Ser189=
ENST00000682989.1:c.566C= ENSP00000507786.1:p.Ser189=
ENST00000683039.1:c.566C= ENSP00000508303.1:p.Ser189=
ENST00000683235.1:c.566C= ENSP00000507646.1:p.Ser189=
ENST00000683381.1:c.566C= ENSP00000508184.1:p.Ser189=
ENST00000683672.1:c.*54C= ENSP00000506781.1:n.*54C=
ENST00000683692.1:c.59C= ENSP00000507964.1:p.Ser20=
ENST00000684584.1:c.59C= ENSP00000508044.1:p.Ser20=
ENST00000259008.7:c.566C= MANE Select ENSP00000259008.2:p.Ser189=
ENST00000259008.6:c.566C= ENSP00000259008.2:p.Ser189=
ENST00000577598.5:c.566C= ENSP00000464654.1:p.Ser189=
NM_032043.2:c.566C= , LRG_300t1:c.566C= NP_114432.2:p.Ser189=
XM_011525332.1:c.566C= XP_011523634.1:p.Ser189=
XM_011525333.1:c.566C= XP_011523635.1:p.Ser189=
XM_011525334.1:c.566C= XP_011523636.1:p.Ser189=
XM_011525335.1:c.566C= XP_011523637.1:p.Ser189=
XM_011525336.1:c.566C= XP_011523638.1:p.Ser189=
XM_011525337.1:c.566C= XP_011523639.1:p.Ser189=
XM_011525338.1:c.83C= XP_011523640.1:p.Ser28=
XM_011525339.1:c.566C= XP_011523641.1:p.Ser189=
XM_011525340.1:c.566C= XP_011523642.1:p.Ser189=
XM_011525341.1:c.566C= XP_011523643.1:p.Ser189=
XM_011525332.3:c.566C= XP_011523634.1:p.Ser189=
XM_011525333.3:c.566C= XP_011523635.1:p.Ser189=
XM_011525334.2:c.566C= XP_011523636.1:p.Ser189=
XM_011525335.3:c.566C= XP_011523637.1:p.Ser189=
XM_011525336.2:c.566C= XP_011523638.1:p.Ser189=
XM_011525337.2:c.566C= XP_011523639.1:p.Ser189=
XM_011525338.2:c.83C= XP_011523640.1:p.Ser28=
XM_011525339.3:c.566C= XP_011523641.1:p.Ser189=
XM_011525340.3:c.566C= XP_011523642.1:p.Ser189=
XM_011525341.3:c.566C= XP_011523643.1:p.Ser189=
XM_017025200.1:c.83C= XP_016880689.1:p.Ser28=
NM_032043.3:c.566C= MANE Select NP_114432.2:p.Ser189=