Canonical Allele Identifier: CA2269170259
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61780290C= , CM000679.2:g.61780290C= GRCh38
NC_000017.10:g.59857651C= , CM000679.1:g.59857651C= GRCh37
NC_000017.9:g.57212433C= NCBI36
NG_007409.2:g.88270G= , LRG_300:g.88270G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000579028.2:c.1488G= ENSP00000463827.2:n.1488G=
ENST00000584322.2:c.1906G= ENSP00000463272.2:p.Glu636=
ENST00000682066.1:c.1399G= ENSP00000507191.1:p.Glu467=
ENST00000682073.1:n.646G=
ENST00000682453.1:c.1906G= ENSP00000506943.1:p.Glu636=
ENST00000682477.1:c.*1332G= ENSP00000507075.1:n.*1332G=
ENST00000682589.1:n.4085G=
ENST00000682611.1:c.1399G= ENSP00000508326.1:p.Glu467=
ENST00000682755.1:c.1684G= ENSP00000507660.1:p.Glu562=
ENST00000682989.1:c.1906G= ENSP00000507786.1:p.Glu636=
ENST00000683039.1:c.1906G= ENSP00000508303.1:p.Glu636=
ENST00000683235.1:c.1906G= ENSP00000507646.1:p.Glu636=
ENST00000683381.1:c.1906G= ENSP00000508184.1:p.Glu636=
ENST00000684471.1:n.379G=
ENST00000684584.1:c.1399G= ENSP00000508044.1:p.Glu467=
ENST00000259008.7:c.1906G= MANE Select ENSP00000259008.2:p.Glu636=
ENST00000259008.6:c.1906G= ENSP00000259008.2:p.Glu636=
ENST00000577598.5:c.1906G= ENSP00000464654.1:p.Glu636=
ENST00000579028.1:c.599G=
NM_032043.2:c.1906G= , LRG_300t1:c.1906G= NP_114432.2:p.Glu636=
XM_011525332.1:c.1906G= XP_011523634.1:p.Glu636=
XM_011525333.1:c.1906G= XP_011523635.1:p.Glu636=
XM_011525334.1:c.1906G= XP_011523636.1:p.Glu636=
XM_011525335.1:c.1906G= XP_011523637.1:p.Glu636=
XM_011525336.1:c.1906G= XP_011523638.1:p.Glu636=
XM_011525337.1:c.1794+550G= XP_011523639.1:n.1794+550G=
XM_011525338.1:c.1423G= XP_011523640.1:p.Glu475=
XM_011525339.1:c.1906G= XP_011523641.1:p.Glu636=
XM_011525340.1:c.1906G= XP_011523642.1:p.Glu636=
XM_011525341.1:c.1906G= XP_011523643.1:p.Glu636=
XM_011525332.3:c.1906G= XP_011523634.1:p.Glu636=
XM_011525333.3:c.1906G= XP_011523635.1:p.Glu636=
XM_011525334.2:c.1906G= XP_011523636.1:p.Glu636=
XM_011525335.3:c.1906G= XP_011523637.1:p.Glu636=
XM_011525336.2:c.1906G= XP_011523638.1:p.Glu636=
XM_011525337.2:c.1794+550G= XP_011523639.1:n.1794+550G=
XM_011525338.2:c.1423G= XP_011523640.1:p.Glu475=
XM_011525339.3:c.1906G= XP_011523641.1:p.Glu636=
XM_011525340.3:c.1906G= XP_011523642.1:p.Glu636=
XM_011525341.3:c.1906G= XP_011523643.1:p.Glu636=
XM_017025200.1:c.1423G= XP_016880689.1:p.Glu475=
XM_017025201.1:c.1363G= XP_016880690.1:p.Glu455=
XM_017025203.1:c.-55G= XP_016880692.1:n.-55G=
NM_032043.3:c.1906G= MANE Select NP_114432.2:p.Glu636=