Canonical Allele Identifier: CA2269170244
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61780261C= , CM000679.2:g.61780261C= GRCh38
NC_000017.10:g.59857622C= , CM000679.1:g.59857622C= GRCh37
NC_000017.9:g.57212404C= NCBI36
NG_007409.2:g.88299G= , LRG_300:g.88299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000579028.2:c.1517G= ENSP00000463827.2:n.1517G=
ENST00000584322.2:c.1935G= ENSP00000463272.2:p.Gln645=
ENST00000682066.1:c.1428G= ENSP00000507191.1:p.Gln476=
ENST00000682073.1:n.675G=
ENST00000682453.1:c.1935G= ENSP00000506943.1:p.Gln645=
ENST00000682477.1:c.*1361G= ENSP00000507075.1:n.*1361G=
ENST00000682589.1:n.4114G=
ENST00000682611.1:c.1428G= ENSP00000508326.1:p.Gln476=
ENST00000682755.1:c.1713G= ENSP00000507660.1:p.Gln571=
ENST00000682989.1:c.1935G= ENSP00000507786.1:p.Gln645=
ENST00000683039.1:c.1935G= ENSP00000508303.1:p.Gln645=
ENST00000683235.1:c.1935G= ENSP00000507646.1:p.Gln645=
ENST00000683381.1:c.1935G= ENSP00000508184.1:p.Gln645=
ENST00000684471.1:n.408G=
ENST00000684584.1:c.1428G= ENSP00000508044.1:p.Gln476=
ENST00000259008.7:c.1935G= MANE Select ENSP00000259008.2:p.Gln645=
ENST00000259008.6:c.1935G= ENSP00000259008.2:p.Gln645=
ENST00000577598.5:c.1935G= ENSP00000464654.1:p.Gln645=
ENST00000579028.1:c.628G=
ENST00000583837.5:n.17G=
NM_032043.2:c.1935G= , LRG_300t1:c.1935G= NP_114432.2:p.Gln645=
XM_011525332.1:c.1935G= XP_011523634.1:p.Gln645=
XM_011525333.1:c.1935G= XP_011523635.1:p.Gln645=
XM_011525334.1:c.1935G= XP_011523636.1:p.Gln645=
XM_011525335.1:c.1935G= XP_011523637.1:p.Gln645=
XM_011525336.1:c.1935G= XP_011523638.1:p.Gln645=
XM_011525337.1:c.1794+579G= XP_011523639.1:n.1794+579G=
XM_011525338.1:c.1452G= XP_011523640.1:p.Gln484=
XM_011525339.1:c.1935G= XP_011523641.1:p.Gln645=
XM_011525340.1:c.1935G= XP_011523642.1:p.Gln645=
XM_011525341.1:c.1935G= XP_011523643.1:p.Gln645=
XM_011525332.3:c.1935G= XP_011523634.1:p.Gln645=
XM_011525333.3:c.1935G= XP_011523635.1:p.Gln645=
XM_011525334.2:c.1935G= XP_011523636.1:p.Gln645=
XM_011525335.3:c.1935G= XP_011523637.1:p.Gln645=
XM_011525336.2:c.1935G= XP_011523638.1:p.Gln645=
XM_011525337.2:c.1794+579G= XP_011523639.1:n.1794+579G=
XM_011525338.2:c.1452G= XP_011523640.1:p.Gln484=
XM_011525339.3:c.1935G= XP_011523641.1:p.Gln645=
XM_011525340.3:c.1935G= XP_011523642.1:p.Gln645=
XM_011525341.3:c.1935G= XP_011523643.1:p.Gln645=
XM_017025200.1:c.1452G= XP_016880689.1:p.Gln484=
XM_017025201.1:c.1392G= XP_016880690.1:p.Gln464=
XM_017025203.1:c.-26G= XP_016880692.1:n.-26G=
NM_032043.3:c.1935G= MANE Select NP_114432.2:p.Gln645=