Canonical Allele Identifier: CA2269130894
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683634C= , CM000679.2:g.61683634C= GRCh38
NC_000017.10:g.59760995C= , CM000679.1:g.59760995C= GRCh37
NC_000017.9:g.57115777C= NCBI36
NG_007409.2:g.184926G= , LRG_300:g.184926G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2152G=
ENST00000682453.1:c.3412G= ENSP00000506943.1:p.Asp1138=
ENST00000682477.1:c.*2838G= ENSP00000507075.1:n.*2838G=
ENST00000682589.1:n.9289G=
ENST00000682755.1:c.3190G= ENSP00000507660.1:p.Asp1064=
ENST00000682989.1:c.*503G= ENSP00000507786.1:n.*503G=
ENST00000683039.1:c.3412G= ENSP00000508303.1:p.Asp1138=
ENST00000683235.1:c.*827G= ENSP00000507646.1:n.*827G=
ENST00000683535.1:n.1542G=
ENST00000684584.1:c.2575G= ENSP00000508044.1:p.Asp859=
ENST00000684626.1:n.1658G=
ENST00000684769.1:c.1602G= ENSP00000507691.1:n.1602G=
ENST00000259008.7:c.3412G= MANE Select ENSP00000259008.2:p.Asp1138=
ENST00000259008.6:c.3412G= ENSP00000259008.2:p.Asp1138=
NM_032043.2:c.3412G= , LRG_300t1:c.3412G= NP_114432.2:p.Asp1138=
XM_011525332.1:c.3472G= XP_011523634.1:p.Asp1158=
XM_011525333.1:c.3472G= XP_011523635.1:p.Asp1158=
XM_011525334.1:c.3472G= XP_011523636.1:p.Asp1158=
XM_011525335.1:c.3412G= XP_011523637.1:p.Asp1138=
XM_011525336.1:c.3352G= XP_011523638.1:p.Asp1118=
XM_011525337.1:c.3271G= XP_011523639.1:p.Asp1091=
XM_011525338.1:c.2989G= XP_011523640.1:p.Asp997=
XM_011525332.3:c.3472G= XP_011523634.1:p.Asp1158=
XM_011525333.3:c.3472G= XP_011523635.1:p.Asp1158=
XM_011525334.2:c.3472G= XP_011523636.1:p.Asp1158=
XM_011525335.3:c.3412G= XP_011523637.1:p.Asp1138=
XM_011525336.2:c.3352G= XP_011523638.1:p.Asp1118=
XM_011525337.2:c.3271G= XP_011523639.1:p.Asp1091=
XM_011525338.2:c.2989G= XP_011523640.1:p.Asp997=
XM_017025200.1:c.2929G= XP_016880689.1:p.Asp977=
XM_017025201.1:c.2929G= XP_016880690.1:p.Asp977=
XM_017025202.1:c.1558G= XP_016880691.1:p.Asp520=
XM_017025203.1:c.1558G= XP_016880692.1:p.Asp520=
NM_032043.3:c.3412G= MANE Select NP_114432.2:p.Asp1138=