Canonical Allele Identifier: CA2269130891
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683630G= , CM000679.2:g.61683630G= GRCh38
NC_000017.10:g.59760991G= , CM000679.1:g.59760991G= GRCh37
NC_000017.9:g.57115773G= NCBI36
NG_007409.2:g.184930C= , LRG_300:g.184930C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2156C=
ENST00000682453.1:c.3416C= ENSP00000506943.1:p.Pro1139=
ENST00000682477.1:c.*2842C= ENSP00000507075.1:n.*2842C=
ENST00000682589.1:n.9293C=
ENST00000682755.1:c.3194C= ENSP00000507660.1:p.Pro1065=
ENST00000682989.1:c.*507C= ENSP00000507786.1:n.*507C=
ENST00000683039.1:c.3416C= ENSP00000508303.1:p.Pro1139=
ENST00000683235.1:c.*831C= ENSP00000507646.1:n.*831C=
ENST00000683535.1:n.1546C=
ENST00000684584.1:c.2579C= ENSP00000508044.1:p.Pro860=
ENST00000684626.1:n.1662C=
ENST00000684769.1:c.1606C= ENSP00000507691.1:n.1606C=
ENST00000259008.7:c.3416C= MANE Select ENSP00000259008.2:p.Pro1139=
ENST00000259008.6:c.3416C= ENSP00000259008.2:p.Pro1139=
NM_032043.2:c.3416C= , LRG_300t1:c.3416C= NP_114432.2:p.Pro1139=
XM_011525332.1:c.3476C= XP_011523634.1:p.Pro1159=
XM_011525333.1:c.3476C= XP_011523635.1:p.Pro1159=
XM_011525334.1:c.3476C= XP_011523636.1:p.Pro1159=
XM_011525335.1:c.3416C= XP_011523637.1:p.Pro1139=
XM_011525336.1:c.3356C= XP_011523638.1:p.Pro1119=
XM_011525337.1:c.3275C= XP_011523639.1:p.Pro1092=
XM_011525338.1:c.2993C= XP_011523640.1:p.Pro998=
XM_011525332.3:c.3476C= XP_011523634.1:p.Pro1159=
XM_011525333.3:c.3476C= XP_011523635.1:p.Pro1159=
XM_011525334.2:c.3476C= XP_011523636.1:p.Pro1159=
XM_011525335.3:c.3416C= XP_011523637.1:p.Pro1139=
XM_011525336.2:c.3356C= XP_011523638.1:p.Pro1119=
XM_011525337.2:c.3275C= XP_011523639.1:p.Pro1092=
XM_011525338.2:c.2993C= XP_011523640.1:p.Pro998=
XM_017025200.1:c.2933C= XP_016880689.1:p.Pro978=
XM_017025201.1:c.2933C= XP_016880690.1:p.Pro978=
XM_017025202.1:c.1562C= XP_016880691.1:p.Pro521=
XM_017025203.1:c.1562C= XP_016880692.1:p.Pro521=
NM_032043.3:c.3416C= MANE Select NP_114432.2:p.Pro1139=