Canonical Allele Identifier: CA2269131001
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683801G= , CM000679.2:g.61683801G= GRCh38
NC_000017.10:g.59761162G= , CM000679.1:g.59761162G= GRCh37
NC_000017.9:g.57115944G= NCBI36
NG_007409.2:g.184759C= , LRG_300:g.184759C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1985C=
ENST00000682453.1:c.3245C= ENSP00000506943.1:p.Thr1082=
ENST00000682477.1:c.*2671C= ENSP00000507075.1:n.*2671C=
ENST00000682589.1:n.9122C=
ENST00000682755.1:c.3023C= ENSP00000507660.1:p.Thr1008=
ENST00000682989.1:c.*336C= ENSP00000507786.1:n.*336C=
ENST00000683039.1:c.3245C= ENSP00000508303.1:p.Thr1082=
ENST00000683235.1:c.*660C= ENSP00000507646.1:n.*660C=
ENST00000683535.1:n.1375C=
ENST00000684584.1:c.2408C= ENSP00000508044.1:p.Thr803=
ENST00000684626.1:n.1491C=
ENST00000684769.1:c.1435C= ENSP00000507691.1:n.1435C=
ENST00000259008.7:c.3245C= MANE Select ENSP00000259008.2:p.Thr1082=
ENST00000259008.6:c.3245C= ENSP00000259008.2:p.Thr1082=
NM_032043.2:c.3245C= , LRG_300t1:c.3245C= NP_114432.2:p.Thr1082=
XM_011525332.1:c.3305C= XP_011523634.1:p.Thr1102=
XM_011525333.1:c.3305C= XP_011523635.1:p.Thr1102=
XM_011525334.1:c.3305C= XP_011523636.1:p.Thr1102=
XM_011525335.1:c.3245C= XP_011523637.1:p.Thr1082=
XM_011525336.1:c.3185C= XP_011523638.1:p.Thr1062=
XM_011525337.1:c.3104C= XP_011523639.1:p.Thr1035=
XM_011525338.1:c.2822C= XP_011523640.1:p.Thr941=
XM_011525332.3:c.3305C= XP_011523634.1:p.Thr1102=
XM_011525333.3:c.3305C= XP_011523635.1:p.Thr1102=
XM_011525334.2:c.3305C= XP_011523636.1:p.Thr1102=
XM_011525335.3:c.3245C= XP_011523637.1:p.Thr1082=
XM_011525336.2:c.3185C= XP_011523638.1:p.Thr1062=
XM_011525337.2:c.3104C= XP_011523639.1:p.Thr1035=
XM_011525338.2:c.2822C= XP_011523640.1:p.Thr941=
XM_017025200.1:c.2762C= XP_016880689.1:p.Thr921=
XM_017025201.1:c.2762C= XP_016880690.1:p.Thr921=
XM_017025202.1:c.1391C= XP_016880691.1:p.Thr464=
XM_017025203.1:c.1391C= XP_016880692.1:p.Thr464=
NM_032043.3:c.3245C= MANE Select NP_114432.2:p.Thr1082=