Canonical Allele Identifier: CA2269131054
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683881G= , CM000679.2:g.61683881G= GRCh38
NC_000017.10:g.59761242G= , CM000679.1:g.59761242G= GRCh37
NC_000017.9:g.57116024G= NCBI36
NG_007409.2:g.184679C= , LRG_300:g.184679C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1905C=
ENST00000682453.1:c.3165C= ENSP00000506943.1:p.Ser1055=
ENST00000682477.1:c.*2591C= ENSP00000507075.1:n.*2591C=
ENST00000682589.1:n.9042C=
ENST00000682755.1:c.2943C= ENSP00000507660.1:p.Ser981=
ENST00000682989.1:c.*256C= ENSP00000507786.1:n.*256C=
ENST00000683039.1:c.3165C= ENSP00000508303.1:p.Ser1055=
ENST00000683235.1:c.*580C= ENSP00000507646.1:n.*580C=
ENST00000683535.1:n.1295C=
ENST00000684584.1:c.2328C= ENSP00000508044.1:p.Ser776=
ENST00000684626.1:n.1411C=
ENST00000684769.1:c.1355C= ENSP00000507691.1:n.1355C=
ENST00000259008.7:c.3165C= MANE Select ENSP00000259008.2:p.Ser1055=
ENST00000259008.6:c.3165C= ENSP00000259008.2:p.Ser1055=
NM_032043.2:c.3165C= , LRG_300t1:c.3165C= NP_114432.2:p.Ser1055=
XM_011525332.1:c.3225C= XP_011523634.1:p.Ser1075=
XM_011525333.1:c.3225C= XP_011523635.1:p.Ser1075=
XM_011525334.1:c.3225C= XP_011523636.1:p.Ser1075=
XM_011525335.1:c.3165C= XP_011523637.1:p.Ser1055=
XM_011525336.1:c.3105C= XP_011523638.1:p.Ser1035=
XM_011525337.1:c.3024C= XP_011523639.1:p.Ser1008=
XM_011525338.1:c.2742C= XP_011523640.1:p.Ser914=
XM_011525332.3:c.3225C= XP_011523634.1:p.Ser1075=
XM_011525333.3:c.3225C= XP_011523635.1:p.Ser1075=
XM_011525334.2:c.3225C= XP_011523636.1:p.Ser1075=
XM_011525335.3:c.3165C= XP_011523637.1:p.Ser1055=
XM_011525336.2:c.3105C= XP_011523638.1:p.Ser1035=
XM_011525337.2:c.3024C= XP_011523639.1:p.Ser1008=
XM_011525338.2:c.2742C= XP_011523640.1:p.Ser914=
XM_017025200.1:c.2682C= XP_016880689.1:p.Ser894=
XM_017025201.1:c.2682C= XP_016880690.1:p.Ser894=
XM_017025202.1:c.1311C= XP_016880691.1:p.Ser437=
XM_017025203.1:c.1311C= XP_016880692.1:p.Ser437=
NM_032043.3:c.3165C= MANE Select NP_114432.2:p.Ser1055=