Canonical Allele Identifier: CA2269130983
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683772G= , CM000679.2:g.61683772G= GRCh38
NC_000017.10:g.59761133G= , CM000679.1:g.59761133G= GRCh37
NC_000017.9:g.57115915G= NCBI36
NG_007409.2:g.184788C= , LRG_300:g.184788C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2014C=
ENST00000682453.1:c.3274C= ENSP00000506943.1:p.Pro1092=
ENST00000682477.1:c.*2700C= ENSP00000507075.1:n.*2700C=
ENST00000682589.1:n.9151C=
ENST00000682755.1:c.3052C= ENSP00000507660.1:p.Pro1018=
ENST00000682989.1:c.*365C= ENSP00000507786.1:n.*365C=
ENST00000683039.1:c.3274C= ENSP00000508303.1:p.Pro1092=
ENST00000683235.1:c.*689C= ENSP00000507646.1:n.*689C=
ENST00000683535.1:n.1404C=
ENST00000684584.1:c.2437C= ENSP00000508044.1:p.Pro813=
ENST00000684626.1:n.1520C=
ENST00000684769.1:c.1464C= ENSP00000507691.1:n.1464C=
ENST00000259008.7:c.3274C= MANE Select ENSP00000259008.2:p.Pro1092=
ENST00000259008.6:c.3274C= ENSP00000259008.2:p.Pro1092=
NM_032043.2:c.3274C= , LRG_300t1:c.3274C= NP_114432.2:p.Pro1092=
XM_011525332.1:c.3334C= XP_011523634.1:p.Pro1112=
XM_011525333.1:c.3334C= XP_011523635.1:p.Pro1112=
XM_011525334.1:c.3334C= XP_011523636.1:p.Pro1112=
XM_011525335.1:c.3274C= XP_011523637.1:p.Pro1092=
XM_011525336.1:c.3214C= XP_011523638.1:p.Pro1072=
XM_011525337.1:c.3133C= XP_011523639.1:p.Pro1045=
XM_011525338.1:c.2851C= XP_011523640.1:p.Pro951=
XM_011525332.3:c.3334C= XP_011523634.1:p.Pro1112=
XM_011525333.3:c.3334C= XP_011523635.1:p.Pro1112=
XM_011525334.2:c.3334C= XP_011523636.1:p.Pro1112=
XM_011525335.3:c.3274C= XP_011523637.1:p.Pro1092=
XM_011525336.2:c.3214C= XP_011523638.1:p.Pro1072=
XM_011525337.2:c.3133C= XP_011523639.1:p.Pro1045=
XM_011525338.2:c.2851C= XP_011523640.1:p.Pro951=
XM_017025200.1:c.2791C= XP_016880689.1:p.Pro931=
XM_017025201.1:c.2791C= XP_016880690.1:p.Pro931=
XM_017025202.1:c.1420C= XP_016880691.1:p.Pro474=
XM_017025203.1:c.1420C= XP_016880692.1:p.Pro474=
NM_032043.3:c.3274C= MANE Select NP_114432.2:p.Pro1092=