Canonical Allele Identifier: CA8690353
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 461155
dbSNP Id: rs752850661

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683513T>A , CM000679.2:g.61683513T>A GRCh38
NC_000017.10:g.59760874T>A , CM000679.1:g.59760874T>A GRCh37
NC_000017.9:g.57115656T>A NCBI36
NG_007409.2:g.185047A>T , LRG_300:g.185047A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2273A>T
ENST00000682453.1:c.3533A>T ENSP00000506943.1:p.Glu1178Val
ENST00000682477.1:c.*2959A>T ENSP00000507075.1:n.*2959A>T
ENST00000682589.1:n.9410A>T
ENST00000682755.1:c.3311A>T ENSP00000507660.1:p.Glu1104Val
ENST00000682989.1:c.*624A>T ENSP00000507786.1:n.*624A>T
ENST00000683039.1:c.3533A>T ENSP00000508303.1:p.Glu1178Val
ENST00000683235.1:c.*948A>T ENSP00000507646.1:n.*948A>T
ENST00000683535.1:n.1663A>T
ENST00000684584.1:c.2696A>T ENSP00000508044.1:p.Glu899Val
ENST00000684626.1:n.1779A>T
ENST00000684769.1:c.1723A>T ENSP00000507691.1:n.1723A>T
ENST00000259008.7:c.3533A>T MANE Select ENSP00000259008.2:p.Glu1178Val
ENST00000259008.6:c.3533A>T ENSP00000259008.2:p.Glu1178Val
NM_032043.2:c.3533A>T , LRG_300t1:c.3533A>T NP_114432.2:p.Glu1178Val
XM_011525332.1:c.3593A>T XP_011523634.1:p.Glu1198Val
XM_011525333.1:c.3593A>T XP_011523635.1:p.Glu1198Val
XM_011525334.1:c.3593A>T XP_011523636.1:p.Glu1198Val
XM_011525335.1:c.3533A>T XP_011523637.1:p.Glu1178Val
XM_011525336.1:c.3473A>T XP_011523638.1:p.Glu1158Val
XM_011525337.1:c.3392A>T XP_011523639.1:p.Glu1131Val
XM_011525338.1:c.3110A>T XP_011523640.1:p.Glu1037Val
XM_011525332.3:c.3593A>T XP_011523634.1:p.Glu1198Val
XM_011525333.3:c.3593A>T XP_011523635.1:p.Glu1198Val
XM_011525334.2:c.3593A>T XP_011523636.1:p.Glu1198Val
XM_011525335.3:c.3533A>T XP_011523637.1:p.Glu1178Val
XM_011525336.2:c.3473A>T XP_011523638.1:p.Glu1158Val
XM_011525337.2:c.3392A>T XP_011523639.1:p.Glu1131Val
XM_011525338.2:c.3110A>T XP_011523640.1:p.Glu1037Val
XM_017025200.1:c.3050A>T XP_016880689.1:p.Glu1017Val
XM_017025201.1:c.3050A>T XP_016880690.1:p.Glu1017Val
XM_017025202.1:c.1679A>T XP_016880691.1:p.Glu560Val
XM_017025203.1:c.1679A>T XP_016880692.1:p.Glu560Val
NM_032043.3:c.3533A>T MANE Select NP_114432.2:p.Glu1178Val