Canonical Allele Identifier: CA10649745
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324324
ClinVar RCV Id: RCV000319144
dbSNP Id: rs184666432

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61681428C>A , CM000679.2:g.61681428C>A GRCh38
NC_000017.10:g.59758789C>A , CM000679.1:g.59758789C>A GRCh37
NC_000017.9:g.57113571C>A NCBI36
NG_007409.2:g.187132G>T , LRG_300:g.187132G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682453.1:c.*1868G>T ENSP00000506943.1:n.*1868G>T
ENST00000682477.1:c.*5044G>T ENSP00000507075.1:n.*5044G>T
ENST00000682589.1:n.11495G>T
ENST00000682755.1:c.*1868G>T ENSP00000507660.1:n.*1868G>T
ENST00000682989.1:c.*2709G>T ENSP00000507786.1:n.*2709G>T
ENST00000683039.1:c.*1868G>T ENSP00000508303.1:n.*1868G>T
ENST00000683235.1:c.*3033G>T ENSP00000507646.1:n.*3033G>T
ENST00000683535.1:n.3748G>T
ENST00000259008.7:c.*1868G>T MANE Select ENSP00000259008.2:n.*1868G>T
ENST00000259008.6:c.*1868G>T ENSP00000259008.2:n.*1868G>T
NM_032043.2:c.*1868G>T , LRG_300t1:c.*1868G>T NP_114432.2:n.*1868G>T
XM_011525332.1:c.*1868G>T XP_011523634.1:n.*1868G>T
XM_011525333.1:c.*1868G>T XP_011523635.1:n.*1868G>T
XM_011525334.1:c.*1868G>T XP_011523636.1:n.*1868G>T
XM_011525335.1:c.*1868G>T XP_011523637.1:n.*1868G>T
XM_011525336.1:c.*1868G>T XP_011523638.1:n.*1868G>T
XM_011525337.1:c.*1868G>T XP_011523639.1:n.*1868G>T
XM_011525338.1:c.*1868G>T XP_011523640.1:n.*1868G>T
XM_011525332.3:c.*1868G>T XP_011523634.1:n.*1868G>T
XM_011525333.3:c.*1868G>T XP_011523635.1:n.*1868G>T
XM_011525334.2:c.*1868G>T XP_011523636.1:n.*1868G>T
XM_011525335.3:c.*1868G>T XP_011523637.1:n.*1868G>T
XM_011525336.2:c.*1868G>T XP_011523638.1:n.*1868G>T
XM_011525337.2:c.*1868G>T XP_011523639.1:n.*1868G>T
XM_011525338.2:c.*1868G>T XP_011523640.1:n.*1868G>T
XM_017025200.1:c.*1868G>T XP_016880689.1:n.*1868G>T
XM_017025201.1:c.*1868G>T XP_016880690.1:n.*1868G>T
XM_017025202.1:c.*1868G>T XP_016880691.1:n.*1868G>T
XM_017025203.1:c.*1868G>T XP_016880692.1:n.*1868G>T
NM_032043.3:c.*1868G>T MANE Select NP_114432.2:n.*1868G>T