Canonical Allele Identifier: CA400478712
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 836399
ClinVar RCV Id: RCV001037518
dbSNP Id: rs2061306531

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683603T>C , CM000679.2:g.61683603T>C GRCh38
NC_000017.10:g.59760964T>C , CM000679.1:g.59760964T>C GRCh37
NC_000017.9:g.57115746T>C NCBI36
NG_007409.2:g.184957A>G , LRG_300:g.184957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2183A>G
ENST00000682453.1:c.3443A>G ENSP00000506943.1:p.Asp1148Gly
ENST00000682477.1:c.*2869A>G ENSP00000507075.1:n.*2869A>G
ENST00000682589.1:n.9320A>G
ENST00000682755.1:c.3221A>G ENSP00000507660.1:p.Asp1074Gly
ENST00000682989.1:c.*534A>G ENSP00000507786.1:n.*534A>G
ENST00000683039.1:c.3443A>G ENSP00000508303.1:p.Asp1148Gly
ENST00000683235.1:c.*858A>G ENSP00000507646.1:n.*858A>G
ENST00000683535.1:n.1573A>G
ENST00000684584.1:c.2606A>G ENSP00000508044.1:p.Asp869Gly
ENST00000684626.1:n.1689A>G
ENST00000684769.1:c.1633A>G ENSP00000507691.1:n.1633A>G
ENST00000259008.7:c.3443A>G MANE Select ENSP00000259008.2:p.Asp1148Gly
ENST00000259008.6:c.3443A>G ENSP00000259008.2:p.Asp1148Gly
NM_032043.2:c.3443A>G , LRG_300t1:c.3443A>G NP_114432.2:p.Asp1148Gly
XM_011525332.1:c.3503A>G XP_011523634.1:p.Asp1168Gly
XM_011525333.1:c.3503A>G XP_011523635.1:p.Asp1168Gly
XM_011525334.1:c.3503A>G XP_011523636.1:p.Asp1168Gly
XM_011525335.1:c.3443A>G XP_011523637.1:p.Asp1148Gly
XM_011525336.1:c.3383A>G XP_011523638.1:p.Asp1128Gly
XM_011525337.1:c.3302A>G XP_011523639.1:p.Asp1101Gly
XM_011525338.1:c.3020A>G XP_011523640.1:p.Asp1007Gly
XM_011525332.3:c.3503A>G XP_011523634.1:p.Asp1168Gly
XM_011525333.3:c.3503A>G XP_011523635.1:p.Asp1168Gly
XM_011525334.2:c.3503A>G XP_011523636.1:p.Asp1168Gly
XM_011525335.3:c.3443A>G XP_011523637.1:p.Asp1148Gly
XM_011525336.2:c.3383A>G XP_011523638.1:p.Asp1128Gly
XM_011525337.2:c.3302A>G XP_011523639.1:p.Asp1101Gly
XM_011525338.2:c.3020A>G XP_011523640.1:p.Asp1007Gly
XM_017025200.1:c.2960A>G XP_016880689.1:p.Asp987Gly
XM_017025201.1:c.2960A>G XP_016880690.1:p.Asp987Gly
XM_017025202.1:c.1589A>G XP_016880691.1:p.Asp530Gly
XM_017025203.1:c.1589A>G XP_016880692.1:p.Asp530Gly
NM_032043.3:c.3443A>G MANE Select NP_114432.2:p.Asp1148Gly