Canonical Allele Identifier: CA400479700
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683933G>C , CM000679.2:g.61683933G>C GRCh38
NC_000017.10:g.59761294G>C , CM000679.1:g.59761294G>C GRCh37
NC_000017.9:g.57116076G>C NCBI36
NG_007409.2:g.184627C>G , LRG_300:g.184627C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3113C>G MANE Select NP_114432.2:p.Thr1038Arg
ENST00000259008.7:c.3113C>G MANE Select ENSP00000259008.2:p.Thr1038Arg
NM_032043.2:c.3113C>G , LRG_300t1:c.3113C>G NP_114432.2:p.Thr1038Arg
ENST00000259008.6:c.3113C>G ENSP00000259008.2:p.Thr1038Arg
ENST00000682073.1:n.1853C>G
ENST00000682453.1:c.3113C>G ENSP00000506943.1:p.Thr1038Arg
ENST00000682477.1:c.*2539C>G ENSP00000507075.1:n.*2539C>G
ENST00000682589.1:n.8990C>G
ENST00000682755.1:c.2891C>G ENSP00000507660.1:p.Thr964Arg
ENST00000682989.1:c.*204C>G ENSP00000507786.1:n.*204C>G
ENST00000683039.1:c.3113C>G ENSP00000508303.1:p.Thr1038Arg
ENST00000683235.1:c.*528C>G ENSP00000507646.1:n.*528C>G
ENST00000683535.1:n.1243C>G
ENST00000684584.1:c.2276C>G ENSP00000508044.1:p.Thr759Arg
ENST00000684626.1:n.1359C>G
ENST00000684769.1:c.1303C>G ENSP00000507691.1:n.1303C>G
XM_011525332.1:c.3173C>G XP_011523634.1:p.Thr1058Arg
XM_011525332.3:c.3173C>G XP_011523634.1:p.Thr1058Arg
XM_011525333.1:c.3173C>G XP_011523635.1:p.Thr1058Arg
XM_011525333.3:c.3173C>G XP_011523635.1:p.Thr1058Arg
XM_011525334.1:c.3173C>G XP_011523636.1:p.Thr1058Arg
XM_011525334.2:c.3173C>G XP_011523636.1:p.Thr1058Arg
XM_011525335.1:c.3113C>G XP_011523637.1:p.Thr1038Arg
XM_011525335.3:c.3113C>G XP_011523637.1:p.Thr1038Arg
XM_011525336.1:c.3053C>G XP_011523638.1:p.Thr1018Arg
XM_011525336.2:c.3053C>G XP_011523638.1:p.Thr1018Arg
XM_011525337.1:c.2972C>G XP_011523639.1:p.Thr991Arg
XM_011525337.2:c.2972C>G XP_011523639.1:p.Thr991Arg
XM_011525338.1:c.2690C>G XP_011523640.1:p.Thr897Arg
XM_011525338.2:c.2690C>G XP_011523640.1:p.Thr897Arg
XM_017025200.1:c.2630C>G XP_016880689.1:p.Thr877Arg
XM_017025201.1:c.2630C>G XP_016880690.1:p.Thr877Arg
XM_017025202.1:c.1259C>G XP_016880691.1:p.Thr420Arg
XM_017025203.1:c.1259C>G XP_016880692.1:p.Thr420Arg