Canonical Allele Identifier: CA187468
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683947A>G , CM000679.2:g.61683947A>G GRCh38
NC_000017.10:g.59761308A>G , CM000679.1:g.59761308A>G GRCh37
NC_000017.9:g.57116090A>G NCBI36
NG_007409.2:g.184613T>C , LRG_300:g.184613T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1839T>C
ENST00000682453.1:c.3099T>C ENSP00000506943.1:p.Pro1033=
ENST00000682477.1:c.*2525T>C ENSP00000507075.1:n.*2525T>C
ENST00000682589.1:n.8976T>C
ENST00000682755.1:c.2877T>C ENSP00000507660.1:p.Pro959=
ENST00000682989.1:c.*190T>C ENSP00000507786.1:n.*190T>C
ENST00000683039.1:c.3099T>C ENSP00000508303.1:p.Pro1033=
ENST00000683235.1:c.*514T>C ENSP00000507646.1:n.*514T>C
ENST00000683535.1:n.1229T>C
ENST00000684584.1:c.2262T>C ENSP00000508044.1:p.Pro754=
ENST00000684626.1:n.1345T>C
ENST00000684769.1:c.1289T>C ENSP00000507691.1:n.1289T>C
ENST00000259008.7:c.3099T>C MANE Select ENSP00000259008.2:p.Pro1033=
ENST00000259008.6:c.3099T>C ENSP00000259008.2:p.Pro1033=
NM_032043.2:c.3099T>C , LRG_300t1:c.3099T>C NP_114432.2:p.Pro1033=
XM_011525332.1:c.3159T>C XP_011523634.1:p.Pro1053=
XM_011525333.1:c.3159T>C XP_011523635.1:p.Pro1053=
XM_011525334.1:c.3159T>C XP_011523636.1:p.Pro1053=
XM_011525335.1:c.3099T>C XP_011523637.1:p.Pro1033=
XM_011525336.1:c.3039T>C XP_011523638.1:p.Pro1013=
XM_011525337.1:c.2958T>C XP_011523639.1:p.Pro986=
XM_011525338.1:c.2676T>C XP_011523640.1:p.Pro892=
XM_011525332.3:c.3159T>C XP_011523634.1:p.Pro1053=
XM_011525333.3:c.3159T>C XP_011523635.1:p.Pro1053=
XM_011525334.2:c.3159T>C XP_011523636.1:p.Pro1053=
XM_011525335.3:c.3099T>C XP_011523637.1:p.Pro1033=
XM_011525336.2:c.3039T>C XP_011523638.1:p.Pro1013=
XM_011525337.2:c.2958T>C XP_011523639.1:p.Pro986=
XM_011525338.2:c.2676T>C XP_011523640.1:p.Pro892=
XM_017025200.1:c.2616T>C XP_016880689.1:p.Pro872=
XM_017025201.1:c.2616T>C XP_016880690.1:p.Pro872=
XM_017025202.1:c.1245T>C XP_016880691.1:p.Pro415=
XM_017025203.1:c.1245T>C XP_016880692.1:p.Pro415=
NM_032043.3:c.3099T>C MANE Select NP_114432.2:p.Pro1033=