Canonical Allele Identifier: CA501151772
Community Standard Title: NM_032043.3(BRIP1):c.1092C>A (p.Ile364=)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61801301G>T , CM000679.2:g.61801301G>T GRCh38
NC_000017.10:g.59878662G>T , CM000679.1:g.59878662G>T GRCh37
NC_000017.9:g.57233444G>T NCBI36
NG_007409.2:g.67259C>A , LRG_300:g.67259C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.1092C>A MANE Select NP_114432.2:p.Ile364=
ENST00000259008.7:c.1092C>A MANE Select ENSP00000259008.2:p.Ile364=
NM_032043.2:c.1092C>A , LRG_300t1:c.1092C>A NP_114432.2:p.Ile364=
ENST00000259008.6:c.1092C>A ENSP00000259008.2:p.Ile364=
ENST00000577598.5:c.1092C>A ENSP00000464654.1:p.Ile364=
ENST00000579028.2:c.585C>A ENSP00000463827.2:p.Ile195=
ENST00000584322.2:c.1092C>A ENSP00000463272.2:p.Ile364=
ENST00000682066.1:c.585C>A ENSP00000507191.1:p.Ile195=
ENST00000682453.1:c.1092C>A ENSP00000506943.1:p.Ile364=
ENST00000682477.1:c.1092C>A ENSP00000507075.1:p.Ile364=
ENST00000682589.1:n.2833C>A
ENST00000682611.1:c.585C>A ENSP00000508326.1:p.Ile195=
ENST00000682755.1:c.919-2002C>A ENSP00000507660.1:n.919-2002C>A
ENST00000682989.1:c.1092C>A ENSP00000507786.1:p.Ile364=
ENST00000683039.1:c.1092C>A ENSP00000508303.1:p.Ile364=
ENST00000683235.1:c.1092C>A ENSP00000507646.1:p.Ile364=
ENST00000683381.1:c.1092C>A ENSP00000508184.1:p.Ile364=
ENST00000683692.1:c.670C>A ENSP00000507964.1:n.670C>A
ENST00000684584.1:c.585C>A ENSP00000508044.1:p.Ile195=
XM_011525332.1:c.1092C>A XP_011523634.1:p.Ile364=
XM_011525332.3:c.1092C>A XP_011523634.1:p.Ile364=
XM_011525333.1:c.1092C>A XP_011523635.1:p.Ile364=
XM_011525333.3:c.1092C>A XP_011523635.1:p.Ile364=
XM_011525334.1:c.1092C>A XP_011523636.1:p.Ile364=
XM_011525334.2:c.1092C>A XP_011523636.1:p.Ile364=
XM_011525335.1:c.1092C>A XP_011523637.1:p.Ile364=
XM_011525335.3:c.1092C>A XP_011523637.1:p.Ile364=
XM_011525336.1:c.1092C>A XP_011523638.1:p.Ile364=
XM_011525336.2:c.1092C>A XP_011523638.1:p.Ile364=
XM_011525337.1:c.1092C>A XP_011523639.1:p.Ile364=
XM_011525337.2:c.1092C>A XP_011523639.1:p.Ile364=
XM_011525338.1:c.609C>A XP_011523640.1:p.Ile203=
XM_011525338.2:c.609C>A XP_011523640.1:p.Ile203=
XM_011525339.1:c.1092C>A XP_011523641.1:p.Ile364=
XM_011525339.3:c.1092C>A XP_011523641.1:p.Ile364=
XM_011525340.1:c.1092C>A XP_011523642.1:p.Ile364=
XM_011525340.3:c.1092C>A XP_011523642.1:p.Ile364=
XM_011525341.1:c.1092C>A XP_011523643.1:p.Ile364=
XM_011525341.3:c.1092C>A XP_011523643.1:p.Ile364=
XM_017025200.1:c.609C>A XP_016880689.1:p.Ile203=
XM_017025201.1:c.549C>A XP_016880690.1:p.Ile183=