Canonical Allele Identifier: CA2269131167
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684072T= , CM000679.2:g.61684072T= GRCh38
NC_000017.10:g.59761433T= , CM000679.1:g.59761433T= GRCh37
NC_000017.9:g.57116215T= NCBI36
NG_007409.2:g.184488A= , LRG_300:g.184488A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1714A=
ENST00000682453.1:c.2974A= ENSP00000506943.1:p.Thr992=
ENST00000682477.1:c.*2400A= ENSP00000507075.1:n.*2400A=
ENST00000682589.1:n.8851A=
ENST00000682755.1:c.2752A= ENSP00000507660.1:p.Thr918=
ENST00000682989.1:c.*65A= ENSP00000507786.1:n.*65A=
ENST00000683039.1:c.2974A= ENSP00000508303.1:p.Thr992=
ENST00000683235.1:c.*389A= ENSP00000507646.1:n.*389A=
ENST00000683535.1:n.1104A=
ENST00000684584.1:c.2137A= ENSP00000508044.1:p.Thr713=
ENST00000684626.1:n.1220A=
ENST00000684769.1:c.1164A= ENSP00000507691.1:n.1164A=
ENST00000259008.7:c.2974A= MANE Select ENSP00000259008.2:p.Thr992=
ENST00000259008.6:c.2974A= ENSP00000259008.2:p.Thr992=
NM_032043.2:c.2974A= , LRG_300t1:c.2974A= NP_114432.2:p.Thr992=
XM_011525332.1:c.3034A= XP_011523634.1:p.Thr1012=
XM_011525333.1:c.3034A= XP_011523635.1:p.Thr1012=
XM_011525334.1:c.3034A= XP_011523636.1:p.Thr1012=
XM_011525335.1:c.2974A= XP_011523637.1:p.Thr992=
XM_011525336.1:c.2914A= XP_011523638.1:p.Thr972=
XM_011525337.1:c.2833A= XP_011523639.1:p.Thr945=
XM_011525338.1:c.2551A= XP_011523640.1:p.Thr851=
XM_011525332.3:c.3034A= XP_011523634.1:p.Thr1012=
XM_011525333.3:c.3034A= XP_011523635.1:p.Thr1012=
XM_011525334.2:c.3034A= XP_011523636.1:p.Thr1012=
XM_011525335.3:c.2974A= XP_011523637.1:p.Thr992=
XM_011525336.2:c.2914A= XP_011523638.1:p.Thr972=
XM_011525337.2:c.2833A= XP_011523639.1:p.Thr945=
XM_011525338.2:c.2551A= XP_011523640.1:p.Thr851=
XM_017025200.1:c.2491A= XP_016880689.1:p.Thr831=
XM_017025201.1:c.2491A= XP_016880690.1:p.Thr831=
XM_017025202.1:c.1120A= XP_016880691.1:p.Thr374=
XM_017025203.1:c.1120A= XP_016880692.1:p.Thr374=
NM_032043.3:c.2974A= MANE Select NP_114432.2:p.Thr992=