Canonical Allele Identifier: CA2269131075
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683924A= , CM000679.2:g.61683924A= GRCh38
NC_000017.10:g.59761285A= , CM000679.1:g.59761285A= GRCh37
NC_000017.9:g.57116067A= NCBI36
NG_007409.2:g.184636T= , LRG_300:g.184636T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1862T=
ENST00000682453.1:c.3122T= ENSP00000506943.1:p.Met1041=
ENST00000682477.1:c.*2548T= ENSP00000507075.1:n.*2548T=
ENST00000682589.1:n.8999T=
ENST00000682755.1:c.2900T= ENSP00000507660.1:p.Met967=
ENST00000682989.1:c.*213T= ENSP00000507786.1:n.*213T=
ENST00000683039.1:c.3122T= ENSP00000508303.1:p.Met1041=
ENST00000683235.1:c.*537T= ENSP00000507646.1:n.*537T=
ENST00000683535.1:n.1252T=
ENST00000684584.1:c.2285T= ENSP00000508044.1:p.Met762=
ENST00000684626.1:n.1368T=
ENST00000684769.1:c.1312T= ENSP00000507691.1:n.1312T=
ENST00000259008.7:c.3122T= MANE Select ENSP00000259008.2:p.Met1041=
ENST00000259008.6:c.3122T= ENSP00000259008.2:p.Met1041=
NM_032043.2:c.3122T= , LRG_300t1:c.3122T= NP_114432.2:p.Met1041=
XM_011525332.1:c.3182T= XP_011523634.1:p.Met1061=
XM_011525333.1:c.3182T= XP_011523635.1:p.Met1061=
XM_011525334.1:c.3182T= XP_011523636.1:p.Met1061=
XM_011525335.1:c.3122T= XP_011523637.1:p.Met1041=
XM_011525336.1:c.3062T= XP_011523638.1:p.Met1021=
XM_011525337.1:c.2981T= XP_011523639.1:p.Met994=
XM_011525338.1:c.2699T= XP_011523640.1:p.Met900=
XM_011525332.3:c.3182T= XP_011523634.1:p.Met1061=
XM_011525333.3:c.3182T= XP_011523635.1:p.Met1061=
XM_011525334.2:c.3182T= XP_011523636.1:p.Met1061=
XM_011525335.3:c.3122T= XP_011523637.1:p.Met1041=
XM_011525336.2:c.3062T= XP_011523638.1:p.Met1021=
XM_011525337.2:c.2981T= XP_011523639.1:p.Met994=
XM_011525338.2:c.2699T= XP_011523640.1:p.Met900=
XM_017025200.1:c.2639T= XP_016880689.1:p.Met880=
XM_017025201.1:c.2639T= XP_016880690.1:p.Met880=
XM_017025202.1:c.1268T= XP_016880691.1:p.Met423=
XM_017025203.1:c.1268T= XP_016880692.1:p.Met423=
NM_032043.3:c.3122T= MANE Select NP_114432.2:p.Met1041=