Canonical Allele Identifier: CA400480009
Community Standard Title: NM_032043.3(BRIP1):c.3006G>A (p.Trp1002Ter)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61684040C>T , CM000679.2:g.61684040C>T GRCh38
NC_000017.10:g.59761401C>T , CM000679.1:g.59761401C>T GRCh37
NC_000017.9:g.57116183C>T NCBI36
NG_007409.2:g.184520G>A , LRG_300:g.184520G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3006G>A MANE Select NP_114432.2:p.Trp1002Ter
ENST00000259008.7:c.3006G>A MANE Select ENSP00000259008.2:p.Trp1002Ter
NM_032043.2:c.3006G>A , LRG_300t1:c.3006G>A NP_114432.2:p.Trp1002Ter
ENST00000259008.6:c.3006G>A ENSP00000259008.2:p.Trp1002Ter
ENST00000682073.1:n.1746G>A
ENST00000682453.1:c.3006G>A ENSP00000506943.1:p.Trp1002Ter
ENST00000682477.1:c.*2432G>A ENSP00000507075.1:n.*2432G>A
ENST00000682589.1:n.8883G>A
ENST00000682755.1:c.2784G>A ENSP00000507660.1:p.Trp928Ter
ENST00000682989.1:c.*97G>A ENSP00000507786.1:n.*97G>A
ENST00000683039.1:c.3006G>A ENSP00000508303.1:p.Trp1002Ter
ENST00000683235.1:c.*421G>A ENSP00000507646.1:n.*421G>A
ENST00000683535.1:n.1136G>A
ENST00000684584.1:c.2169G>A ENSP00000508044.1:p.Trp723Ter
ENST00000684626.1:n.1252G>A
ENST00000684769.1:c.1196G>A ENSP00000507691.1:n.1196G>A
XM_011525332.1:c.3066G>A XP_011523634.1:p.Trp1022Ter
XM_011525332.3:c.3066G>A XP_011523634.1:p.Trp1022Ter
XM_011525333.1:c.3066G>A XP_011523635.1:p.Trp1022Ter
XM_011525333.3:c.3066G>A XP_011523635.1:p.Trp1022Ter
XM_011525334.1:c.3066G>A XP_011523636.1:p.Trp1022Ter
XM_011525334.2:c.3066G>A XP_011523636.1:p.Trp1022Ter
XM_011525335.1:c.3006G>A XP_011523637.1:p.Trp1002Ter
XM_011525335.3:c.3006G>A XP_011523637.1:p.Trp1002Ter
XM_011525336.1:c.2946G>A XP_011523638.1:p.Trp982Ter
XM_011525336.2:c.2946G>A XP_011523638.1:p.Trp982Ter
XM_011525337.1:c.2865G>A XP_011523639.1:p.Trp955Ter
XM_011525337.2:c.2865G>A XP_011523639.1:p.Trp955Ter
XM_011525338.1:c.2583G>A XP_011523640.1:p.Trp861Ter
XM_011525338.2:c.2583G>A XP_011523640.1:p.Trp861Ter
XM_017025200.1:c.2523G>A XP_016880689.1:p.Trp841Ter
XM_017025201.1:c.2523G>A XP_016880690.1:p.Trp841Ter
XM_017025202.1:c.1152G>A XP_016880691.1:p.Trp384Ter
XM_017025203.1:c.1152G>A XP_016880692.1:p.Trp384Ter