Canonical Allele Identifier: CA400479858
Community Standard Title: NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683972G>T , CM000679.2:g.61683972G>T GRCh38
NC_000017.10:g.59761333G>T , CM000679.1:g.59761333G>T GRCh37
NC_000017.9:g.57116115G>T NCBI36
NG_007409.2:g.184588C>A , LRG_300:g.184588C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3074C>A MANE Select NP_114432.2:p.Ser1025Ter
ENST00000259008.7:c.3074C>A MANE Select ENSP00000259008.2:p.Ser1025Ter
NM_032043.2:c.3074C>A , LRG_300t1:c.3074C>A NP_114432.2:p.Ser1025Ter
ENST00000259008.6:c.3074C>A ENSP00000259008.2:p.Ser1025Ter
ENST00000682073.1:n.1814C>A
ENST00000682453.1:c.3074C>A ENSP00000506943.1:p.Ser1025Ter
ENST00000682477.1:c.*2500C>A ENSP00000507075.1:n.*2500C>A
ENST00000682589.1:n.8951C>A
ENST00000682755.1:c.2852C>A ENSP00000507660.1:p.Ser951Ter
ENST00000682989.1:c.*165C>A ENSP00000507786.1:n.*165C>A
ENST00000683039.1:c.3074C>A ENSP00000508303.1:p.Ser1025Ter
ENST00000683235.1:c.*489C>A ENSP00000507646.1:n.*489C>A
ENST00000683535.1:n.1204C>A
ENST00000684584.1:c.2237C>A ENSP00000508044.1:p.Ser746Ter
ENST00000684626.1:n.1320C>A
ENST00000684769.1:c.1264C>A ENSP00000507691.1:n.1264C>A
XM_011525332.1:c.3134C>A XP_011523634.1:p.Ser1045Ter
XM_011525332.3:c.3134C>A XP_011523634.1:p.Ser1045Ter
XM_011525333.1:c.3134C>A XP_011523635.1:p.Ser1045Ter
XM_011525333.3:c.3134C>A XP_011523635.1:p.Ser1045Ter
XM_011525334.1:c.3134C>A XP_011523636.1:p.Ser1045Ter
XM_011525334.2:c.3134C>A XP_011523636.1:p.Ser1045Ter
XM_011525335.1:c.3074C>A XP_011523637.1:p.Ser1025Ter
XM_011525335.3:c.3074C>A XP_011523637.1:p.Ser1025Ter
XM_011525336.1:c.3014C>A XP_011523638.1:p.Ser1005Ter
XM_011525336.2:c.3014C>A XP_011523638.1:p.Ser1005Ter
XM_011525337.1:c.2933C>A XP_011523639.1:p.Ser978Ter
XM_011525337.2:c.2933C>A XP_011523639.1:p.Ser978Ter
XM_011525338.1:c.2651C>A XP_011523640.1:p.Ser884Ter
XM_011525338.2:c.2651C>A XP_011523640.1:p.Ser884Ter
XM_017025200.1:c.2591C>A XP_016880689.1:p.Ser864Ter
XM_017025201.1:c.2591C>A XP_016880690.1:p.Ser864Ter
XM_017025202.1:c.1220C>A XP_016880691.1:p.Ser407Ter
XM_017025203.1:c.1220C>A XP_016880692.1:p.Ser407Ter