Canonical Allele Identifier: CA400479331
Community Standard Title: NM_032043.3(BRIP1):c.3202C>T (p.Pro1068Ser)
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683844G>A , CM000679.2:g.61683844G>A GRCh38
NC_000017.10:g.59761205G>A , CM000679.1:g.59761205G>A GRCh37
NC_000017.9:g.57115987G>A NCBI36
NG_007409.2:g.184716C>T , LRG_300:g.184716C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032043.3:c.3202C>T MANE Select NP_114432.2:p.Pro1068Ser
ENST00000259008.7:c.3202C>T MANE Select ENSP00000259008.2:p.Pro1068Ser
NM_032043.2:c.3202C>T , LRG_300t1:c.3202C>T NP_114432.2:p.Pro1068Ser
ENST00000259008.6:c.3202C>T ENSP00000259008.2:p.Pro1068Ser
ENST00000682073.1:n.1942C>T
ENST00000682453.1:c.3202C>T ENSP00000506943.1:p.Pro1068Ser
ENST00000682477.1:c.*2628C>T ENSP00000507075.1:n.*2628C>T
ENST00000682589.1:n.9079C>T
ENST00000682755.1:c.2980C>T ENSP00000507660.1:p.Pro994Ser
ENST00000682989.1:c.*293C>T ENSP00000507786.1:n.*293C>T
ENST00000683039.1:c.3202C>T ENSP00000508303.1:p.Pro1068Ser
ENST00000683235.1:c.*617C>T ENSP00000507646.1:n.*617C>T
ENST00000683535.1:n.1332C>T
ENST00000684584.1:c.2365C>T ENSP00000508044.1:p.Pro789Ser
ENST00000684626.1:n.1448C>T
ENST00000684769.1:c.1392C>T ENSP00000507691.1:n.1392C>T
XM_011525332.1:c.3262C>T XP_011523634.1:p.Pro1088Ser
XM_011525332.3:c.3262C>T XP_011523634.1:p.Pro1088Ser
XM_011525333.1:c.3262C>T XP_011523635.1:p.Pro1088Ser
XM_011525333.3:c.3262C>T XP_011523635.1:p.Pro1088Ser
XM_011525334.1:c.3262C>T XP_011523636.1:p.Pro1088Ser
XM_011525334.2:c.3262C>T XP_011523636.1:p.Pro1088Ser
XM_011525335.1:c.3202C>T XP_011523637.1:p.Pro1068Ser
XM_011525335.3:c.3202C>T XP_011523637.1:p.Pro1068Ser
XM_011525336.1:c.3142C>T XP_011523638.1:p.Pro1048Ser
XM_011525336.2:c.3142C>T XP_011523638.1:p.Pro1048Ser
XM_011525337.1:c.3061C>T XP_011523639.1:p.Pro1021Ser
XM_011525337.2:c.3061C>T XP_011523639.1:p.Pro1021Ser
XM_011525338.1:c.2779C>T XP_011523640.1:p.Pro927Ser
XM_011525338.2:c.2779C>T XP_011523640.1:p.Pro927Ser
XM_017025200.1:c.2719C>T XP_016880689.1:p.Pro907Ser
XM_017025201.1:c.2719C>T XP_016880690.1:p.Pro907Ser
XM_017025202.1:c.1348C>T XP_016880691.1:p.Pro450Ser
XM_017025203.1:c.1348C>T XP_016880692.1:p.Pro450Ser