Canonical Allele Identifier: CA2269130957
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683736C= , CM000679.2:g.61683736C= GRCh38
NC_000017.10:g.59761097C= , CM000679.1:g.59761097C= GRCh37
NC_000017.9:g.57115879C= NCBI36
NG_007409.2:g.184824G= , LRG_300:g.184824G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2050G=
ENST00000682453.1:c.3310G= ENSP00000506943.1:p.Glu1104=
ENST00000682477.1:c.*2736G= ENSP00000507075.1:n.*2736G=
ENST00000682589.1:n.9187G=
ENST00000682755.1:c.3088G= ENSP00000507660.1:p.Glu1030=
ENST00000682989.1:c.*401G= ENSP00000507786.1:n.*401G=
ENST00000683039.1:c.3310G= ENSP00000508303.1:p.Glu1104=
ENST00000683235.1:c.*725G= ENSP00000507646.1:n.*725G=
ENST00000683535.1:n.1440G=
ENST00000684584.1:c.2473G= ENSP00000508044.1:p.Glu825=
ENST00000684626.1:n.1556G=
ENST00000684769.1:c.1500G= ENSP00000507691.1:n.1500G=
ENST00000259008.7:c.3310G= MANE Select ENSP00000259008.2:p.Glu1104=
ENST00000259008.6:c.3310G= ENSP00000259008.2:p.Glu1104=
NM_032043.2:c.3310G= , LRG_300t1:c.3310G= NP_114432.2:p.Glu1104=
XM_011525332.1:c.3370G= XP_011523634.1:p.Glu1124=
XM_011525333.1:c.3370G= XP_011523635.1:p.Glu1124=
XM_011525334.1:c.3370G= XP_011523636.1:p.Glu1124=
XM_011525335.1:c.3310G= XP_011523637.1:p.Glu1104=
XM_011525336.1:c.3250G= XP_011523638.1:p.Glu1084=
XM_011525337.1:c.3169G= XP_011523639.1:p.Glu1057=
XM_011525338.1:c.2887G= XP_011523640.1:p.Glu963=
XM_011525332.3:c.3370G= XP_011523634.1:p.Glu1124=
XM_011525333.3:c.3370G= XP_011523635.1:p.Glu1124=
XM_011525334.2:c.3370G= XP_011523636.1:p.Glu1124=
XM_011525335.3:c.3310G= XP_011523637.1:p.Glu1104=
XM_011525336.2:c.3250G= XP_011523638.1:p.Glu1084=
XM_011525337.2:c.3169G= XP_011523639.1:p.Glu1057=
XM_011525338.2:c.2887G= XP_011523640.1:p.Glu963=
XM_017025200.1:c.2827G= XP_016880689.1:p.Glu943=
XM_017025201.1:c.2827G= XP_016880690.1:p.Glu943=
XM_017025202.1:c.1456G= XP_016880691.1:p.Glu486=
XM_017025203.1:c.1456G= XP_016880692.1:p.Glu486=
NM_032043.3:c.3310G= MANE Select NP_114432.2:p.Glu1104=