Canonical Allele Identifier: CA2269130870
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683598C= , CM000679.2:g.61683598C= GRCh38
NC_000017.10:g.59760959C= , CM000679.1:g.59760959C= GRCh37
NC_000017.9:g.57115741C= NCBI36
NG_007409.2:g.184962G= , LRG_300:g.184962G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2188G=
ENST00000682453.1:c.3448G= ENSP00000506943.1:p.Ala1150=
ENST00000682477.1:c.*2874G= ENSP00000507075.1:n.*2874G=
ENST00000682589.1:n.9325G=
ENST00000682755.1:c.3226G= ENSP00000507660.1:p.Ala1076=
ENST00000682989.1:c.*539G= ENSP00000507786.1:n.*539G=
ENST00000683039.1:c.3448G= ENSP00000508303.1:p.Ala1150=
ENST00000683235.1:c.*863G= ENSP00000507646.1:n.*863G=
ENST00000683535.1:n.1578G=
ENST00000684584.1:c.2611G= ENSP00000508044.1:p.Ala871=
ENST00000684626.1:n.1694G=
ENST00000684769.1:c.1638G= ENSP00000507691.1:n.1638G=
ENST00000259008.7:c.3448G= MANE Select ENSP00000259008.2:p.Ala1150=
ENST00000259008.6:c.3448G= ENSP00000259008.2:p.Ala1150=
NM_032043.2:c.3448G= , LRG_300t1:c.3448G= NP_114432.2:p.Ala1150=
XM_011525332.1:c.3508G= XP_011523634.1:p.Ala1170=
XM_011525333.1:c.3508G= XP_011523635.1:p.Ala1170=
XM_011525334.1:c.3508G= XP_011523636.1:p.Ala1170=
XM_011525335.1:c.3448G= XP_011523637.1:p.Ala1150=
XM_011525336.1:c.3388G= XP_011523638.1:p.Ala1130=
XM_011525337.1:c.3307G= XP_011523639.1:p.Ala1103=
XM_011525338.1:c.3025G= XP_011523640.1:p.Ala1009=
XM_011525332.3:c.3508G= XP_011523634.1:p.Ala1170=
XM_011525333.3:c.3508G= XP_011523635.1:p.Ala1170=
XM_011525334.2:c.3508G= XP_011523636.1:p.Ala1170=
XM_011525335.3:c.3448G= XP_011523637.1:p.Ala1150=
XM_011525336.2:c.3388G= XP_011523638.1:p.Ala1130=
XM_011525337.2:c.3307G= XP_011523639.1:p.Ala1103=
XM_011525338.2:c.3025G= XP_011523640.1:p.Ala1009=
XM_017025200.1:c.2965G= XP_016880689.1:p.Ala989=
XM_017025201.1:c.2965G= XP_016880690.1:p.Ala989=
XM_017025202.1:c.1594G= XP_016880691.1:p.Ala532=
XM_017025203.1:c.1594G= XP_016880692.1:p.Ala532=
NM_032043.3:c.3448G= MANE Select NP_114432.2:p.Ala1150=