Canonical Allele Identifier: CA2269130961
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683740G= , CM000679.2:g.61683740G= GRCh38
NC_000017.10:g.59761101G= , CM000679.1:g.59761101G= GRCh37
NC_000017.9:g.57115883G= NCBI36
NG_007409.2:g.184820C= , LRG_300:g.184820C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2046C=
ENST00000682453.1:c.3306C= ENSP00000506943.1:p.Asp1102=
ENST00000682477.1:c.*2732C= ENSP00000507075.1:n.*2732C=
ENST00000682589.1:n.9183C=
ENST00000682755.1:c.3084C= ENSP00000507660.1:p.Asp1028=
ENST00000682989.1:c.*397C= ENSP00000507786.1:n.*397C=
ENST00000683039.1:c.3306C= ENSP00000508303.1:p.Asp1102=
ENST00000683235.1:c.*721C= ENSP00000507646.1:n.*721C=
ENST00000683535.1:n.1436C=
ENST00000684584.1:c.2469C= ENSP00000508044.1:p.Asp823=
ENST00000684626.1:n.1552C=
ENST00000684769.1:c.1496C= ENSP00000507691.1:n.1496C=
ENST00000259008.7:c.3306C= MANE Select ENSP00000259008.2:p.Asp1102=
ENST00000259008.6:c.3306C= ENSP00000259008.2:p.Asp1102=
NM_032043.2:c.3306C= , LRG_300t1:c.3306C= NP_114432.2:p.Asp1102=
XM_011525332.1:c.3366C= XP_011523634.1:p.Asp1122=
XM_011525333.1:c.3366C= XP_011523635.1:p.Asp1122=
XM_011525334.1:c.3366C= XP_011523636.1:p.Asp1122=
XM_011525335.1:c.3306C= XP_011523637.1:p.Asp1102=
XM_011525336.1:c.3246C= XP_011523638.1:p.Asp1082=
XM_011525337.1:c.3165C= XP_011523639.1:p.Asp1055=
XM_011525338.1:c.2883C= XP_011523640.1:p.Asp961=
XM_011525332.3:c.3366C= XP_011523634.1:p.Asp1122=
XM_011525333.3:c.3366C= XP_011523635.1:p.Asp1122=
XM_011525334.2:c.3366C= XP_011523636.1:p.Asp1122=
XM_011525335.3:c.3306C= XP_011523637.1:p.Asp1102=
XM_011525336.2:c.3246C= XP_011523638.1:p.Asp1082=
XM_011525337.2:c.3165C= XP_011523639.1:p.Asp1055=
XM_011525338.2:c.2883C= XP_011523640.1:p.Asp961=
XM_017025200.1:c.2823C= XP_016880689.1:p.Asp941=
XM_017025201.1:c.2823C= XP_016880690.1:p.Asp941=
XM_017025202.1:c.1452C= XP_016880691.1:p.Asp484=
XM_017025203.1:c.1452C= XP_016880692.1:p.Asp484=
NM_032043.3:c.3306C= MANE Select NP_114432.2:p.Asp1102=