Canonical Allele Identifier: CA2269131061
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683902G= , CM000679.2:g.61683902G= GRCh38
NC_000017.10:g.59761263G= , CM000679.1:g.59761263G= GRCh37
NC_000017.9:g.57116045G= NCBI36
NG_007409.2:g.184658C= , LRG_300:g.184658C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1884C=
ENST00000682453.1:c.3144C= ENSP00000506943.1:p.Pro1048=
ENST00000682477.1:c.*2570C= ENSP00000507075.1:n.*2570C=
ENST00000682589.1:n.9021C=
ENST00000682755.1:c.2922C= ENSP00000507660.1:p.Pro974=
ENST00000682989.1:c.*235C= ENSP00000507786.1:n.*235C=
ENST00000683039.1:c.3144C= ENSP00000508303.1:p.Pro1048=
ENST00000683235.1:c.*559C= ENSP00000507646.1:n.*559C=
ENST00000683535.1:n.1274C=
ENST00000684584.1:c.2307C= ENSP00000508044.1:p.Pro769=
ENST00000684626.1:n.1390C=
ENST00000684769.1:c.1334C= ENSP00000507691.1:n.1334C=
ENST00000259008.7:c.3144C= MANE Select ENSP00000259008.2:p.Pro1048=
ENST00000259008.6:c.3144C= ENSP00000259008.2:p.Pro1048=
NM_032043.2:c.3144C= , LRG_300t1:c.3144C= NP_114432.2:p.Pro1048=
XM_011525332.1:c.3204C= XP_011523634.1:p.Pro1068=
XM_011525333.1:c.3204C= XP_011523635.1:p.Pro1068=
XM_011525334.1:c.3204C= XP_011523636.1:p.Pro1068=
XM_011525335.1:c.3144C= XP_011523637.1:p.Pro1048=
XM_011525336.1:c.3084C= XP_011523638.1:p.Pro1028=
XM_011525337.1:c.3003C= XP_011523639.1:p.Pro1001=
XM_011525338.1:c.2721C= XP_011523640.1:p.Pro907=
XM_011525332.3:c.3204C= XP_011523634.1:p.Pro1068=
XM_011525333.3:c.3204C= XP_011523635.1:p.Pro1068=
XM_011525334.2:c.3204C= XP_011523636.1:p.Pro1068=
XM_011525335.3:c.3144C= XP_011523637.1:p.Pro1048=
XM_011525336.2:c.3084C= XP_011523638.1:p.Pro1028=
XM_011525337.2:c.3003C= XP_011523639.1:p.Pro1001=
XM_011525338.2:c.2721C= XP_011523640.1:p.Pro907=
XM_017025200.1:c.2661C= XP_016880689.1:p.Pro887=
XM_017025201.1:c.2661C= XP_016880690.1:p.Pro887=
XM_017025202.1:c.1290C= XP_016880691.1:p.Pro430=
XM_017025203.1:c.1290C= XP_016880692.1:p.Pro430=
NM_032043.3:c.3144C= MANE Select NP_114432.2:p.Pro1048=