Canonical Allele Identifier: CA2269131035
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683853C= , CM000679.2:g.61683853C= GRCh38
NC_000017.10:g.59761214C= , CM000679.1:g.59761214C= GRCh37
NC_000017.9:g.57115996C= NCBI36
NG_007409.2:g.184707G= , LRG_300:g.184707G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1933G=
ENST00000682453.1:c.3193G= ENSP00000506943.1:p.Gly1065=
ENST00000682477.1:c.*2619G= ENSP00000507075.1:n.*2619G=
ENST00000682589.1:n.9070G=
ENST00000682755.1:c.2971G= ENSP00000507660.1:p.Gly991=
ENST00000682989.1:c.*284G= ENSP00000507786.1:n.*284G=
ENST00000683039.1:c.3193G= ENSP00000508303.1:p.Gly1065=
ENST00000683235.1:c.*608G= ENSP00000507646.1:n.*608G=
ENST00000683535.1:n.1323G=
ENST00000684584.1:c.2356G= ENSP00000508044.1:p.Gly786=
ENST00000684626.1:n.1439G=
ENST00000684769.1:c.1383G= ENSP00000507691.1:n.1383G=
ENST00000259008.7:c.3193G= MANE Select ENSP00000259008.2:p.Gly1065=
ENST00000259008.6:c.3193G= ENSP00000259008.2:p.Gly1065=
NM_032043.2:c.3193G= , LRG_300t1:c.3193G= NP_114432.2:p.Gly1065=
XM_011525332.1:c.3253G= XP_011523634.1:p.Gly1085=
XM_011525333.1:c.3253G= XP_011523635.1:p.Gly1085=
XM_011525334.1:c.3253G= XP_011523636.1:p.Gly1085=
XM_011525335.1:c.3193G= XP_011523637.1:p.Gly1065=
XM_011525336.1:c.3133G= XP_011523638.1:p.Gly1045=
XM_011525337.1:c.3052G= XP_011523639.1:p.Gly1018=
XM_011525338.1:c.2770G= XP_011523640.1:p.Gly924=
XM_011525332.3:c.3253G= XP_011523634.1:p.Gly1085=
XM_011525333.3:c.3253G= XP_011523635.1:p.Gly1085=
XM_011525334.2:c.3253G= XP_011523636.1:p.Gly1085=
XM_011525335.3:c.3193G= XP_011523637.1:p.Gly1065=
XM_011525336.2:c.3133G= XP_011523638.1:p.Gly1045=
XM_011525337.2:c.3052G= XP_011523639.1:p.Gly1018=
XM_011525338.2:c.2770G= XP_011523640.1:p.Gly924=
XM_017025200.1:c.2710G= XP_016880689.1:p.Gly904=
XM_017025201.1:c.2710G= XP_016880690.1:p.Gly904=
XM_017025202.1:c.1339G= XP_016880691.1:p.Gly447=
XM_017025203.1:c.1339G= XP_016880692.1:p.Gly447=
NM_032043.3:c.3193G= MANE Select NP_114432.2:p.Gly1065=