Canonical Allele Identifier: CA2269130958
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683737A= , CM000679.2:g.61683737A= GRCh38
NC_000017.10:g.59761098A= , CM000679.1:g.59761098A= GRCh37
NC_000017.9:g.57115880A= NCBI36
NG_007409.2:g.184823T= , LRG_300:g.184823T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2049T=
ENST00000682453.1:c.3309T= ENSP00000506943.1:p.Ile1103=
ENST00000682477.1:c.*2735T= ENSP00000507075.1:n.*2735T=
ENST00000682589.1:n.9186T=
ENST00000682755.1:c.3087T= ENSP00000507660.1:p.Ile1029=
ENST00000682989.1:c.*400T= ENSP00000507786.1:n.*400T=
ENST00000683039.1:c.3309T= ENSP00000508303.1:p.Ile1103=
ENST00000683235.1:c.*724T= ENSP00000507646.1:n.*724T=
ENST00000683535.1:n.1439T=
ENST00000684584.1:c.2472T= ENSP00000508044.1:p.Ile824=
ENST00000684626.1:n.1555T=
ENST00000684769.1:c.1499T= ENSP00000507691.1:n.1499T=
ENST00000259008.7:c.3309T= MANE Select ENSP00000259008.2:p.Ile1103=
ENST00000259008.6:c.3309T= ENSP00000259008.2:p.Ile1103=
NM_032043.2:c.3309T= , LRG_300t1:c.3309T= NP_114432.2:p.Ile1103=
XM_011525332.1:c.3369T= XP_011523634.1:p.Ile1123=
XM_011525333.1:c.3369T= XP_011523635.1:p.Ile1123=
XM_011525334.1:c.3369T= XP_011523636.1:p.Ile1123=
XM_011525335.1:c.3309T= XP_011523637.1:p.Ile1103=
XM_011525336.1:c.3249T= XP_011523638.1:p.Ile1083=
XM_011525337.1:c.3168T= XP_011523639.1:p.Ile1056=
XM_011525338.1:c.2886T= XP_011523640.1:p.Ile962=
XM_011525332.3:c.3369T= XP_011523634.1:p.Ile1123=
XM_011525333.3:c.3369T= XP_011523635.1:p.Ile1123=
XM_011525334.2:c.3369T= XP_011523636.1:p.Ile1123=
XM_011525335.3:c.3309T= XP_011523637.1:p.Ile1103=
XM_011525336.2:c.3249T= XP_011523638.1:p.Ile1083=
XM_011525337.2:c.3168T= XP_011523639.1:p.Ile1056=
XM_011525338.2:c.2886T= XP_011523640.1:p.Ile962=
XM_017025200.1:c.2826T= XP_016880689.1:p.Ile942=
XM_017025201.1:c.2826T= XP_016880690.1:p.Ile942=
XM_017025202.1:c.1455T= XP_016880691.1:p.Ile485=
XM_017025203.1:c.1455T= XP_016880692.1:p.Ile485=
NM_032043.3:c.3309T= MANE Select NP_114432.2:p.Ile1103=