Canonical Allele Identifier: CA400478509
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs749589266

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683543T>A , CM000679.2:g.61683543T>A GRCh38
NC_000017.10:g.59760904T>A , CM000679.1:g.59760904T>A GRCh37
NC_000017.9:g.57115686T>A NCBI36
NG_007409.2:g.185017A>T , LRG_300:g.185017A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2243A>T
ENST00000682453.1:c.3503A>T ENSP00000506943.1:p.Lys1168Ile
ENST00000682477.1:c.*2929A>T ENSP00000507075.1:n.*2929A>T
ENST00000682589.1:n.9380A>T
ENST00000682755.1:c.3281A>T ENSP00000507660.1:p.Lys1094Ile
ENST00000682989.1:c.*594A>T ENSP00000507786.1:n.*594A>T
ENST00000683039.1:c.3503A>T ENSP00000508303.1:p.Lys1168Ile
ENST00000683235.1:c.*918A>T ENSP00000507646.1:n.*918A>T
ENST00000683535.1:n.1633A>T
ENST00000684584.1:c.2666A>T ENSP00000508044.1:p.Lys889Ile
ENST00000684626.1:n.1749A>T
ENST00000684769.1:c.1693A>T ENSP00000507691.1:n.1693A>T
ENST00000259008.7:c.3503A>T MANE Select ENSP00000259008.2:p.Lys1168Ile
ENST00000259008.6:c.3503A>T ENSP00000259008.2:p.Lys1168Ile
NM_032043.2:c.3503A>T , LRG_300t1:c.3503A>T NP_114432.2:p.Lys1168Ile
XM_011525332.1:c.3563A>T XP_011523634.1:p.Lys1188Ile
XM_011525333.1:c.3563A>T XP_011523635.1:p.Lys1188Ile
XM_011525334.1:c.3563A>T XP_011523636.1:p.Lys1188Ile
XM_011525335.1:c.3503A>T XP_011523637.1:p.Lys1168Ile
XM_011525336.1:c.3443A>T XP_011523638.1:p.Lys1148Ile
XM_011525337.1:c.3362A>T XP_011523639.1:p.Lys1121Ile
XM_011525338.1:c.3080A>T XP_011523640.1:p.Lys1027Ile
XM_011525332.3:c.3563A>T XP_011523634.1:p.Lys1188Ile
XM_011525333.3:c.3563A>T XP_011523635.1:p.Lys1188Ile
XM_011525334.2:c.3563A>T XP_011523636.1:p.Lys1188Ile
XM_011525335.3:c.3503A>T XP_011523637.1:p.Lys1168Ile
XM_011525336.2:c.3443A>T XP_011523638.1:p.Lys1148Ile
XM_011525337.2:c.3362A>T XP_011523639.1:p.Lys1121Ile
XM_011525338.2:c.3080A>T XP_011523640.1:p.Lys1027Ile
XM_017025200.1:c.3020A>T XP_016880689.1:p.Lys1007Ile
XM_017025201.1:c.3020A>T XP_016880690.1:p.Lys1007Ile
XM_017025202.1:c.1649A>T XP_016880691.1:p.Lys550Ile
XM_017025203.1:c.1649A>T XP_016880692.1:p.Lys550Ile
NM_032043.3:c.3503A>T MANE Select NP_114432.2:p.Lys1168Ile