Canonical Allele Identifier: CA400478645

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760937C>T (hg19) ; chr17:g.61683576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683576C>T , CM000679.2:g.61683576C>T	GRCh38
NC_000017.10:g.59760937C>T , CM000679.1:g.59760937C>T	GRCh37
NC_000017.9:g.57115719C>T	NCBI36
NG_007409.2:g.184984G>A , LRG_300:g.184984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2210G>A
ENST00000682453.1:c.3470G>A	ENSP00000506943.1:p.Arg1157Lys
ENST00000682477.1:c.*2896G>A	ENSP00000507075.1:n.*2896G>A
ENST00000682589.1:n.9347G>A
ENST00000682755.1:c.3248G>A	ENSP00000507660.1:p.Arg1083Lys
ENST00000682989.1:c.*561G>A	ENSP00000507786.1:n.*561G>A
ENST00000683039.1:c.3470G>A	ENSP00000508303.1:p.Arg1157Lys
ENST00000683235.1:c.*885G>A	ENSP00000507646.1:n.*885G>A
ENST00000683535.1:n.1600G>A
ENST00000684584.1:c.2633G>A	ENSP00000508044.1:p.Arg878Lys
ENST00000684626.1:n.1716G>A
ENST00000684769.1:c.1660G>A	ENSP00000507691.1:n.1660G>A
ENST00000259008.7:c.3470G>A MANE Select	ENSP00000259008.2:p.Arg1157Lys
ENST00000259008.6:c.3470G>A	ENSP00000259008.2:p.Arg1157Lys
NM_032043.2:c.3470G>A , LRG_300t1:c.3470G>A	NP_114432.2:p.Arg1157Lys
XM_011525332.1:c.3530G>A	XP_011523634.1:p.Arg1177Lys
XM_011525333.1:c.3530G>A	XP_011523635.1:p.Arg1177Lys
XM_011525334.1:c.3530G>A	XP_011523636.1:p.Arg1177Lys
XM_011525335.1:c.3470G>A	XP_011523637.1:p.Arg1157Lys
XM_011525336.1:c.3410G>A	XP_011523638.1:p.Arg1137Lys
XM_011525337.1:c.3329G>A	XP_011523639.1:p.Arg1110Lys
XM_011525338.1:c.3047G>A	XP_011523640.1:p.Arg1016Lys
XM_011525332.3:c.3530G>A	XP_011523634.1:p.Arg1177Lys
XM_011525333.3:c.3530G>A	XP_011523635.1:p.Arg1177Lys
XM_011525334.2:c.3530G>A	XP_011523636.1:p.Arg1177Lys
XM_011525335.3:c.3470G>A	XP_011523637.1:p.Arg1157Lys
XM_011525336.2:c.3410G>A	XP_011523638.1:p.Arg1137Lys
XM_011525337.2:c.3329G>A	XP_011523639.1:p.Arg1110Lys
XM_011525338.2:c.3047G>A	XP_011523640.1:p.Arg1016Lys
XM_017025200.1:c.2987G>A	XP_016880689.1:p.Arg996Lys
XM_017025201.1:c.2987G>A	XP_016880690.1:p.Arg996Lys
XM_017025202.1:c.1616G>A	XP_016880691.1:p.Arg539Lys
XM_017025203.1:c.1616G>A	XP_016880692.1:p.Arg539Lys
NM_032043.3:c.3470G>A MANE Select	NP_114432.2:p.Arg1157Lys