Canonical Allele Identifier: CA400478372

Gene: BRIP1

Linked Data

• dbSNP Id: rs781289228
• MyVariant Identifiers: chr17:g.59760872C>A (hg19) ; chr17:g.61683511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683511C>A , CM000679.2:g.61683511C>A	GRCh38
NC_000017.10:g.59760872C>A , CM000679.1:g.59760872C>A	GRCh37
NC_000017.9:g.57115654C>A	NCBI36
NG_007409.2:g.185049G>T , LRG_300:g.185049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2275G>T
ENST00000682453.1:c.3535G>T	ENSP00000506943.1:p.Val1179Leu
ENST00000682477.1:c.*2961G>T	ENSP00000507075.1:n.*2961G>T
ENST00000682589.1:n.9412G>T
ENST00000682755.1:c.3313G>T	ENSP00000507660.1:p.Val1105Leu
ENST00000682989.1:c.*626G>T	ENSP00000507786.1:n.*626G>T
ENST00000683039.1:c.3535G>T	ENSP00000508303.1:p.Val1179Leu
ENST00000683235.1:c.*950G>T	ENSP00000507646.1:n.*950G>T
ENST00000683535.1:n.1665G>T
ENST00000684584.1:c.2698G>T	ENSP00000508044.1:p.Val900Leu
ENST00000684626.1:n.1781G>T
ENST00000684769.1:c.1725G>T	ENSP00000507691.1:n.1725G>T
ENST00000259008.7:c.3535G>T MANE Select	ENSP00000259008.2:p.Val1179Leu
ENST00000259008.6:c.3535G>T	ENSP00000259008.2:p.Val1179Leu
NM_032043.2:c.3535G>T , LRG_300t1:c.3535G>T	NP_114432.2:p.Val1179Leu
XM_011525332.1:c.3595G>T	XP_011523634.1:p.Val1199Leu
XM_011525333.1:c.3595G>T	XP_011523635.1:p.Val1199Leu
XM_011525334.1:c.3595G>T	XP_011523636.1:p.Val1199Leu
XM_011525335.1:c.3535G>T	XP_011523637.1:p.Val1179Leu
XM_011525336.1:c.3475G>T	XP_011523638.1:p.Val1159Leu
XM_011525337.1:c.3394G>T	XP_011523639.1:p.Val1132Leu
XM_011525338.1:c.3112G>T	XP_011523640.1:p.Val1038Leu
XM_011525332.3:c.3595G>T	XP_011523634.1:p.Val1199Leu
XM_011525333.3:c.3595G>T	XP_011523635.1:p.Val1199Leu
XM_011525334.2:c.3595G>T	XP_011523636.1:p.Val1199Leu
XM_011525335.3:c.3535G>T	XP_011523637.1:p.Val1179Leu
XM_011525336.2:c.3475G>T	XP_011523638.1:p.Val1159Leu
XM_011525337.2:c.3394G>T	XP_011523639.1:p.Val1132Leu
XM_011525338.2:c.3112G>T	XP_011523640.1:p.Val1038Leu
XM_017025200.1:c.3052G>T	XP_016880689.1:p.Val1018Leu
XM_017025201.1:c.3052G>T	XP_016880690.1:p.Val1018Leu
XM_017025202.1:c.1681G>T	XP_016880691.1:p.Val561Leu
XM_017025203.1:c.1681G>T	XP_016880692.1:p.Val561Leu
NM_032043.3:c.3535G>T MANE Select	NP_114432.2:p.Val1179Leu