Canonical Allele Identifier: CA400479336

Gene: BRIP1

Linked Data

• dbSNP Id: rs1477019492
• MyVariant Identifiers: chr17:g.59761206G>T (hg19) ; chr17:g.61683845G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683845G>T , CM000679.2:g.61683845G>T	GRCh38
NC_000017.10:g.59761206G>T , CM000679.1:g.59761206G>T	GRCh37
NC_000017.9:g.57115988G>T	NCBI36
NG_007409.2:g.184715C>A , LRG_300:g.184715C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1941C>A
ENST00000682453.1:c.3201C>A	ENSP00000506943.1:p.Cys1067Ter
ENST00000682477.1:c.*2627C>A	ENSP00000507075.1:n.*2627C>A
ENST00000682589.1:n.9078C>A
ENST00000682755.1:c.2979C>A	ENSP00000507660.1:p.Cys993Ter
ENST00000682989.1:c.*292C>A	ENSP00000507786.1:n.*292C>A
ENST00000683039.1:c.3201C>A	ENSP00000508303.1:p.Cys1067Ter
ENST00000683235.1:c.*616C>A	ENSP00000507646.1:n.*616C>A
ENST00000683535.1:n.1331C>A
ENST00000684584.1:c.2364C>A	ENSP00000508044.1:p.Cys788Ter
ENST00000684626.1:n.1447C>A
ENST00000684769.1:c.1391C>A	ENSP00000507691.1:n.1391C>A
ENST00000259008.7:c.3201C>A MANE Select	ENSP00000259008.2:p.Cys1067Ter
ENST00000259008.6:c.3201C>A	ENSP00000259008.2:p.Cys1067Ter
NM_032043.2:c.3201C>A , LRG_300t1:c.3201C>A	NP_114432.2:p.Cys1067Ter
XM_011525332.1:c.3261C>A	XP_011523634.1:p.Cys1087Ter
XM_011525333.1:c.3261C>A	XP_011523635.1:p.Cys1087Ter
XM_011525334.1:c.3261C>A	XP_011523636.1:p.Cys1087Ter
XM_011525335.1:c.3201C>A	XP_011523637.1:p.Cys1067Ter
XM_011525336.1:c.3141C>A	XP_011523638.1:p.Cys1047Ter
XM_011525337.1:c.3060C>A	XP_011523639.1:p.Cys1020Ter
XM_011525338.1:c.2778C>A	XP_011523640.1:p.Cys926Ter
XM_011525332.3:c.3261C>A	XP_011523634.1:p.Cys1087Ter
XM_011525333.3:c.3261C>A	XP_011523635.1:p.Cys1087Ter
XM_011525334.2:c.3261C>A	XP_011523636.1:p.Cys1087Ter
XM_011525335.3:c.3201C>A	XP_011523637.1:p.Cys1067Ter
XM_011525336.2:c.3141C>A	XP_011523638.1:p.Cys1047Ter
XM_011525337.2:c.3060C>A	XP_011523639.1:p.Cys1020Ter
XM_011525338.2:c.2778C>A	XP_011523640.1:p.Cys926Ter
XM_017025200.1:c.2718C>A	XP_016880689.1:p.Cys906Ter
XM_017025201.1:c.2718C>A	XP_016880690.1:p.Cys906Ter
XM_017025202.1:c.1347C>A	XP_016880691.1:p.Cys449Ter
XM_017025203.1:c.1347C>A	XP_016880692.1:p.Cys449Ter
NM_032043.3:c.3201C>A MANE Select	NP_114432.2:p.Cys1067Ter