Canonical Allele Identifier: CA501335299

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 764689
• ClinVar RCV Id: RCV000943047 ; RCV003380789
• dbSNP Id: rs1477019492
• MyVariant Identifiers: chr17:g.59761206G>A (hg19) ; chr17:g.61683845G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1941C>T
ENST00000682453.1:c.3201C>T	ENSP00000506943.1:p.Cys1067=
ENST00000682477.1:c.*2627C>T	ENSP00000507075.1:n.*2627C>T
ENST00000682589.1:n.9078C>T
ENST00000682755.1:c.2979C>T	ENSP00000507660.1:p.Cys993=
ENST00000682989.1:c.*292C>T	ENSP00000507786.1:n.*292C>T
ENST00000683039.1:c.3201C>T	ENSP00000508303.1:p.Cys1067=
ENST00000683235.1:c.*616C>T	ENSP00000507646.1:n.*616C>T
ENST00000683535.1:n.1331C>T
ENST00000684584.1:c.2364C>T	ENSP00000508044.1:p.Cys788=
ENST00000684626.1:n.1447C>T
ENST00000684769.1:c.1391C>T	ENSP00000507691.1:n.1391C>T
ENST00000259008.7:c.3201C>T MANE Select	ENSP00000259008.2:p.Cys1067=
ENST00000259008.6:c.3201C>T	ENSP00000259008.2:p.Cys1067=
NM_032043.2:c.3201C>T , LRG_300t1:c.3201C>T	NP_114432.2:p.Cys1067=
XM_011525332.1:c.3261C>T	XP_011523634.1:p.Cys1087=
XM_011525333.1:c.3261C>T	XP_011523635.1:p.Cys1087=
XM_011525334.1:c.3261C>T	XP_011523636.1:p.Cys1087=
XM_011525335.1:c.3201C>T	XP_011523637.1:p.Cys1067=
XM_011525336.1:c.3141C>T	XP_011523638.1:p.Cys1047=
XM_011525337.1:c.3060C>T	XP_011523639.1:p.Cys1020=
XM_011525338.1:c.2778C>T	XP_011523640.1:p.Cys926=
XM_011525332.3:c.3261C>T	XP_011523634.1:p.Cys1087=
XM_011525333.3:c.3261C>T	XP_011523635.1:p.Cys1087=
XM_011525334.2:c.3261C>T	XP_011523636.1:p.Cys1087=
XM_011525335.3:c.3201C>T	XP_011523637.1:p.Cys1067=
XM_011525336.2:c.3141C>T	XP_011523638.1:p.Cys1047=
XM_011525337.2:c.3060C>T	XP_011523639.1:p.Cys1020=
XM_011525338.2:c.2778C>T	XP_011523640.1:p.Cys926=
XM_017025200.1:c.2718C>T	XP_016880689.1:p.Cys906=
XM_017025201.1:c.2718C>T	XP_016880690.1:p.Cys906=
XM_017025202.1:c.1347C>T	XP_016880691.1:p.Cys449=
XM_017025203.1:c.1347C>T	XP_016880692.1:p.Cys449=
NM_032043.3:c.3201C>T MANE Select	NP_114432.2:p.Cys1067=