Canonical Allele Identifier: CA190066

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 184796
• ClinVar RCV Id: RCV000164112 ; RCV000475560 ; RCV001356649 ; RCV000439785
• dbSNP Id: rs786201701
• gnomAD v4: 17-61784346-C-T
• MyVariant Identifiers: chr17:g.59861707C>T (hg19) ; chr17:g.61784346C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61784346C>T , CM000679.2:g.61784346C>T	GRCh38
NC_000017.10:g.59861707C>T , CM000679.1:g.59861707C>T	GRCh37
NC_000017.9:g.57216489C>T	NCBI36
NG_007409.2:g.84214G>A , LRG_300:g.84214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1045G>A	ENSP00000463827.2:p.Val349Ile
ENST00000584322.2:c.1552G>A	ENSP00000463272.2:p.Val518Ile
ENST00000682066.1:c.1045G>A	ENSP00000507191.1:p.Val349Ile
ENST00000682073.1:n.292G>A
ENST00000682453.1:c.1552G>A	ENSP00000506943.1:p.Val518Ile
ENST00000682477.1:c.*978G>A	ENSP00000507075.1:n.*978G>A
ENST00000682589.1:n.3293G>A
ENST00000682611.1:c.1045G>A	ENSP00000508326.1:p.Val349Ile
ENST00000682755.1:c.1330G>A	ENSP00000507660.1:p.Val444Ile
ENST00000682989.1:c.1552G>A	ENSP00000507786.1:p.Val518Ile
ENST00000683039.1:c.1552G>A	ENSP00000508303.1:p.Val518Ile
ENST00000683235.1:c.1552G>A	ENSP00000507646.1:p.Val518Ile
ENST00000683381.1:c.1552G>A	ENSP00000508184.1:p.Val518Ile
ENST00000684584.1:c.1045G>A	ENSP00000508044.1:p.Val349Ile
ENST00000259008.7:c.1552G>A MANE Select	ENSP00000259008.2:p.Val518Ile
ENST00000259008.6:c.1552G>A	ENSP00000259008.2:p.Val518Ile
ENST00000577598.5:c.1552G>A	ENSP00000464654.1:p.Val518Ile
ENST00000579028.1:c.156G>A
NM_032043.2:c.1552G>A , LRG_300t1:c.1552G>A	NP_114432.2:p.Val518Ile
XM_011525332.1:c.1552G>A	XP_011523634.1:p.Val518Ile
XM_011525333.1:c.1552G>A	XP_011523635.1:p.Val518Ile
XM_011525334.1:c.1552G>A	XP_011523636.1:p.Val518Ile
XM_011525335.1:c.1552G>A	XP_011523637.1:p.Val518Ile
XM_011525336.1:c.1552G>A	XP_011523638.1:p.Val518Ile
XM_011525337.1:c.1552G>A	XP_011523639.1:p.Val518Ile
XM_011525338.1:c.1069G>A	XP_011523640.1:p.Val357Ile
XM_011525339.1:c.1552G>A	XP_011523641.1:p.Val518Ile
XM_011525340.1:c.1552G>A	XP_011523642.1:p.Val518Ile
XM_011525341.1:c.1552G>A	XP_011523643.1:p.Val518Ile
XM_011525332.3:c.1552G>A	XP_011523634.1:p.Val518Ile
XM_011525333.3:c.1552G>A	XP_011523635.1:p.Val518Ile
XM_011525334.2:c.1552G>A	XP_011523636.1:p.Val518Ile
XM_011525335.3:c.1552G>A	XP_011523637.1:p.Val518Ile
XM_011525336.2:c.1552G>A	XP_011523638.1:p.Val518Ile
XM_011525337.2:c.1552G>A	XP_011523639.1:p.Val518Ile
XM_011525338.2:c.1069G>A	XP_011523640.1:p.Val357Ile
XM_011525339.3:c.1552G>A	XP_011523641.1:p.Val518Ile
XM_011525340.3:c.1552G>A	XP_011523642.1:p.Val518Ile
XM_011525341.3:c.1552G>A	XP_011523643.1:p.Val518Ile
XM_017025200.1:c.1069G>A	XP_016880689.1:p.Val357Ile
XM_017025201.1:c.1009G>A	XP_016880690.1:p.Val337Ile
NM_032043.3:c.1552G>A MANE Select	NP_114432.2:p.Val518Ile