Canonical Allele Identifier: CA10650615

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324350
• ClinVar RCV Id: RCV000260325 ; RCV000572116 ; RCV000636193 ; RCV000604455
• dbSNP Id: rs767164240
• MyVariant Identifiers: chr17:g.59763273G>T (hg19) ; chr17:g.61685912G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685912G>T , CM000679.2:g.61685912G>T	GRCh38
NC_000017.10:g.59763273G>T , CM000679.1:g.59763273G>T	GRCh37
NC_000017.9:g.57118055G>T	NCBI36
NG_007409.2:g.182648C>A , LRG_300:g.182648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2959C>A	ENSP00000507191.1:n.2959C>A
ENST00000682073.1:n.1569C>A
ENST00000682433.1:n.1908C>A
ENST00000682453.1:c.2829C>A	ENSP00000506943.1:p.Val943=
ENST00000682477.1:c.*2255C>A	ENSP00000507075.1:n.*2255C>A
ENST00000682589.1:n.8706C>A
ENST00000682755.1:c.2607C>A	ENSP00000507660.1:p.Val869=
ENST00000682989.1:c.2610-1772C>A	ENSP00000507786.1:n.2610-1772C>A
ENST00000683039.1:c.2829C>A	ENSP00000508303.1:p.Val943=
ENST00000683235.1:c.*244C>A	ENSP00000507646.1:n.*244C>A
ENST00000683535.1:n.959C>A
ENST00000684471.1:n.1242C>A
ENST00000684584.1:c.2069-1772C>A	ENSP00000508044.1:n.2069-1772C>A
ENST00000684626.1:n.1075C>A
ENST00000684769.1:c.1019C>A	ENSP00000507691.1:n.1019C>A
ENST00000259008.7:c.2829C>A MANE Select	ENSP00000259008.2:p.Val943=
ENST00000259008.6:c.2829C>A	ENSP00000259008.2:p.Val943=
ENST00000577598.5:c.2829C>A	ENSP00000464654.1:p.Val943=
NM_032043.2:c.2829C>A , LRG_300t1:c.2829C>A	NP_114432.2:p.Val943=
XM_011525332.1:c.2889C>A	XP_011523634.1:p.Val963=
XM_011525333.1:c.2889C>A	XP_011523635.1:p.Val963=
XM_011525334.1:c.2889C>A	XP_011523636.1:p.Val963=
XM_011525335.1:c.2829C>A	XP_011523637.1:p.Val943=
XM_011525336.1:c.2769C>A	XP_011523638.1:p.Val923=
XM_011525337.1:c.2688C>A	XP_011523639.1:p.Val896=
XM_011525338.1:c.2406C>A	XP_011523640.1:p.Val802=
XM_011525332.3:c.2889C>A	XP_011523634.1:p.Val963=
XM_011525333.3:c.2889C>A	XP_011523635.1:p.Val963=
XM_011525334.2:c.2889C>A	XP_011523636.1:p.Val963=
XM_011525335.3:c.2829C>A	XP_011523637.1:p.Val943=
XM_011525336.2:c.2769C>A	XP_011523638.1:p.Val923=
XM_011525337.2:c.2688C>A	XP_011523639.1:p.Val896=
XM_011525338.2:c.2406C>A	XP_011523640.1:p.Val802=
XM_017025200.1:c.2346C>A	XP_016880689.1:p.Val782=
XM_017025201.1:c.2346C>A	XP_016880690.1:p.Val782=
XM_017025202.1:c.975C>A	XP_016880691.1:p.Val325=
XM_017025203.1:c.975C>A	XP_016880692.1:p.Val325=
NM_032043.3:c.2829C>A MANE Select	NP_114432.2:p.Val943=