Canonical Allele Identifier: CA400481395

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144109588
• MyVariant Identifiers: chr17:g.59763268T>G (hg19) ; chr17:g.61685907T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685907T>G , CM000679.2:g.61685907T>G	GRCh38
NC_000017.10:g.59763268T>G , CM000679.1:g.59763268T>G	GRCh37
NC_000017.9:g.57118050T>G	NCBI36
NG_007409.2:g.182653A>C , LRG_300:g.182653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2964A>C	ENSP00000507191.1:n.2964A>C
ENST00000682073.1:n.1574A>C
ENST00000682433.1:n.1913A>C
ENST00000682453.1:c.2834A>C	ENSP00000506943.1:p.Glu945Ala
ENST00000682477.1:c.*2260A>C	ENSP00000507075.1:n.*2260A>C
ENST00000682589.1:n.8711A>C
ENST00000682755.1:c.2612A>C	ENSP00000507660.1:p.Glu871Ala
ENST00000682989.1:c.2610-1767A>C	ENSP00000507786.1:n.2610-1767A>C
ENST00000683039.1:c.2834A>C	ENSP00000508303.1:p.Glu945Ala
ENST00000683235.1:c.*249A>C	ENSP00000507646.1:n.*249A>C
ENST00000683535.1:n.964A>C
ENST00000684471.1:n.1247A>C
ENST00000684584.1:c.2069-1767A>C	ENSP00000508044.1:n.2069-1767A>C
ENST00000684626.1:n.1080A>C
ENST00000684769.1:c.1024A>C	ENSP00000507691.1:n.1024A>C
ENST00000259008.7:c.2834A>C MANE Select	ENSP00000259008.2:p.Glu945Ala
ENST00000259008.6:c.2834A>C	ENSP00000259008.2:p.Glu945Ala
ENST00000577598.5:c.2834A>C	ENSP00000464654.1:p.Glu945Ala
NM_032043.2:c.2834A>C , LRG_300t1:c.2834A>C	NP_114432.2:p.Glu945Ala
XM_011525332.1:c.2894A>C	XP_011523634.1:p.Glu965Ala
XM_011525333.1:c.2894A>C	XP_011523635.1:p.Glu965Ala
XM_011525334.1:c.2894A>C	XP_011523636.1:p.Glu965Ala
XM_011525335.1:c.2834A>C	XP_011523637.1:p.Glu945Ala
XM_011525336.1:c.2774A>C	XP_011523638.1:p.Glu925Ala
XM_011525337.1:c.2693A>C	XP_011523639.1:p.Glu898Ala
XM_011525338.1:c.2411A>C	XP_011523640.1:p.Glu804Ala
XM_011525332.3:c.2894A>C	XP_011523634.1:p.Glu965Ala
XM_011525333.3:c.2894A>C	XP_011523635.1:p.Glu965Ala
XM_011525334.2:c.2894A>C	XP_011523636.1:p.Glu965Ala
XM_011525335.3:c.2834A>C	XP_011523637.1:p.Glu945Ala
XM_011525336.2:c.2774A>C	XP_011523638.1:p.Glu925Ala
XM_011525337.2:c.2693A>C	XP_011523639.1:p.Glu898Ala
XM_011525338.2:c.2411A>C	XP_011523640.1:p.Glu804Ala
XM_017025200.1:c.2351A>C	XP_016880689.1:p.Glu784Ala
XM_017025201.1:c.2351A>C	XP_016880690.1:p.Glu784Ala
XM_017025202.1:c.980A>C	XP_016880691.1:p.Glu327Ala
XM_017025203.1:c.980A>C	XP_016880692.1:p.Glu327Ala
NM_032043.3:c.2834A>C MANE Select	NP_114432.2:p.Glu945Ala