Canonical Allele Identifier: CA400478649

Gene: BRIP1

Linked Data

• MyVariant Identifiers: chr17:g.59760938T>C (hg19) ; chr17:g.61683577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683577T>C , CM000679.2:g.61683577T>C	GRCh38
NC_000017.10:g.59760938T>C , CM000679.1:g.59760938T>C	GRCh37
NC_000017.9:g.57115720T>C	NCBI36
NG_007409.2:g.184983A>G , LRG_300:g.184983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2209A>G
ENST00000682453.1:c.3469A>G	ENSP00000506943.1:p.Arg1157Gly
ENST00000682477.1:c.*2895A>G	ENSP00000507075.1:n.*2895A>G
ENST00000682589.1:n.9346A>G
ENST00000682755.1:c.3247A>G	ENSP00000507660.1:p.Arg1083Gly
ENST00000682989.1:c.*560A>G	ENSP00000507786.1:n.*560A>G
ENST00000683039.1:c.3469A>G	ENSP00000508303.1:p.Arg1157Gly
ENST00000683235.1:c.*884A>G	ENSP00000507646.1:n.*884A>G
ENST00000683535.1:n.1599A>G
ENST00000684584.1:c.2632A>G	ENSP00000508044.1:p.Arg878Gly
ENST00000684626.1:n.1715A>G
ENST00000684769.1:c.1659A>G	ENSP00000507691.1:n.1659A>G
ENST00000259008.7:c.3469A>G MANE Select	ENSP00000259008.2:p.Arg1157Gly
ENST00000259008.6:c.3469A>G	ENSP00000259008.2:p.Arg1157Gly
NM_032043.2:c.3469A>G , LRG_300t1:c.3469A>G	NP_114432.2:p.Arg1157Gly
XM_011525332.1:c.3529A>G	XP_011523634.1:p.Arg1177Gly
XM_011525333.1:c.3529A>G	XP_011523635.1:p.Arg1177Gly
XM_011525334.1:c.3529A>G	XP_011523636.1:p.Arg1177Gly
XM_011525335.1:c.3469A>G	XP_011523637.1:p.Arg1157Gly
XM_011525336.1:c.3409A>G	XP_011523638.1:p.Arg1137Gly
XM_011525337.1:c.3328A>G	XP_011523639.1:p.Arg1110Gly
XM_011525338.1:c.3046A>G	XP_011523640.1:p.Arg1016Gly
XM_011525332.3:c.3529A>G	XP_011523634.1:p.Arg1177Gly
XM_011525333.3:c.3529A>G	XP_011523635.1:p.Arg1177Gly
XM_011525334.2:c.3529A>G	XP_011523636.1:p.Arg1177Gly
XM_011525335.3:c.3469A>G	XP_011523637.1:p.Arg1157Gly
XM_011525336.2:c.3409A>G	XP_011523638.1:p.Arg1137Gly
XM_011525337.2:c.3328A>G	XP_011523639.1:p.Arg1110Gly
XM_011525338.2:c.3046A>G	XP_011523640.1:p.Arg1016Gly
XM_017025200.1:c.2986A>G	XP_016880689.1:p.Arg996Gly
XM_017025201.1:c.2986A>G	XP_016880690.1:p.Arg996Gly
XM_017025202.1:c.1615A>G	XP_016880691.1:p.Arg539Gly
XM_017025203.1:c.1615A>G	XP_016880692.1:p.Arg539Gly
NM_032043.3:c.3469A>G MANE Select	NP_114432.2:p.Arg1157Gly