Canonical Allele Identifier: CA400478402

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823885
• ClinVar RCV Id: RCV001020527 ; RCV003106099
• dbSNP Id: rs756313788
• MyVariant Identifiers: chr17:g.59760878T>C (hg19) ; chr17:g.61683517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683517T>C , CM000679.2:g.61683517T>C	GRCh38
NC_000017.10:g.59760878T>C , CM000679.1:g.59760878T>C	GRCh37
NC_000017.9:g.57115660T>C	NCBI36
NG_007409.2:g.185043A>G , LRG_300:g.185043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2269A>G
ENST00000682453.1:c.3529A>G	ENSP00000506943.1:p.Lys1177Glu
ENST00000682477.1:c.*2955A>G	ENSP00000507075.1:n.*2955A>G
ENST00000682589.1:n.9406A>G
ENST00000682755.1:c.3307A>G	ENSP00000507660.1:p.Lys1103Glu
ENST00000682989.1:c.*620A>G	ENSP00000507786.1:n.*620A>G
ENST00000683039.1:c.3529A>G	ENSP00000508303.1:p.Lys1177Glu
ENST00000683235.1:c.*944A>G	ENSP00000507646.1:n.*944A>G
ENST00000683535.1:n.1659A>G
ENST00000684584.1:c.2692A>G	ENSP00000508044.1:p.Lys898Glu
ENST00000684626.1:n.1775A>G
ENST00000684769.1:c.1719A>G	ENSP00000507691.1:n.1719A>G
ENST00000259008.7:c.3529A>G MANE Select	ENSP00000259008.2:p.Lys1177Glu
ENST00000259008.6:c.3529A>G	ENSP00000259008.2:p.Lys1177Glu
NM_032043.2:c.3529A>G , LRG_300t1:c.3529A>G	NP_114432.2:p.Lys1177Glu
XM_011525332.1:c.3589A>G	XP_011523634.1:p.Lys1197Glu
XM_011525333.1:c.3589A>G	XP_011523635.1:p.Lys1197Glu
XM_011525334.1:c.3589A>G	XP_011523636.1:p.Lys1197Glu
XM_011525335.1:c.3529A>G	XP_011523637.1:p.Lys1177Glu
XM_011525336.1:c.3469A>G	XP_011523638.1:p.Lys1157Glu
XM_011525337.1:c.3388A>G	XP_011523639.1:p.Lys1130Glu
XM_011525338.1:c.3106A>G	XP_011523640.1:p.Lys1036Glu
XM_011525332.3:c.3589A>G	XP_011523634.1:p.Lys1197Glu
XM_011525333.3:c.3589A>G	XP_011523635.1:p.Lys1197Glu
XM_011525334.2:c.3589A>G	XP_011523636.1:p.Lys1197Glu
XM_011525335.3:c.3529A>G	XP_011523637.1:p.Lys1177Glu
XM_011525336.2:c.3469A>G	XP_011523638.1:p.Lys1157Glu
XM_011525337.2:c.3388A>G	XP_011523639.1:p.Lys1130Glu
XM_011525338.2:c.3106A>G	XP_011523640.1:p.Lys1036Glu
XM_017025200.1:c.3046A>G	XP_016880689.1:p.Lys1016Glu
XM_017025201.1:c.3046A>G	XP_016880690.1:p.Lys1016Glu
XM_017025202.1:c.1675A>G	XP_016880691.1:p.Lys559Glu
XM_017025203.1:c.1675A>G	XP_016880692.1:p.Lys559Glu
NM_032043.3:c.3529A>G MANE Select	NP_114432.2:p.Lys1177Glu