Canonical Allele Identifier: CA400479930

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1799167
• ClinVar RCV Id: RCV002444014
• dbSNP Id: rs876659757
• MyVariant Identifiers: chr17:g.59761366C>A (hg19) ; chr17:g.61684005C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684005C>A , CM000679.2:g.61684005C>A	GRCh38
NC_000017.10:g.59761366C>A , CM000679.1:g.59761366C>A	GRCh37
NC_000017.9:g.57116148C>A	NCBI36
NG_007409.2:g.184555G>T , LRG_300:g.184555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1781G>T
ENST00000682453.1:c.3041G>T	ENSP00000506943.1:p.Gly1014Val
ENST00000682477.1:c.*2467G>T	ENSP00000507075.1:n.*2467G>T
ENST00000682589.1:n.8918G>T
ENST00000682755.1:c.2819G>T	ENSP00000507660.1:p.Gly940Val
ENST00000682989.1:c.*132G>T	ENSP00000507786.1:n.*132G>T
ENST00000683039.1:c.3041G>T	ENSP00000508303.1:p.Gly1014Val
ENST00000683235.1:c.*456G>T	ENSP00000507646.1:n.*456G>T
ENST00000683535.1:n.1171G>T
ENST00000684584.1:c.2204G>T	ENSP00000508044.1:p.Gly735Val
ENST00000684626.1:n.1287G>T
ENST00000684769.1:c.1231G>T	ENSP00000507691.1:n.1231G>T
ENST00000259008.7:c.3041G>T MANE Select	ENSP00000259008.2:p.Gly1014Val
ENST00000259008.6:c.3041G>T	ENSP00000259008.2:p.Gly1014Val
NM_032043.2:c.3041G>T , LRG_300t1:c.3041G>T	NP_114432.2:p.Gly1014Val
XM_011525332.1:c.3101G>T	XP_011523634.1:p.Gly1034Val
XM_011525333.1:c.3101G>T	XP_011523635.1:p.Gly1034Val
XM_011525334.1:c.3101G>T	XP_011523636.1:p.Gly1034Val
XM_011525335.1:c.3041G>T	XP_011523637.1:p.Gly1014Val
XM_011525336.1:c.2981G>T	XP_011523638.1:p.Gly994Val
XM_011525337.1:c.2900G>T	XP_011523639.1:p.Gly967Val
XM_011525338.1:c.2618G>T	XP_011523640.1:p.Gly873Val
XM_011525332.3:c.3101G>T	XP_011523634.1:p.Gly1034Val
XM_011525333.3:c.3101G>T	XP_011523635.1:p.Gly1034Val
XM_011525334.2:c.3101G>T	XP_011523636.1:p.Gly1034Val
XM_011525335.3:c.3041G>T	XP_011523637.1:p.Gly1014Val
XM_011525336.2:c.2981G>T	XP_011523638.1:p.Gly994Val
XM_011525337.2:c.2900G>T	XP_011523639.1:p.Gly967Val
XM_011525338.2:c.2618G>T	XP_011523640.1:p.Gly873Val
XM_017025200.1:c.2558G>T	XP_016880689.1:p.Gly853Val
XM_017025201.1:c.2558G>T	XP_016880690.1:p.Gly853Val
XM_017025202.1:c.1187G>T	XP_016880691.1:p.Gly396Val
XM_017025203.1:c.1187G>T	XP_016880692.1:p.Gly396Val
NM_032043.3:c.3041G>T MANE Select	NP_114432.2:p.Gly1014Val