Canonical Allele Identifier: CA10583616

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241649
• ClinVar RCV Id: RCV001018403
• dbSNP Id: rs587782808
• MyVariant Identifiers: chr17:g.59761343C>G (hg19) ; chr17:g.61683982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683982C>G , CM000679.2:g.61683982C>G	GRCh38
NC_000017.10:g.59761343C>G , CM000679.1:g.59761343C>G	GRCh37
NC_000017.9:g.57116125C>G	NCBI36
NG_007409.2:g.184578G>C , LRG_300:g.184578G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1804G>C
ENST00000682453.1:c.3064G>C	ENSP00000506943.1:p.Glu1022Gln
ENST00000682477.1:c.*2490G>C	ENSP00000507075.1:n.*2490G>C
ENST00000682589.1:n.8941G>C
ENST00000682755.1:c.2842G>C	ENSP00000507660.1:p.Glu948Gln
ENST00000682989.1:c.*155G>C	ENSP00000507786.1:n.*155G>C
ENST00000683039.1:c.3064G>C	ENSP00000508303.1:p.Glu1022Gln
ENST00000683235.1:c.*479G>C	ENSP00000507646.1:n.*479G>C
ENST00000683535.1:n.1194G>C
ENST00000684584.1:c.2227G>C	ENSP00000508044.1:p.Glu743Gln
ENST00000684626.1:n.1310G>C
ENST00000684769.1:c.1254G>C	ENSP00000507691.1:n.1254G>C
ENST00000259008.7:c.3064G>C MANE Select	ENSP00000259008.2:p.Glu1022Gln
ENST00000259008.6:c.3064G>C	ENSP00000259008.2:p.Glu1022Gln
NM_032043.2:c.3064G>C , LRG_300t1:c.3064G>C	NP_114432.2:p.Glu1022Gln
XM_011525332.1:c.3124G>C	XP_011523634.1:p.Glu1042Gln
XM_011525333.1:c.3124G>C	XP_011523635.1:p.Glu1042Gln
XM_011525334.1:c.3124G>C	XP_011523636.1:p.Glu1042Gln
XM_011525335.1:c.3064G>C	XP_011523637.1:p.Glu1022Gln
XM_011525336.1:c.3004G>C	XP_011523638.1:p.Glu1002Gln
XM_011525337.1:c.2923G>C	XP_011523639.1:p.Glu975Gln
XM_011525338.1:c.2641G>C	XP_011523640.1:p.Glu881Gln
XM_011525332.3:c.3124G>C	XP_011523634.1:p.Glu1042Gln
XM_011525333.3:c.3124G>C	XP_011523635.1:p.Glu1042Gln
XM_011525334.2:c.3124G>C	XP_011523636.1:p.Glu1042Gln
XM_011525335.3:c.3064G>C	XP_011523637.1:p.Glu1022Gln
XM_011525336.2:c.3004G>C	XP_011523638.1:p.Glu1002Gln
XM_011525337.2:c.2923G>C	XP_011523639.1:p.Glu975Gln
XM_011525338.2:c.2641G>C	XP_011523640.1:p.Glu881Gln
XM_017025200.1:c.2581G>C	XP_016880689.1:p.Glu861Gln
XM_017025201.1:c.2581G>C	XP_016880690.1:p.Glu861Gln
XM_017025202.1:c.1210G>C	XP_016880691.1:p.Glu404Gln
XM_017025203.1:c.1210G>C	XP_016880692.1:p.Glu404Gln
NM_032043.3:c.3064G>C MANE Select	NP_114432.2:p.Glu1022Gln