Canonical Allele Identifier: CA400479875

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1450375
• ClinVar RCV Id: RCV002004830 ; RCV002442939
• dbSNP Id: rs147119272
• gnomAD v4: 17-61683976-C-G
• MyVariant Identifiers: chr17:g.59761337C>G (hg19) ; chr17:g.61683976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683976C>G , CM000679.2:g.61683976C>G	GRCh38
NC_000017.10:g.59761337C>G , CM000679.1:g.59761337C>G	GRCh37
NC_000017.9:g.57116119C>G	NCBI36
NG_007409.2:g.184584G>C , LRG_300:g.184584G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1810G>C
ENST00000682453.1:c.3070G>C	ENSP00000506943.1:p.Gly1024Arg
ENST00000682477.1:c.*2496G>C	ENSP00000507075.1:n.*2496G>C
ENST00000682589.1:n.8947G>C
ENST00000682755.1:c.2848G>C	ENSP00000507660.1:p.Gly950Arg
ENST00000682989.1:c.*161G>C	ENSP00000507786.1:n.*161G>C
ENST00000683039.1:c.3070G>C	ENSP00000508303.1:p.Gly1024Arg
ENST00000683235.1:c.*485G>C	ENSP00000507646.1:n.*485G>C
ENST00000683535.1:n.1200G>C
ENST00000684584.1:c.2233G>C	ENSP00000508044.1:p.Gly745Arg
ENST00000684626.1:n.1316G>C
ENST00000684769.1:c.1260G>C	ENSP00000507691.1:n.1260G>C
ENST00000259008.7:c.3070G>C MANE Select	ENSP00000259008.2:p.Gly1024Arg
ENST00000259008.6:c.3070G>C	ENSP00000259008.2:p.Gly1024Arg
NM_032043.2:c.3070G>C , LRG_300t1:c.3070G>C	NP_114432.2:p.Gly1024Arg
XM_011525332.1:c.3130G>C	XP_011523634.1:p.Gly1044Arg
XM_011525333.1:c.3130G>C	XP_011523635.1:p.Gly1044Arg
XM_011525334.1:c.3130G>C	XP_011523636.1:p.Gly1044Arg
XM_011525335.1:c.3070G>C	XP_011523637.1:p.Gly1024Arg
XM_011525336.1:c.3010G>C	XP_011523638.1:p.Gly1004Arg
XM_011525337.1:c.2929G>C	XP_011523639.1:p.Gly977Arg
XM_011525338.1:c.2647G>C	XP_011523640.1:p.Gly883Arg
XM_011525332.3:c.3130G>C	XP_011523634.1:p.Gly1044Arg
XM_011525333.3:c.3130G>C	XP_011523635.1:p.Gly1044Arg
XM_011525334.2:c.3130G>C	XP_011523636.1:p.Gly1044Arg
XM_011525335.3:c.3070G>C	XP_011523637.1:p.Gly1024Arg
XM_011525336.2:c.3010G>C	XP_011523638.1:p.Gly1004Arg
XM_011525337.2:c.2929G>C	XP_011523639.1:p.Gly977Arg
XM_011525338.2:c.2647G>C	XP_011523640.1:p.Gly883Arg
XM_017025200.1:c.2587G>C	XP_016880689.1:p.Gly863Arg
XM_017025201.1:c.2587G>C	XP_016880690.1:p.Gly863Arg
XM_017025202.1:c.1216G>C	XP_016880691.1:p.Gly406Arg
XM_017025203.1:c.1216G>C	XP_016880692.1:p.Gly406Arg
NM_032043.3:c.3070G>C MANE Select	NP_114432.2:p.Gly1024Arg