Canonical Allele Identifier: CA16615483

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 407813
• ClinVar RCV Id: RCV000469052 ; RCV001181993 ; RCV002466502
• dbSNP Id: rs1060501742
• gnomAD v4: 17-61683717-T-C
• MyVariant Identifiers: chr17:g.59761078T>C (hg19) ; chr17:g.61683717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683717T>C , CM000679.2:g.61683717T>C	GRCh38
NC_000017.10:g.59761078T>C , CM000679.1:g.59761078T>C	GRCh37
NC_000017.9:g.57115860T>C	NCBI36
NG_007409.2:g.184843A>G , LRG_300:g.184843A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2069A>G
ENST00000682453.1:c.3329A>G	ENSP00000506943.1:p.Glu1110Gly
ENST00000682477.1:c.*2755A>G	ENSP00000507075.1:n.*2755A>G
ENST00000682589.1:n.9206A>G
ENST00000682755.1:c.3107A>G	ENSP00000507660.1:p.Glu1036Gly
ENST00000682989.1:c.*420A>G	ENSP00000507786.1:n.*420A>G
ENST00000683039.1:c.3329A>G	ENSP00000508303.1:p.Glu1110Gly
ENST00000683235.1:c.*744A>G	ENSP00000507646.1:n.*744A>G
ENST00000683535.1:n.1459A>G
ENST00000684584.1:c.2492A>G	ENSP00000508044.1:p.Glu831Gly
ENST00000684626.1:n.1575A>G
ENST00000684769.1:c.1519A>G	ENSP00000507691.1:n.1519A>G
ENST00000259008.7:c.3329A>G MANE Select	ENSP00000259008.2:p.Glu1110Gly
ENST00000259008.6:c.3329A>G	ENSP00000259008.2:p.Glu1110Gly
NM_032043.2:c.3329A>G , LRG_300t1:c.3329A>G	NP_114432.2:p.Glu1110Gly
XM_011525332.1:c.3389A>G	XP_011523634.1:p.Glu1130Gly
XM_011525333.1:c.3389A>G	XP_011523635.1:p.Glu1130Gly
XM_011525334.1:c.3389A>G	XP_011523636.1:p.Glu1130Gly
XM_011525335.1:c.3329A>G	XP_011523637.1:p.Glu1110Gly
XM_011525336.1:c.3269A>G	XP_011523638.1:p.Glu1090Gly
XM_011525337.1:c.3188A>G	XP_011523639.1:p.Glu1063Gly
XM_011525338.1:c.2906A>G	XP_011523640.1:p.Glu969Gly
XM_011525332.3:c.3389A>G	XP_011523634.1:p.Glu1130Gly
XM_011525333.3:c.3389A>G	XP_011523635.1:p.Glu1130Gly
XM_011525334.2:c.3389A>G	XP_011523636.1:p.Glu1130Gly
XM_011525335.3:c.3329A>G	XP_011523637.1:p.Glu1110Gly
XM_011525336.2:c.3269A>G	XP_011523638.1:p.Glu1090Gly
XM_011525337.2:c.3188A>G	XP_011523639.1:p.Glu1063Gly
XM_011525338.2:c.2906A>G	XP_011523640.1:p.Glu969Gly
XM_017025200.1:c.2846A>G	XP_016880689.1:p.Glu949Gly
XM_017025201.1:c.2846A>G	XP_016880690.1:p.Glu949Gly
XM_017025202.1:c.1475A>G	XP_016880691.1:p.Glu492Gly
XM_017025203.1:c.1475A>G	XP_016880692.1:p.Glu492Gly
NM_032043.3:c.3329A>G MANE Select	NP_114432.2:p.Glu1110Gly