Canonical Allele Identifier: CA165398

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 141435
• ClinVar RCV Id: RCV000129948 ; RCV000693512
• dbSNP Id: rs587781744
• gnomAD v2: 17-59761336-C-A
• gnomAD v3: 17-61683975-C-A
• gnomAD v4: 17-61683975-C-A
• MyVariant Identifiers: chr17:g.59761336C>A (hg19) ; chr17:g.61683975C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683975C>A , CM000679.2:g.61683975C>A	GRCh38
NC_000017.10:g.59761336C>A , CM000679.1:g.59761336C>A	GRCh37
NC_000017.9:g.57116118C>A	NCBI36
NG_007409.2:g.184585G>T , LRG_300:g.184585G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1811G>T
ENST00000682453.1:c.3071G>T	ENSP00000506943.1:p.Gly1024Val
ENST00000682477.1:c.*2497G>T	ENSP00000507075.1:n.*2497G>T
ENST00000682589.1:n.8948G>T
ENST00000682755.1:c.2849G>T	ENSP00000507660.1:p.Gly950Val
ENST00000682989.1:c.*162G>T	ENSP00000507786.1:n.*162G>T
ENST00000683039.1:c.3071G>T	ENSP00000508303.1:p.Gly1024Val
ENST00000683235.1:c.*486G>T	ENSP00000507646.1:n.*486G>T
ENST00000683535.1:n.1201G>T
ENST00000684584.1:c.2234G>T	ENSP00000508044.1:p.Gly745Val
ENST00000684626.1:n.1317G>T
ENST00000684769.1:c.1261G>T	ENSP00000507691.1:n.1261G>T
ENST00000259008.7:c.3071G>T MANE Select	ENSP00000259008.2:p.Gly1024Val
ENST00000259008.6:c.3071G>T	ENSP00000259008.2:p.Gly1024Val
NM_032043.2:c.3071G>T , LRG_300t1:c.3071G>T	NP_114432.2:p.Gly1024Val
XM_011525332.1:c.3131G>T	XP_011523634.1:p.Gly1044Val
XM_011525333.1:c.3131G>T	XP_011523635.1:p.Gly1044Val
XM_011525334.1:c.3131G>T	XP_011523636.1:p.Gly1044Val
XM_011525335.1:c.3071G>T	XP_011523637.1:p.Gly1024Val
XM_011525336.1:c.3011G>T	XP_011523638.1:p.Gly1004Val
XM_011525337.1:c.2930G>T	XP_011523639.1:p.Gly977Val
XM_011525338.1:c.2648G>T	XP_011523640.1:p.Gly883Val
XM_011525332.3:c.3131G>T	XP_011523634.1:p.Gly1044Val
XM_011525333.3:c.3131G>T	XP_011523635.1:p.Gly1044Val
XM_011525334.2:c.3131G>T	XP_011523636.1:p.Gly1044Val
XM_011525335.3:c.3071G>T	XP_011523637.1:p.Gly1024Val
XM_011525336.2:c.3011G>T	XP_011523638.1:p.Gly1004Val
XM_011525337.2:c.2930G>T	XP_011523639.1:p.Gly977Val
XM_011525338.2:c.2648G>T	XP_011523640.1:p.Gly883Val
XM_017025200.1:c.2588G>T	XP_016880689.1:p.Gly863Val
XM_017025201.1:c.2588G>T	XP_016880690.1:p.Gly863Val
XM_017025202.1:c.1217G>T	XP_016880691.1:p.Gly406Val
XM_017025203.1:c.1217G>T	XP_016880692.1:p.Gly406Val
NM_032043.3:c.3071G>T MANE Select	NP_114432.2:p.Gly1024Val