Canonical Allele Identifier: CA10583613

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241654
• ClinVar RCV Id: RCV000228140 ; RCV000564840 ; RCV001284120 ; RCV001354748 ; RCV004532967
• dbSNP Id: rs878855154
• gnomAD v2: 17-59761145-G-A
• gnomAD v3: 17-61683784-G-A
• gnomAD v4: 17-61683784-G-A
• COSMIC: COSM5607991 ; COSM5607992
• MyVariant Identifiers: chr17:g.59761145G>A (hg19) ; chr17:g.61683784G>A (hg38)
• PubMed: PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683784G>A , CM000679.2:g.61683784G>A	GRCh38
NC_000017.10:g.59761145G>A , CM000679.1:g.59761145G>A	GRCh37
NC_000017.9:g.57115927G>A	NCBI36
NG_007409.2:g.184776C>T , LRG_300:g.184776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2002C>T
ENST00000682453.1:c.3262C>T	ENSP00000506943.1:p.His1088Tyr
ENST00000682477.1:c.*2688C>T	ENSP00000507075.1:n.*2688C>T
ENST00000682589.1:n.9139C>T
ENST00000682755.1:c.3040C>T	ENSP00000507660.1:p.His1014Tyr
ENST00000682989.1:c.*353C>T	ENSP00000507786.1:n.*353C>T
ENST00000683039.1:c.3262C>T	ENSP00000508303.1:p.His1088Tyr
ENST00000683235.1:c.*677C>T	ENSP00000507646.1:n.*677C>T
ENST00000683535.1:n.1392C>T
ENST00000684584.1:c.2425C>T	ENSP00000508044.1:p.His809Tyr
ENST00000684626.1:n.1508C>T
ENST00000684769.1:c.1452C>T	ENSP00000507691.1:n.1452C>T
ENST00000259008.7:c.3262C>T MANE Select	ENSP00000259008.2:p.His1088Tyr
ENST00000259008.6:c.3262C>T	ENSP00000259008.2:p.His1088Tyr
NM_032043.2:c.3262C>T , LRG_300t1:c.3262C>T	NP_114432.2:p.His1088Tyr
XM_011525332.1:c.3322C>T	XP_011523634.1:p.His1108Tyr
XM_011525333.1:c.3322C>T	XP_011523635.1:p.His1108Tyr
XM_011525334.1:c.3322C>T	XP_011523636.1:p.His1108Tyr
XM_011525335.1:c.3262C>T	XP_011523637.1:p.His1088Tyr
XM_011525336.1:c.3202C>T	XP_011523638.1:p.His1068Tyr
XM_011525337.1:c.3121C>T	XP_011523639.1:p.His1041Tyr
XM_011525338.1:c.2839C>T	XP_011523640.1:p.His947Tyr
XM_011525332.3:c.3322C>T	XP_011523634.1:p.His1108Tyr
XM_011525333.3:c.3322C>T	XP_011523635.1:p.His1108Tyr
XM_011525334.2:c.3322C>T	XP_011523636.1:p.His1108Tyr
XM_011525335.3:c.3262C>T	XP_011523637.1:p.His1088Tyr
XM_011525336.2:c.3202C>T	XP_011523638.1:p.His1068Tyr
XM_011525337.2:c.3121C>T	XP_011523639.1:p.His1041Tyr
XM_011525338.2:c.2839C>T	XP_011523640.1:p.His947Tyr
XM_017025200.1:c.2779C>T	XP_016880689.1:p.His927Tyr
XM_017025201.1:c.2779C>T	XP_016880690.1:p.His927Tyr
XM_017025202.1:c.1408C>T	XP_016880691.1:p.His470Tyr
XM_017025203.1:c.1408C>T	XP_016880692.1:p.His470Tyr
NM_032043.3:c.3262C>T MANE Select	NP_114432.2:p.His1088Tyr