Canonical Allele Identifier: CA168131

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 142346
• ClinVar RCV Id: RCV000131421 ; RCV000234751 ; RCV000410875 ; RCV000409672 ; RCV000759709 ; RCV000989996 ; RCV003479018
• dbSNP Id: rs142806416
• ExAC: 17:59820409 T / C
• gnomAD v2: 17-59820409-T-C
• gnomAD v3: 17-61743048-T-C
• gnomAD v4: 17-61743048-T-C
• MyVariant Identifiers: chr17:g.59820409T>C (hg19) ; chr17:g.61743048T>C (hg38)
• PubMed: PMID:24123366 ; PMID:26921362

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743048T>C , CM000679.2:g.61743048T>C	GRCh38
NC_000017.10:g.59820409T>C , CM000679.1:g.59820409T>C	GRCh37
NC_000017.9:g.57175191T>C	NCBI36
NG_007409.2:g.125512A>G , LRG_300:g.125512A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2344A>G	ENSP00000463272.2:p.Ile782Val
ENST00000682066.1:c.2474A>G	ENSP00000507191.1:n.2474A>G
ENST00000682073.1:n.1084A>G
ENST00000682433.1:n.1423A>G
ENST00000682453.1:c.2344A>G	ENSP00000506943.1:p.Ile782Val
ENST00000682477.1:c.*1770A>G	ENSP00000507075.1:n.*1770A>G
ENST00000682589.1:n.8221A>G
ENST00000682755.1:c.2122A>G	ENSP00000507660.1:p.Ile708Val
ENST00000682989.1:c.2344A>G	ENSP00000507786.1:p.Ile782Val
ENST00000683039.1:c.2344A>G	ENSP00000508303.1:p.Ile782Val
ENST00000683235.1:c.2344A>G	ENSP00000507646.1:p.Ile782Val
ENST00000683381.1:c.2404A>G	ENSP00000508184.1:p.Ile802Val
ENST00000683535.1:n.474A>G
ENST00000684471.1:n.757A>G
ENST00000684584.1:c.1837A>G	ENSP00000508044.1:p.Ile613Val
ENST00000684769.1:c.409A>G	ENSP00000507691.1:p.Ile137Val
ENST00000259008.7:c.2344A>G MANE Select	ENSP00000259008.2:p.Ile782Val
ENST00000259008.6:c.2344A>G	ENSP00000259008.2:p.Ile782Val
ENST00000577598.5:c.2344A>G	ENSP00000464654.1:p.Ile782Val
ENST00000584322.1:c.327A>G
NM_032043.2:c.2344A>G , LRG_300t1:c.2344A>G	NP_114432.2:p.Ile782Val
XM_011525332.1:c.2404A>G	XP_011523634.1:p.Ile802Val
XM_011525333.1:c.2404A>G	XP_011523635.1:p.Ile802Val
XM_011525334.1:c.2404A>G	XP_011523636.1:p.Ile802Val
XM_011525335.1:c.2344A>G	XP_011523637.1:p.Ile782Val
XM_011525336.1:c.2284A>G	XP_011523638.1:p.Ile762Val
XM_011525337.1:c.2203A>G	XP_011523639.1:p.Ile735Val
XM_011525338.1:c.1921A>G	XP_011523640.1:p.Ile641Val
XM_011525339.1:c.2404A>G	XP_011523641.1:p.Ile802Val
XM_011525340.1:c.2404A>G	XP_011523642.1:p.Ile802Val
XR_934894.1:n.524-1133T>C
XM_011525332.3:c.2404A>G	XP_011523634.1:p.Ile802Val
XM_011525333.3:c.2404A>G	XP_011523635.1:p.Ile802Val
XM_011525334.2:c.2404A>G	XP_011523636.1:p.Ile802Val
XM_011525335.3:c.2344A>G	XP_011523637.1:p.Ile782Val
XM_011525336.2:c.2284A>G	XP_011523638.1:p.Ile762Val
XM_011525337.2:c.2203A>G	XP_011523639.1:p.Ile735Val
XM_011525338.2:c.1921A>G	XP_011523640.1:p.Ile641Val
XM_011525339.3:c.2404A>G	XP_011523641.1:p.Ile802Val
XM_011525340.3:c.2404A>G	XP_011523642.1:p.Ile802Val
XM_017025200.1:c.1861A>G	XP_016880689.1:p.Ile621Val
XM_017025201.1:c.1861A>G	XP_016880690.1:p.Ile621Val
XM_017025202.1:c.490A>G	XP_016880691.1:p.Ile164Val
XM_017025203.1:c.490A>G	XP_016880692.1:p.Ile164Val
NM_032043.3:c.2344A>G MANE Select	NP_114432.2:p.Ile782Val