Canonical Allele Identifier: CA8690447

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 232950
• ClinVar RCV Id: RCV000214349 ; RCV000215700 ; RCV000227974 ; RCV000662447 ; RCV000709536
• dbSNP Id: rs200239986
• ExAC: 17:59763248 T / C
• gnomAD v2: 17-59763248-T-C
• gnomAD v3: 17-61685887-T-C
• gnomAD v4: 17-61685887-T-C
• COSMIC: COSM5021067 ; COSM5021068
• MyVariant Identifiers: chr17:g.59763248T>C (hg19) ; chr17:g.61685887T>C (hg38)
• PubMed: PMID:26709662 ; PMID:26790966

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685887T>C , CM000679.2:g.61685887T>C	GRCh38
NC_000017.10:g.59763248T>C , CM000679.1:g.59763248T>C	GRCh37
NC_000017.9:g.57118030T>C	NCBI36
NG_007409.2:g.182673A>G , LRG_300:g.182673A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2984A>G	ENSP00000507191.1:n.2984A>G
ENST00000682073.1:n.1594A>G
ENST00000682433.1:n.1933A>G
ENST00000682453.1:c.2854A>G	ENSP00000506943.1:p.Ile952Val
ENST00000682477.1:c.*2280A>G	ENSP00000507075.1:n.*2280A>G
ENST00000682589.1:n.8731A>G
ENST00000682755.1:c.2632A>G	ENSP00000507660.1:p.Ile878Val
ENST00000682989.1:c.2610-1747A>G	ENSP00000507786.1:n.2610-1747A>G
ENST00000683039.1:c.2854A>G	ENSP00000508303.1:p.Ile952Val
ENST00000683235.1:c.*269A>G	ENSP00000507646.1:n.*269A>G
ENST00000683535.1:n.984A>G
ENST00000684471.1:n.1267A>G
ENST00000684584.1:c.2069-1747A>G	ENSP00000508044.1:n.2069-1747A>G
ENST00000684626.1:n.1100A>G
ENST00000684769.1:c.1044A>G	ENSP00000507691.1:n.1044A>G
ENST00000259008.7:c.2854A>G MANE Select	ENSP00000259008.2:p.Ile952Val
ENST00000259008.6:c.2854A>G	ENSP00000259008.2:p.Ile952Val
ENST00000577598.5:c.2854A>G	ENSP00000464654.1:p.Ile952Val
NM_032043.2:c.2854A>G , LRG_300t1:c.2854A>G	NP_114432.2:p.Ile952Val
XM_011525332.1:c.2914A>G	XP_011523634.1:p.Ile972Val
XM_011525333.1:c.2914A>G	XP_011523635.1:p.Ile972Val
XM_011525334.1:c.2914A>G	XP_011523636.1:p.Ile972Val
XM_011525335.1:c.2854A>G	XP_011523637.1:p.Ile952Val
XM_011525336.1:c.2794A>G	XP_011523638.1:p.Ile932Val
XM_011525337.1:c.2713A>G	XP_011523639.1:p.Ile905Val
XM_011525338.1:c.2431A>G	XP_011523640.1:p.Ile811Val
XM_011525332.3:c.2914A>G	XP_011523634.1:p.Ile972Val
XM_011525333.3:c.2914A>G	XP_011523635.1:p.Ile972Val
XM_011525334.2:c.2914A>G	XP_011523636.1:p.Ile972Val
XM_011525335.3:c.2854A>G	XP_011523637.1:p.Ile952Val
XM_011525336.2:c.2794A>G	XP_011523638.1:p.Ile932Val
XM_011525337.2:c.2713A>G	XP_011523639.1:p.Ile905Val
XM_011525338.2:c.2431A>G	XP_011523640.1:p.Ile811Val
XM_017025200.1:c.2371A>G	XP_016880689.1:p.Ile791Val
XM_017025201.1:c.2371A>G	XP_016880690.1:p.Ile791Val
XM_017025202.1:c.1000A>G	XP_016880691.1:p.Ile334Val
XM_017025203.1:c.1000A>G	XP_016880692.1:p.Ile334Val
NM_032043.3:c.2854A>G MANE Select	NP_114432.2:p.Ile952Val