Canonical Allele Identifier: CA400482606

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 848871
• ClinVar RCV Id: RCV001052718 ; RCV002451216
• dbSNP Id: rs776131401
• gnomAD v4: 17-61743054-T-C
• MyVariant Identifiers: chr17:g.59820415T>C (hg19) ; chr17:g.61743054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743054T>C , CM000679.2:g.61743054T>C	GRCh38
NC_000017.10:g.59820415T>C , CM000679.1:g.59820415T>C	GRCh37
NC_000017.9:g.57175197T>C	NCBI36
NG_007409.2:g.125506A>G , LRG_300:g.125506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2338A>G	ENSP00000463272.2:p.Ile780Val
ENST00000682066.1:c.2468A>G	ENSP00000507191.1:n.2468A>G
ENST00000682073.1:n.1078A>G
ENST00000682433.1:n.1417A>G
ENST00000682453.1:c.2338A>G	ENSP00000506943.1:p.Ile780Val
ENST00000682477.1:c.*1764A>G	ENSP00000507075.1:n.*1764A>G
ENST00000682589.1:n.8215A>G
ENST00000682755.1:c.2116A>G	ENSP00000507660.1:p.Ile706Val
ENST00000682989.1:c.2338A>G	ENSP00000507786.1:p.Ile780Val
ENST00000683039.1:c.2338A>G	ENSP00000508303.1:p.Ile780Val
ENST00000683235.1:c.2338A>G	ENSP00000507646.1:p.Ile780Val
ENST00000683381.1:c.2398A>G	ENSP00000508184.1:p.Ile800Val
ENST00000683535.1:n.468A>G
ENST00000684471.1:n.751A>G
ENST00000684584.1:c.1831A>G	ENSP00000508044.1:p.Ile611Val
ENST00000684769.1:c.403A>G	ENSP00000507691.1:p.Ile135Val
ENST00000259008.7:c.2338A>G MANE Select	ENSP00000259008.2:p.Ile780Val
ENST00000259008.6:c.2338A>G	ENSP00000259008.2:p.Ile780Val
ENST00000577598.5:c.2338A>G	ENSP00000464654.1:p.Ile780Val
ENST00000584322.1:c.321A>G
NM_032043.2:c.2338A>G , LRG_300t1:c.2338A>G	NP_114432.2:p.Ile780Val
XM_011525332.1:c.2398A>G	XP_011523634.1:p.Ile800Val
XM_011525333.1:c.2398A>G	XP_011523635.1:p.Ile800Val
XM_011525334.1:c.2398A>G	XP_011523636.1:p.Ile800Val
XM_011525335.1:c.2338A>G	XP_011523637.1:p.Ile780Val
XM_011525336.1:c.2278A>G	XP_011523638.1:p.Ile760Val
XM_011525337.1:c.2197A>G	XP_011523639.1:p.Ile733Val
XM_011525338.1:c.1915A>G	XP_011523640.1:p.Ile639Val
XM_011525339.1:c.2398A>G	XP_011523641.1:p.Ile800Val
XM_011525340.1:c.2398A>G	XP_011523642.1:p.Ile800Val
XR_934894.1:n.524-1127T>C
XM_011525332.3:c.2398A>G	XP_011523634.1:p.Ile800Val
XM_011525333.3:c.2398A>G	XP_011523635.1:p.Ile800Val
XM_011525334.2:c.2398A>G	XP_011523636.1:p.Ile800Val
XM_011525335.3:c.2338A>G	XP_011523637.1:p.Ile780Val
XM_011525336.2:c.2278A>G	XP_011523638.1:p.Ile760Val
XM_011525337.2:c.2197A>G	XP_011523639.1:p.Ile733Val
XM_011525338.2:c.1915A>G	XP_011523640.1:p.Ile639Val
XM_011525339.3:c.2398A>G	XP_011523641.1:p.Ile800Val
XM_011525340.3:c.2398A>G	XP_011523642.1:p.Ile800Val
XM_017025200.1:c.1855A>G	XP_016880689.1:p.Ile619Val
XM_017025201.1:c.1855A>G	XP_016880690.1:p.Ile619Val
XM_017025202.1:c.484A>G	XP_016880691.1:p.Ile162Val
XM_017025203.1:c.484A>G	XP_016880692.1:p.Ile162Val
NM_032043.3:c.2338A>G MANE Select	NP_114432.2:p.Ile780Val