Canonical Allele Identifier: CA400482660

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1062356
• ClinVar RCV Id: RCV001372059 ; RCV002432048
• dbSNP Id: rs2144677768
• MyVariant Identifiers: chr17:g.59820442A>G (hg19) ; chr17:g.61743081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743081A>G , CM000679.2:g.61743081A>G	GRCh38
NC_000017.10:g.59820442A>G , CM000679.1:g.59820442A>G	GRCh37
NC_000017.9:g.57175224A>G	NCBI36
NG_007409.2:g.125479T>C , LRG_300:g.125479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2311T>C	ENSP00000463272.2:p.Phe771Leu
ENST00000682066.1:c.2441T>C	ENSP00000507191.1:n.2441T>C
ENST00000682073.1:n.1051T>C
ENST00000682433.1:n.1390T>C
ENST00000682453.1:c.2311T>C	ENSP00000506943.1:p.Phe771Leu
ENST00000682477.1:c.*1737T>C	ENSP00000507075.1:n.*1737T>C
ENST00000682589.1:n.8188T>C
ENST00000682755.1:c.2089T>C	ENSP00000507660.1:p.Phe697Leu
ENST00000682989.1:c.2311T>C	ENSP00000507786.1:p.Phe771Leu
ENST00000683039.1:c.2311T>C	ENSP00000508303.1:p.Phe771Leu
ENST00000683235.1:c.2311T>C	ENSP00000507646.1:p.Phe771Leu
ENST00000683381.1:c.2371T>C	ENSP00000508184.1:p.Phe791Leu
ENST00000683535.1:n.441T>C
ENST00000684471.1:n.724T>C
ENST00000684584.1:c.1804T>C	ENSP00000508044.1:p.Phe602Leu
ENST00000684769.1:c.376T>C	ENSP00000507691.1:p.Phe126Leu
ENST00000259008.7:c.2311T>C MANE Select	ENSP00000259008.2:p.Phe771Leu
ENST00000259008.6:c.2311T>C	ENSP00000259008.2:p.Phe771Leu
ENST00000577598.5:c.2311T>C	ENSP00000464654.1:p.Phe771Leu
ENST00000584322.1:c.294T>C
NM_032043.2:c.2311T>C , LRG_300t1:c.2311T>C	NP_114432.2:p.Phe771Leu
XM_011525332.1:c.2371T>C	XP_011523634.1:p.Phe791Leu
XM_011525333.1:c.2371T>C	XP_011523635.1:p.Phe791Leu
XM_011525334.1:c.2371T>C	XP_011523636.1:p.Phe791Leu
XM_011525335.1:c.2311T>C	XP_011523637.1:p.Phe771Leu
XM_011525336.1:c.2251T>C	XP_011523638.1:p.Phe751Leu
XM_011525337.1:c.2170T>C	XP_011523639.1:p.Phe724Leu
XM_011525338.1:c.1888T>C	XP_011523640.1:p.Phe630Leu
XM_011525339.1:c.2371T>C	XP_011523641.1:p.Phe791Leu
XM_011525340.1:c.2371T>C	XP_011523642.1:p.Phe791Leu
XR_934894.1:n.524-1100A>G
XM_011525332.3:c.2371T>C	XP_011523634.1:p.Phe791Leu
XM_011525333.3:c.2371T>C	XP_011523635.1:p.Phe791Leu
XM_011525334.2:c.2371T>C	XP_011523636.1:p.Phe791Leu
XM_011525335.3:c.2311T>C	XP_011523637.1:p.Phe771Leu
XM_011525336.2:c.2251T>C	XP_011523638.1:p.Phe751Leu
XM_011525337.2:c.2170T>C	XP_011523639.1:p.Phe724Leu
XM_011525338.2:c.1888T>C	XP_011523640.1:p.Phe630Leu
XM_011525339.3:c.2371T>C	XP_011523641.1:p.Phe791Leu
XM_011525340.3:c.2371T>C	XP_011523642.1:p.Phe791Leu
XM_017025200.1:c.1828T>C	XP_016880689.1:p.Phe610Leu
XM_017025201.1:c.1828T>C	XP_016880690.1:p.Phe610Leu
XM_017025202.1:c.457T>C	XP_016880691.1:p.Phe153Leu
XM_017025203.1:c.457T>C	XP_016880692.1:p.Phe153Leu
NM_032043.3:c.2311T>C MANE Select	NP_114432.2:p.Phe771Leu