Canonical Allele Identifier: CA626797004

Gene: BRIP1

Linked Data

• dbSNP Id: rs1339235015
• gnomAD v2: 17-59793213-A-C
• gnomAD v3: 17-61715852-A-C
• gnomAD v4: 17-61715852-A-C
• MyVariant Identifiers: chr17:g.59793213A>C (hg19) ; chr17:g.61715852A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715852A>C , CM000679.2:g.61715852A>C	GRCh38
NC_000017.10:g.59793213A>C , CM000679.1:g.59793213A>C	GRCh37
NC_000017.9:g.57147995A>C	NCBI36
NG_007409.2:g.152708T>G , LRG_300:g.152708T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2622+99T>G	ENSP00000507191.1:n.2622+99T>G
ENST00000682073.1:n.1232+99T>G
ENST00000682433.1:n.1571+99T>G
ENST00000682453.1:c.2492+99T>G	ENSP00000506943.1:n.2492+99T>G
ENST00000682477.1:c.*1918+99T>G	ENSP00000507075.1:n.*1918+99T>G
ENST00000682589.1:n.8369+99T>G
ENST00000682755.1:c.2270+99T>G	ENSP00000507660.1:n.2270+99T>G
ENST00000682989.1:c.2492+99T>G	ENSP00000507786.1:n.2492+99T>G
ENST00000683039.1:c.2492+99T>G	ENSP00000508303.1:n.2492+99T>G
ENST00000683235.1:c.2492+99T>G	ENSP00000507646.1:n.2492+99T>G
ENST00000683535.1:n.622+99T>G
ENST00000684471.1:n.905+99T>G
ENST00000684584.1:c.1985+99T>G	ENSP00000508044.1:n.1985+99T>G
ENST00000684626.1:n.821+99T>G
ENST00000684769.1:c.557+99T>G	ENSP00000507691.1:n.557+99T>G
ENST00000259008.7:c.2492+99T>G MANE Select	ENSP00000259008.2:n.2492+99T>G
ENST00000259008.6:c.2492+99T>G	ENSP00000259008.2:n.2492+99T>G
ENST00000577598.5:c.2492+99T>G	ENSP00000464654.1:n.2492+99T>G
NM_032043.2:c.2492+99T>G , LRG_300t1:c.2492+99T>G	NP_114432.2:n.2492+99T>G
XM_011525332.1:c.2552+99T>G	XP_011523634.1:n.2552+99T>G
XM_011525333.1:c.2552+99T>G	XP_011523635.1:n.2552+99T>G
XM_011525334.1:c.2552+99T>G	XP_011523636.1:n.2552+99T>G
XM_011525335.1:c.2492+99T>G	XP_011523637.1:n.2492+99T>G
XM_011525336.1:c.2432+99T>G	XP_011523638.1:n.2432+99T>G
XM_011525337.1:c.2351+99T>G	XP_011523639.1:n.2351+99T>G
XM_011525338.1:c.2069+99T>G	XP_011523640.1:n.2069+99T>G
XM_011525340.1:c.2552+99T>G	XP_011523642.1:n.2552+99T>G
XM_011525332.3:c.2552+99T>G	XP_011523634.1:n.2552+99T>G
XM_011525333.3:c.2552+99T>G	XP_011523635.1:n.2552+99T>G
XM_011525334.2:c.2552+99T>G	XP_011523636.1:n.2552+99T>G
XM_011525335.3:c.2492+99T>G	XP_011523637.1:n.2492+99T>G
XM_011525336.2:c.2432+99T>G	XP_011523638.1:n.2432+99T>G
XM_011525337.2:c.2351+99T>G	XP_011523639.1:n.2351+99T>G
XM_011525338.2:c.2069+99T>G	XP_011523640.1:n.2069+99T>G
XM_011525340.3:c.2552+99T>G	XP_011523642.1:n.2552+99T>G
XM_017025200.1:c.2009+99T>G	XP_016880689.1:n.2009+99T>G
XM_017025201.1:c.2009+99T>G	XP_016880690.1:n.2009+99T>G
XM_017025202.1:c.638+99T>G	XP_016880691.1:n.638+99T>G
XM_017025203.1:c.638+99T>G	XP_016880692.1:n.638+99T>G
NM_032043.3:c.2492+99T>G MANE Select	NP_114432.2:n.2492+99T>G