Canonical Allele Identifier: CA400479384

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1389410
• ClinVar RCV Id: RCV001889236
• dbSNP Id: rs2144378901
• gnomAD v4: 17-61715952-T-C
• MyVariant Identifiers: chr17:g.59793313T>C (hg19) ; chr17:g.61715952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715952T>C , CM000679.2:g.61715952T>C	GRCh38
NC_000017.10:g.59793313T>C , CM000679.1:g.59793313T>C	GRCh37
NC_000017.9:g.57148095T>C	NCBI36
NG_007409.2:g.152608A>G , LRG_300:g.152608A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2621A>G	ENSP00000507191.1:n.2621A>G
ENST00000682073.1:n.1231A>G
ENST00000682433.1:n.1570A>G
ENST00000682453.1:c.2491A>G	ENSP00000506943.1:p.Arg831Gly
ENST00000682477.1:c.*1917A>G	ENSP00000507075.1:n.*1917A>G
ENST00000682589.1:n.8368A>G
ENST00000682755.1:c.2269A>G	ENSP00000507660.1:p.Arg757Gly
ENST00000682989.1:c.2491A>G	ENSP00000507786.1:p.Arg831Gly
ENST00000683039.1:c.2491A>G	ENSP00000508303.1:p.Arg831Gly
ENST00000683235.1:c.2491A>G	ENSP00000507646.1:p.Arg831Gly
ENST00000683535.1:n.621A>G
ENST00000684471.1:n.904A>G
ENST00000684584.1:c.1984A>G	ENSP00000508044.1:p.Arg662Gly
ENST00000684626.1:n.820A>G
ENST00000684769.1:c.556A>G	ENSP00000507691.1:p.Arg186Gly
ENST00000259008.7:c.2491A>G MANE Select	ENSP00000259008.2:p.Arg831Gly
ENST00000259008.6:c.2491A>G	ENSP00000259008.2:p.Arg831Gly
ENST00000577598.5:c.2491A>G	ENSP00000464654.1:p.Arg831Gly
NM_032043.2:c.2491A>G , LRG_300t1:c.2491A>G	NP_114432.2:p.Arg831Gly
XM_011525332.1:c.2551A>G	XP_011523634.1:p.Arg851Gly
XM_011525333.1:c.2551A>G	XP_011523635.1:p.Arg851Gly
XM_011525334.1:c.2551A>G	XP_011523636.1:p.Arg851Gly
XM_011525335.1:c.2491A>G	XP_011523637.1:p.Arg831Gly
XM_011525336.1:c.2431A>G	XP_011523638.1:p.Arg811Gly
XM_011525337.1:c.2350A>G	XP_011523639.1:p.Arg784Gly
XM_011525338.1:c.2068A>G	XP_011523640.1:p.Arg690Gly
XM_011525340.1:c.2551A>G	XP_011523642.1:p.Arg851Gly
XM_011525332.3:c.2551A>G	XP_011523634.1:p.Arg851Gly
XM_011525333.3:c.2551A>G	XP_011523635.1:p.Arg851Gly
XM_011525334.2:c.2551A>G	XP_011523636.1:p.Arg851Gly
XM_011525335.3:c.2491A>G	XP_011523637.1:p.Arg831Gly
XM_011525336.2:c.2431A>G	XP_011523638.1:p.Arg811Gly
XM_011525337.2:c.2350A>G	XP_011523639.1:p.Arg784Gly
XM_011525338.2:c.2068A>G	XP_011523640.1:p.Arg690Gly
XM_011525340.3:c.2551A>G	XP_011523642.1:p.Arg851Gly
XM_017025200.1:c.2008A>G	XP_016880689.1:p.Arg670Gly
XM_017025201.1:c.2008A>G	XP_016880690.1:p.Arg670Gly
XM_017025202.1:c.637A>G	XP_016880691.1:p.Arg213Gly
XM_017025203.1:c.637A>G	XP_016880692.1:p.Arg213Gly
NM_032043.3:c.2491A>G MANE Select	NP_114432.2:p.Arg831Gly