Canonical Allele Identifier: CA8690521

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 461112
• ClinVar RCV Id: RCV000549959
• dbSNP Id: rs771382903
• ExAC: 17:59793312 C / T
• gnomAD v2: 17-59793312-C-T
• gnomAD v4: 17-61715951-C-T
• MyVariant Identifiers: chr17:g.59793312C>T (hg19) ; chr17:g.61715951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715951C>T , CM000679.2:g.61715951C>T	GRCh38
NC_000017.10:g.59793312C>T , CM000679.1:g.59793312C>T	GRCh37
NC_000017.9:g.57148094C>T	NCBI36
NG_007409.2:g.152609G>A , LRG_300:g.152609G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2622G>A	ENSP00000507191.1:n.2622G>A
ENST00000682073.1:n.1232G>A
ENST00000682433.1:n.1571G>A
ENST00000682453.1:c.2492G>A	ENSP00000506943.1:p.Arg831Lys
ENST00000682477.1:c.*1918G>A	ENSP00000507075.1:n.*1918G>A
ENST00000682589.1:n.8369G>A
ENST00000682755.1:c.2270G>A	ENSP00000507660.1:p.Arg757Lys
ENST00000682989.1:c.2492G>A	ENSP00000507786.1:p.Arg831Lys
ENST00000683039.1:c.2492G>A	ENSP00000508303.1:p.Arg831Lys
ENST00000683235.1:c.2492G>A	ENSP00000507646.1:p.Arg831Lys
ENST00000683535.1:n.622G>A
ENST00000684471.1:n.905G>A
ENST00000684584.1:c.1985G>A	ENSP00000508044.1:p.Arg662Lys
ENST00000684626.1:n.821G>A
ENST00000684769.1:c.557G>A	ENSP00000507691.1:p.Arg186Lys
ENST00000259008.7:c.2492G>A MANE Select	ENSP00000259008.2:p.Arg831Lys
ENST00000259008.6:c.2492G>A	ENSP00000259008.2:p.Arg831Lys
ENST00000577598.5:c.2492G>A	ENSP00000464654.1:p.Arg831Lys
NM_032043.2:c.2492G>A , LRG_300t1:c.2492G>A	NP_114432.2:p.Arg831Lys
XM_011525332.1:c.2552G>A	XP_011523634.1:p.Arg851Lys
XM_011525333.1:c.2552G>A	XP_011523635.1:p.Arg851Lys
XM_011525334.1:c.2552G>A	XP_011523636.1:p.Arg851Lys
XM_011525335.1:c.2492G>A	XP_011523637.1:p.Arg831Lys
XM_011525336.1:c.2432G>A	XP_011523638.1:p.Arg811Lys
XM_011525337.1:c.2351G>A	XP_011523639.1:p.Arg784Lys
XM_011525338.1:c.2069G>A	XP_011523640.1:p.Arg690Lys
XM_011525340.1:c.2552G>A	XP_011523642.1:p.Arg851Lys
XM_011525332.3:c.2552G>A	XP_011523634.1:p.Arg851Lys
XM_011525333.3:c.2552G>A	XP_011523635.1:p.Arg851Lys
XM_011525334.2:c.2552G>A	XP_011523636.1:p.Arg851Lys
XM_011525335.3:c.2492G>A	XP_011523637.1:p.Arg831Lys
XM_011525336.2:c.2432G>A	XP_011523638.1:p.Arg811Lys
XM_011525337.2:c.2351G>A	XP_011523639.1:p.Arg784Lys
XM_011525338.2:c.2069G>A	XP_011523640.1:p.Arg690Lys
XM_011525340.3:c.2552G>A	XP_011523642.1:p.Arg851Lys
XM_017025200.1:c.2009G>A	XP_016880689.1:p.Arg670Lys
XM_017025201.1:c.2009G>A	XP_016880690.1:p.Arg670Lys
XM_017025202.1:c.638G>A	XP_016880691.1:p.Arg213Lys
XM_017025203.1:c.638G>A	XP_016880692.1:p.Arg213Lys
NM_032043.3:c.2492G>A MANE Select	NP_114432.2:p.Arg831Lys