Canonical Allele Identifier: CA189699

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 184686
• ClinVar RCV Id: RCV000419264 ; RCV000163981 ; RCV003316013 ; RCV000636225
• dbSNP Id: rs375911315
• ExAC: 17:59761131 C / T
• gnomAD v2: 17-59761131-C-T
• gnomAD v3: 17-61683770-C-T
• gnomAD v4: 17-61683770-C-T
• MyVariant Identifiers: chr17:g.59761131C>T (hg19) ; chr17:g.61683770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683770C>T , CM000679.2:g.61683770C>T	GRCh38
NC_000017.10:g.59761131C>T , CM000679.1:g.59761131C>T	GRCh37
NC_000017.9:g.57115913C>T	NCBI36
NG_007409.2:g.184790G>A , LRG_300:g.184790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2016G>A
ENST00000682453.1:c.3276G>A	ENSP00000506943.1:p.Pro1092=
ENST00000682477.1:c.*2702G>A	ENSP00000507075.1:n.*2702G>A
ENST00000682589.1:n.9153G>A
ENST00000682755.1:c.3054G>A	ENSP00000507660.1:p.Pro1018=
ENST00000682989.1:c.*367G>A	ENSP00000507786.1:n.*367G>A
ENST00000683039.1:c.3276G>A	ENSP00000508303.1:p.Pro1092=
ENST00000683235.1:c.*691G>A	ENSP00000507646.1:n.*691G>A
ENST00000683535.1:n.1406G>A
ENST00000684584.1:c.2439G>A	ENSP00000508044.1:p.Pro813=
ENST00000684626.1:n.1522G>A
ENST00000684769.1:c.1466G>A	ENSP00000507691.1:n.1466G>A
ENST00000259008.7:c.3276G>A MANE Select	ENSP00000259008.2:p.Pro1092=
ENST00000259008.6:c.3276G>A	ENSP00000259008.2:p.Pro1092=
NM_032043.2:c.3276G>A , LRG_300t1:c.3276G>A	NP_114432.2:p.Pro1092=
XM_011525332.1:c.3336G>A	XP_011523634.1:p.Pro1112=
XM_011525333.1:c.3336G>A	XP_011523635.1:p.Pro1112=
XM_011525334.1:c.3336G>A	XP_011523636.1:p.Pro1112=
XM_011525335.1:c.3276G>A	XP_011523637.1:p.Pro1092=
XM_011525336.1:c.3216G>A	XP_011523638.1:p.Pro1072=
XM_011525337.1:c.3135G>A	XP_011523639.1:p.Pro1045=
XM_011525338.1:c.2853G>A	XP_011523640.1:p.Pro951=
XM_011525332.3:c.3336G>A	XP_011523634.1:p.Pro1112=
XM_011525333.3:c.3336G>A	XP_011523635.1:p.Pro1112=
XM_011525334.2:c.3336G>A	XP_011523636.1:p.Pro1112=
XM_011525335.3:c.3276G>A	XP_011523637.1:p.Pro1092=
XM_011525336.2:c.3216G>A	XP_011523638.1:p.Pro1072=
XM_011525337.2:c.3135G>A	XP_011523639.1:p.Pro1045=
XM_011525338.2:c.2853G>A	XP_011523640.1:p.Pro951=
XM_017025200.1:c.2793G>A	XP_016880689.1:p.Pro931=
XM_017025201.1:c.2793G>A	XP_016880690.1:p.Pro931=
XM_017025202.1:c.1422G>A	XP_016880691.1:p.Pro474=
XM_017025203.1:c.1422G>A	XP_016880692.1:p.Pro474=
NM_032043.3:c.3276G>A MANE Select	NP_114432.2:p.Pro1092=