Canonical Allele Identifier: CA8690369

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 230092
• ClinVar RCV Id: RCV000409082 ; RCV000410201 ; RCV000781176 ; RCV003316200 ; RCV004541346 ; RCV000213752 ; RCV000230206 ; RCV001618349
• dbSNP Id: rs369843642
• ExAC: 17:59761071 A / G
• gnomAD v2: 17-59761071-A-G
• gnomAD v3: 17-61683710-A-G
• gnomAD v4: 17-61683710-A-G
• MyVariant Identifiers: chr17:g.59761071A>G (hg19) ; chr17:g.61683710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683710A>G , CM000679.2:g.61683710A>G	GRCh38
NC_000017.10:g.59761071A>G , CM000679.1:g.59761071A>G	GRCh37
NC_000017.9:g.57115853A>G	NCBI36
NG_007409.2:g.184850T>C , LRG_300:g.184850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2076T>C
ENST00000682453.1:c.3336T>C	ENSP00000506943.1:p.Asp1112=
ENST00000682477.1:c.*2762T>C	ENSP00000507075.1:n.*2762T>C
ENST00000682589.1:n.9213T>C
ENST00000682755.1:c.3114T>C	ENSP00000507660.1:p.Asp1038=
ENST00000682989.1:c.*427T>C	ENSP00000507786.1:n.*427T>C
ENST00000683039.1:c.3336T>C	ENSP00000508303.1:p.Asp1112=
ENST00000683235.1:c.*751T>C	ENSP00000507646.1:n.*751T>C
ENST00000683535.1:n.1466T>C
ENST00000684584.1:c.2499T>C	ENSP00000508044.1:p.Asp833=
ENST00000684626.1:n.1582T>C
ENST00000684769.1:c.1526T>C	ENSP00000507691.1:n.1526T>C
ENST00000259008.7:c.3336T>C MANE Select	ENSP00000259008.2:p.Asp1112=
ENST00000259008.6:c.3336T>C	ENSP00000259008.2:p.Asp1112=
NM_032043.2:c.3336T>C , LRG_300t1:c.3336T>C	NP_114432.2:p.Asp1112=
XM_011525332.1:c.3396T>C	XP_011523634.1:p.Asp1132=
XM_011525333.1:c.3396T>C	XP_011523635.1:p.Asp1132=
XM_011525334.1:c.3396T>C	XP_011523636.1:p.Asp1132=
XM_011525335.1:c.3336T>C	XP_011523637.1:p.Asp1112=
XM_011525336.1:c.3276T>C	XP_011523638.1:p.Asp1092=
XM_011525337.1:c.3195T>C	XP_011523639.1:p.Asp1065=
XM_011525338.1:c.2913T>C	XP_011523640.1:p.Asp971=
XM_011525332.3:c.3396T>C	XP_011523634.1:p.Asp1132=
XM_011525333.3:c.3396T>C	XP_011523635.1:p.Asp1132=
XM_011525334.2:c.3396T>C	XP_011523636.1:p.Asp1132=
XM_011525335.3:c.3336T>C	XP_011523637.1:p.Asp1112=
XM_011525336.2:c.3276T>C	XP_011523638.1:p.Asp1092=
XM_011525337.2:c.3195T>C	XP_011523639.1:p.Asp1065=
XM_011525338.2:c.2913T>C	XP_011523640.1:p.Asp971=
XM_017025200.1:c.2853T>C	XP_016880689.1:p.Asp951=
XM_017025201.1:c.2853T>C	XP_016880690.1:p.Asp951=
XM_017025202.1:c.1482T>C	XP_016880691.1:p.Asp494=
XM_017025203.1:c.1482T>C	XP_016880692.1:p.Asp494=
NM_032043.3:c.3336T>C MANE Select	NP_114432.2:p.Asp1112=