Canonical Allele Identifier: CA168685

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 142551
• ClinVar RCV Id: RCV000131744 ; RCV000763016 ; RCV003335125
• dbSNP Id: rs587782539
• gnomAD v4: 17-61686166-C-T
• MyVariant Identifiers: chr17:g.59763527C>T (hg19) ; chr17:g.61686166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61686166C>T , CM000679.2:g.61686166C>T	GRCh38
NC_000017.10:g.59763527C>T , CM000679.1:g.59763527C>T	GRCh37
NC_000017.9:g.57118309C>T	NCBI36
NG_007409.2:g.182394G>A , LRG_300:g.182394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2706-1G>A	ENSP00000507191.1:n.2706-1G>A
ENST00000682073.1:n.1316-1G>A
ENST00000682433.1:n.1655-1G>A
ENST00000682453.1:c.2576-1G>A	ENSP00000506943.1:n.2576-1G>A
ENST00000682477.1:c.*2002-1G>A	ENSP00000507075.1:n.*2002-1G>A
ENST00000682589.1:n.8453-1G>A
ENST00000682755.1:c.2354-1G>A	ENSP00000507660.1:n.2354-1G>A
ENST00000682989.1:c.2610-2026G>A	ENSP00000507786.1:n.2610-2026G>A
ENST00000683039.1:c.2576-1G>A	ENSP00000508303.1:n.2576-1G>A
ENST00000683235.1:c.2493-1G>A	ENSP00000507646.1:n.2493-1G>A
ENST00000683535.1:n.706-1G>A
ENST00000684471.1:n.989-1G>A
ENST00000684584.1:c.2069-2026G>A	ENSP00000508044.1:n.2069-2026G>A
ENST00000684626.1:n.822-1G>A
ENST00000684769.1:c.766-1G>A	ENSP00000507691.1:n.766-1G>A
ENST00000259008.7:c.2576-1G>A MANE Select	ENSP00000259008.2:n.2576-1G>A
ENST00000259008.6:c.2576-1G>A	ENSP00000259008.2:n.2576-1G>A
ENST00000577598.5:c.2576-1G>A	ENSP00000464654.1:n.2576-1G>A
NM_032043.2:c.2576-1G>A , LRG_300t1:c.2576-1G>A	NP_114432.2:n.2576-1G>A
XM_011525332.1:c.2636-1G>A	XP_011523634.1:n.2636-1G>A
XM_011525333.1:c.2636-1G>A	XP_011523635.1:n.2636-1G>A
XM_011525334.1:c.2636-1G>A	XP_011523636.1:n.2636-1G>A
XM_011525335.1:c.2576-1G>A	XP_011523637.1:n.2576-1G>A
XM_011525336.1:c.2516-1G>A	XP_011523638.1:n.2516-1G>A
XM_011525337.1:c.2435-1G>A	XP_011523639.1:n.2435-1G>A
XM_011525338.1:c.2153-1G>A	XP_011523640.1:n.2153-1G>A
XM_011525340.1:c.2553-1G>A	XP_011523642.1:n.2553-1G>A
XM_011525332.3:c.2636-1G>A	XP_011523634.1:n.2636-1G>A
XM_011525333.3:c.2636-1G>A	XP_011523635.1:n.2636-1G>A
XM_011525334.2:c.2636-1G>A	XP_011523636.1:n.2636-1G>A
XM_011525335.3:c.2576-1G>A	XP_011523637.1:n.2576-1G>A
XM_011525336.2:c.2516-1G>A	XP_011523638.1:n.2516-1G>A
XM_011525337.2:c.2435-1G>A	XP_011523639.1:n.2435-1G>A
XM_011525338.2:c.2153-1G>A	XP_011523640.1:n.2153-1G>A
XM_011525340.3:c.2553-1G>A	XP_011523642.1:n.2553-1G>A
XM_017025200.1:c.2093-1G>A	XP_016880689.1:n.2093-1G>A
XM_017025201.1:c.2093-1G>A	XP_016880690.1:n.2093-1G>A
XM_017025202.1:c.722-1G>A	XP_016880691.1:n.722-1G>A
XM_017025203.1:c.722-1G>A	XP_016880692.1:n.722-1G>A
NM_032043.3:c.2576-1G>A MANE Select	NP_114432.2:n.2576-1G>A