Canonical Allele Identifier: CA294430

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 142529
• ClinVar RCV Id: RCV000131711 ; RCV000212326 ; RCV001220332
• dbSNP Id: rs45572934
• gnomAD v4: 17-61693463-G-T
• MyVariant Identifiers: chr17:g.59770824G>T (hg19) ; chr17:g.61693463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61693463G>T , CM000679.2:g.61693463G>T	GRCh38
NC_000017.10:g.59770824G>T , CM000679.1:g.59770824G>T	GRCh37
NC_000017.9:g.57125606G>T	NCBI36
NG_007409.2:g.175097C>A , LRG_300:g.175097C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2672C>A	ENSP00000507191.1:n.2672C>A
ENST00000682073.1:n.1282C>A
ENST00000682433.1:n.1621C>A
ENST00000682453.1:c.2542C>A	ENSP00000506943.1:p.Arg848Ser
ENST00000682477.1:c.*1968C>A	ENSP00000507075.1:n.*1968C>A
ENST00000682589.1:n.8419C>A
ENST00000682755.1:c.2320C>A	ENSP00000507660.1:p.Arg774Ser
ENST00000682989.1:c.2493-4991C>A	ENSP00000507786.1:n.2493-4991C>A
ENST00000683039.1:c.2542C>A	ENSP00000508303.1:p.Arg848Ser
ENST00000683235.1:c.2493-7298C>A	ENSP00000507646.1:n.2493-7298C>A
ENST00000683535.1:n.672C>A
ENST00000684471.1:n.955C>A
ENST00000684584.1:c.2035C>A	ENSP00000508044.1:p.Arg679Ser
ENST00000684626.1:n.822-7298C>A
ENST00000684769.1:c.607C>A	ENSP00000507691.1:p.Arg203Ser
ENST00000259008.7:c.2542C>A MANE Select	ENSP00000259008.2:p.Arg848Ser
ENST00000259008.6:c.2542C>A	ENSP00000259008.2:p.Arg848Ser
ENST00000577598.5:c.2542C>A	ENSP00000464654.1:p.Arg848Ser
NM_032043.2:c.2542C>A , LRG_300t1:c.2542C>A	NP_114432.2:p.Arg848Ser
XM_011525332.1:c.2602C>A	XP_011523634.1:p.Arg868Ser
XM_011525333.1:c.2602C>A	XP_011523635.1:p.Arg868Ser
XM_011525334.1:c.2602C>A	XP_011523636.1:p.Arg868Ser
XM_011525335.1:c.2542C>A	XP_011523637.1:p.Arg848Ser
XM_011525336.1:c.2482C>A	XP_011523638.1:p.Arg828Ser
XM_011525337.1:c.2401C>A	XP_011523639.1:p.Arg801Ser
XM_011525338.1:c.2119C>A	XP_011523640.1:p.Arg707Ser
XM_011525340.1:c.2553-7298C>A	XP_011523642.1:n.2553-7298C>A
XM_011525332.3:c.2602C>A	XP_011523634.1:p.Arg868Ser
XM_011525333.3:c.2602C>A	XP_011523635.1:p.Arg868Ser
XM_011525334.2:c.2602C>A	XP_011523636.1:p.Arg868Ser
XM_011525335.3:c.2542C>A	XP_011523637.1:p.Arg848Ser
XM_011525336.2:c.2482C>A	XP_011523638.1:p.Arg828Ser
XM_011525337.2:c.2401C>A	XP_011523639.1:p.Arg801Ser
XM_011525338.2:c.2119C>A	XP_011523640.1:p.Arg707Ser
XM_011525340.3:c.2553-7298C>A	XP_011523642.1:n.2553-7298C>A
XM_017025200.1:c.2059C>A	XP_016880689.1:p.Arg687Ser
XM_017025201.1:c.2059C>A	XP_016880690.1:p.Arg687Ser
XM_017025202.1:c.688C>A	XP_016880691.1:p.Arg230Ser
XM_017025203.1:c.688C>A	XP_016880692.1:p.Arg230Ser
NM_032043.3:c.2542C>A MANE Select	NP_114432.2:p.Arg848Ser