Canonical Allele Identifier: CA400482947

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 491435
• ClinVar RCV Id: RCV000581423 ; RCV003336071 ; RCV003767302
• dbSNP Id: rs1555591361
• gnomAD v4: 17-61744471-G-A
• MyVariant Identifiers: chr17:g.59821832G>A (hg19) ; chr17:g.61744471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61744471G>A , CM000679.2:g.61744471G>A	GRCh38
NC_000017.10:g.59821832G>A , CM000679.1:g.59821832G>A	GRCh37
NC_000017.9:g.57176614G>A	NCBI36
NG_007409.2:g.124089C>T , LRG_300:g.124089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1800C>T	ENSP00000463827.2:n.1800C>T
ENST00000584322.2:c.2218C>T	ENSP00000463272.2:p.Gln740Ter
ENST00000682066.1:c.2348C>T	ENSP00000507191.1:n.2348C>T
ENST00000682073.1:n.958C>T
ENST00000682433.1:n.1297C>T
ENST00000682453.1:c.2218C>T	ENSP00000506943.1:p.Gln740Ter
ENST00000682477.1:c.*1644C>T	ENSP00000507075.1:n.*1644C>T
ENST00000682589.1:n.8095C>T
ENST00000682755.1:c.1996C>T	ENSP00000507660.1:p.Gln666Ter
ENST00000682989.1:c.2218C>T	ENSP00000507786.1:p.Gln740Ter
ENST00000683039.1:c.2218C>T	ENSP00000508303.1:p.Gln740Ter
ENST00000683235.1:c.2218C>T	ENSP00000507646.1:p.Gln740Ter
ENST00000683381.1:c.2278C>T	ENSP00000508184.1:p.Gln760Ter
ENST00000683535.1:n.348C>T
ENST00000684471.1:n.631C>T
ENST00000684584.1:c.1711C>T	ENSP00000508044.1:p.Gln571Ter
ENST00000684769.1:c.283C>T	ENSP00000507691.1:p.Gln95Ter
ENST00000259008.7:c.2218C>T MANE Select	ENSP00000259008.2:p.Gln740Ter
ENST00000259008.6:c.2218C>T	ENSP00000259008.2:p.Gln740Ter
ENST00000577598.5:c.2218C>T	ENSP00000464654.1:p.Gln740Ter
ENST00000584322.1:c.201C>T
NM_032043.2:c.2218C>T , LRG_300t1:c.2218C>T	NP_114432.2:p.Gln740Ter
XM_011525332.1:c.2278C>T	XP_011523634.1:p.Gln760Ter
XM_011525333.1:c.2278C>T	XP_011523635.1:p.Gln760Ter
XM_011525334.1:c.2278C>T	XP_011523636.1:p.Gln760Ter
XM_011525335.1:c.2218C>T	XP_011523637.1:p.Gln740Ter
XM_011525336.1:c.2158C>T	XP_011523638.1:p.Gln720Ter
XM_011525337.1:c.2077C>T	XP_011523639.1:p.Gln693Ter
XM_011525338.1:c.1795C>T	XP_011523640.1:p.Gln599Ter
XM_011525339.1:c.2278C>T	XP_011523641.1:p.Gln760Ter
XM_011525340.1:c.2278C>T	XP_011523642.1:p.Gln760Ter
XM_011525332.3:c.2278C>T	XP_011523634.1:p.Gln760Ter
XM_011525333.3:c.2278C>T	XP_011523635.1:p.Gln760Ter
XM_011525334.2:c.2278C>T	XP_011523636.1:p.Gln760Ter
XM_011525335.3:c.2218C>T	XP_011523637.1:p.Gln740Ter
XM_011525336.2:c.2158C>T	XP_011523638.1:p.Gln720Ter
XM_011525337.2:c.2077C>T	XP_011523639.1:p.Gln693Ter
XM_011525338.2:c.1795C>T	XP_011523640.1:p.Gln599Ter
XM_011525339.3:c.2278C>T	XP_011523641.1:p.Gln760Ter
XM_011525340.3:c.2278C>T	XP_011523642.1:p.Gln760Ter
XM_017025200.1:c.1735C>T	XP_016880689.1:p.Gln579Ter
XM_017025201.1:c.1735C>T	XP_016880690.1:p.Gln579Ter
XM_017025202.1:c.364C>T	XP_016880691.1:p.Gln122Ter
XM_017025203.1:c.364C>T	XP_016880692.1:p.Gln122Ter
NM_032043.3:c.2218C>T MANE Select	NP_114432.2:p.Gln740Ter