Canonical Allele Identifier: CA10583622

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241641
• ClinVar RCV Id: RCV000229009 ; RCV000580273 ; RCV003335280
• dbSNP Id: rs786203898
• gnomAD v4: 17-61715964-G-A
• MyVariant Identifiers: chr17:g.59793325G>A (hg19) ; chr17:g.61715964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715964G>A , CM000679.2:g.61715964G>A	GRCh38
NC_000017.10:g.59793325G>A , CM000679.1:g.59793325G>A	GRCh37
NC_000017.9:g.57148107G>A	NCBI36
NG_007409.2:g.152596C>T , LRG_300:g.152596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2609C>T	ENSP00000507191.1:n.2609C>T
ENST00000682073.1:n.1219C>T
ENST00000682433.1:n.1558C>T
ENST00000682453.1:c.2479C>T	ENSP00000506943.1:p.Gln827Ter
ENST00000682477.1:c.*1905C>T	ENSP00000507075.1:n.*1905C>T
ENST00000682589.1:n.8356C>T
ENST00000682755.1:c.2257C>T	ENSP00000507660.1:p.Gln753Ter
ENST00000682989.1:c.2479C>T	ENSP00000507786.1:p.Gln827Ter
ENST00000683039.1:c.2479C>T	ENSP00000508303.1:p.Gln827Ter
ENST00000683235.1:c.2479C>T	ENSP00000507646.1:p.Gln827Ter
ENST00000683535.1:n.609C>T
ENST00000684471.1:n.892C>T
ENST00000684584.1:c.1972C>T	ENSP00000508044.1:p.Gln658Ter
ENST00000684626.1:n.808C>T
ENST00000684769.1:c.544C>T	ENSP00000507691.1:p.Gln182Ter
ENST00000259008.7:c.2479C>T MANE Select	ENSP00000259008.2:p.Gln827Ter
ENST00000259008.6:c.2479C>T	ENSP00000259008.2:p.Gln827Ter
ENST00000577598.5:c.2479C>T	ENSP00000464654.1:p.Gln827Ter
NM_032043.2:c.2479C>T , LRG_300t1:c.2479C>T	NP_114432.2:p.Gln827Ter
XM_011525332.1:c.2539C>T	XP_011523634.1:p.Gln847Ter
XM_011525333.1:c.2539C>T	XP_011523635.1:p.Gln847Ter
XM_011525334.1:c.2539C>T	XP_011523636.1:p.Gln847Ter
XM_011525335.1:c.2479C>T	XP_011523637.1:p.Gln827Ter
XM_011525336.1:c.2419C>T	XP_011523638.1:p.Gln807Ter
XM_011525337.1:c.2338C>T	XP_011523639.1:p.Gln780Ter
XM_011525338.1:c.2056C>T	XP_011523640.1:p.Gln686Ter
XM_011525340.1:c.2539C>T	XP_011523642.1:p.Gln847Ter
XM_011525332.3:c.2539C>T	XP_011523634.1:p.Gln847Ter
XM_011525333.3:c.2539C>T	XP_011523635.1:p.Gln847Ter
XM_011525334.2:c.2539C>T	XP_011523636.1:p.Gln847Ter
XM_011525335.3:c.2479C>T	XP_011523637.1:p.Gln827Ter
XM_011525336.2:c.2419C>T	XP_011523638.1:p.Gln807Ter
XM_011525337.2:c.2338C>T	XP_011523639.1:p.Gln780Ter
XM_011525338.2:c.2056C>T	XP_011523640.1:p.Gln686Ter
XM_011525340.3:c.2539C>T	XP_011523642.1:p.Gln847Ter
XM_017025200.1:c.1996C>T	XP_016880689.1:p.Gln666Ter
XM_017025201.1:c.1996C>T	XP_016880690.1:p.Gln666Ter
XM_017025202.1:c.625C>T	XP_016880691.1:p.Gln209Ter
XM_017025203.1:c.625C>T	XP_016880692.1:p.Gln209Ter
NM_032043.3:c.2479C>T MANE Select	NP_114432.2:p.Gln827Ter