Canonical Allele Identifier: CA400480043

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 920730
• ClinVar RCV Id: RCV001179676 ; RCV001875945
• dbSNP Id: rs1567812484
• gnomAD v4: 17-61780318-T-A
• MyVariant Identifiers: chr17:g.59857679T>A (hg19) ; chr17:g.61780318T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61780318T>A , CM000679.2:g.61780318T>A	GRCh38
NC_000017.10:g.59857679T>A , CM000679.1:g.59857679T>A	GRCh37
NC_000017.9:g.57212461T>A	NCBI36
NG_007409.2:g.88242A>T , LRG_300:g.88242A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1460A>T	ENSP00000463827.2:n.1460A>T
ENST00000584322.2:c.1878A>T	ENSP00000463272.2:p.Glu626Asp
ENST00000682066.1:c.1371A>T	ENSP00000507191.1:p.Glu457Asp
ENST00000682073.1:n.618A>T
ENST00000682453.1:c.1878A>T	ENSP00000506943.1:p.Glu626Asp
ENST00000682477.1:c.*1304A>T	ENSP00000507075.1:n.*1304A>T
ENST00000682589.1:n.4057A>T
ENST00000682611.1:c.1371A>T	ENSP00000508326.1:p.Glu457Asp
ENST00000682755.1:c.1656A>T	ENSP00000507660.1:p.Glu552Asp
ENST00000682989.1:c.1878A>T	ENSP00000507786.1:p.Glu626Asp
ENST00000683039.1:c.1878A>T	ENSP00000508303.1:p.Glu626Asp
ENST00000683235.1:c.1878A>T	ENSP00000507646.1:p.Glu626Asp
ENST00000683381.1:c.1878A>T	ENSP00000508184.1:p.Glu626Asp
ENST00000684471.1:n.351A>T
ENST00000684584.1:c.1371A>T	ENSP00000508044.1:p.Glu457Asp
ENST00000259008.7:c.1878A>T MANE Select	ENSP00000259008.2:p.Glu626Asp
ENST00000259008.6:c.1878A>T	ENSP00000259008.2:p.Glu626Asp
ENST00000577598.5:c.1878A>T	ENSP00000464654.1:p.Glu626Asp
ENST00000579028.1:c.571A>T
NM_032043.2:c.1878A>T , LRG_300t1:c.1878A>T	NP_114432.2:p.Glu626Asp
XM_011525332.1:c.1878A>T	XP_011523634.1:p.Glu626Asp
XM_011525333.1:c.1878A>T	XP_011523635.1:p.Glu626Asp
XM_011525334.1:c.1878A>T	XP_011523636.1:p.Glu626Asp
XM_011525335.1:c.1878A>T	XP_011523637.1:p.Glu626Asp
XM_011525336.1:c.1878A>T	XP_011523638.1:p.Glu626Asp
XM_011525337.1:c.1794+522A>T	XP_011523639.1:n.1794+522A>T
XM_011525338.1:c.1395A>T	XP_011523640.1:p.Glu465Asp
XM_011525339.1:c.1878A>T	XP_011523641.1:p.Glu626Asp
XM_011525340.1:c.1878A>T	XP_011523642.1:p.Glu626Asp
XM_011525341.1:c.1878A>T	XP_011523643.1:p.Glu626Asp
XM_011525332.3:c.1878A>T	XP_011523634.1:p.Glu626Asp
XM_011525333.3:c.1878A>T	XP_011523635.1:p.Glu626Asp
XM_011525334.2:c.1878A>T	XP_011523636.1:p.Glu626Asp
XM_011525335.3:c.1878A>T	XP_011523637.1:p.Glu626Asp
XM_011525336.2:c.1878A>T	XP_011523638.1:p.Glu626Asp
XM_011525337.2:c.1794+522A>T	XP_011523639.1:n.1794+522A>T
XM_011525338.2:c.1395A>T	XP_011523640.1:p.Glu465Asp
XM_011525339.3:c.1878A>T	XP_011523641.1:p.Glu626Asp
XM_011525340.3:c.1878A>T	XP_011523642.1:p.Glu626Asp
XM_011525341.3:c.1878A>T	XP_011523643.1:p.Glu626Asp
XM_017025200.1:c.1395A>T	XP_016880689.1:p.Glu465Asp
XM_017025201.1:c.1335A>T	XP_016880690.1:p.Glu445Asp
XM_017025203.1:c.-83A>T	XP_016880692.1:n.-83A>T
NM_032043.3:c.1878A>T MANE Select	NP_114432.2:p.Glu626Asp