Canonical Allele Identifier: CA400482529

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2948026
• ClinVar RCV Id: RCV003806848
• dbSNP Id: rs2144675069
• MyVariant Identifiers: chr17:g.59820378A>T (hg19) ; chr17:g.61743017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743017A>T , CM000679.2:g.61743017A>T	GRCh38
NC_000017.10:g.59820378A>T , CM000679.1:g.59820378A>T	GRCh37
NC_000017.9:g.57175160A>T	NCBI36
NG_007409.2:g.125543T>A , LRG_300:g.125543T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2375T>A	ENSP00000463272.2:p.Leu792Gln
ENST00000682066.1:c.2505T>A	ENSP00000507191.1:n.2505T>A
ENST00000682073.1:n.1115T>A
ENST00000682433.1:n.1454T>A
ENST00000682453.1:c.2375T>A	ENSP00000506943.1:p.Leu792Gln
ENST00000682477.1:c.*1801T>A	ENSP00000507075.1:n.*1801T>A
ENST00000682589.1:n.8252T>A
ENST00000682755.1:c.2153T>A	ENSP00000507660.1:p.Leu718Gln
ENST00000682989.1:c.2375T>A	ENSP00000507786.1:p.Leu792Gln
ENST00000683039.1:c.2375T>A	ENSP00000508303.1:p.Leu792Gln
ENST00000683235.1:c.2375T>A	ENSP00000507646.1:p.Leu792Gln
ENST00000683381.1:c.2435T>A	ENSP00000508184.1:p.Leu812Gln
ENST00000683535.1:n.505T>A
ENST00000684471.1:n.788T>A
ENST00000684584.1:c.1868T>A	ENSP00000508044.1:p.Leu623Gln
ENST00000684769.1:c.440T>A	ENSP00000507691.1:p.Leu147Gln
ENST00000259008.7:c.2375T>A MANE Select	ENSP00000259008.2:p.Leu792Gln
ENST00000259008.6:c.2375T>A	ENSP00000259008.2:p.Leu792Gln
ENST00000577598.5:c.2375T>A	ENSP00000464654.1:p.Leu792Gln
ENST00000584322.1:c.358T>A
NM_032043.2:c.2375T>A , LRG_300t1:c.2375T>A	NP_114432.2:p.Leu792Gln
XM_011525332.1:c.2435T>A	XP_011523634.1:p.Leu812Gln
XM_011525333.1:c.2435T>A	XP_011523635.1:p.Leu812Gln
XM_011525334.1:c.2435T>A	XP_011523636.1:p.Leu812Gln
XM_011525335.1:c.2375T>A	XP_011523637.1:p.Leu792Gln
XM_011525336.1:c.2315T>A	XP_011523638.1:p.Leu772Gln
XM_011525337.1:c.2234T>A	XP_011523639.1:p.Leu745Gln
XM_011525338.1:c.1952T>A	XP_011523640.1:p.Leu651Gln
XM_011525339.1:c.2435T>A	XP_011523641.1:p.Leu812Gln
XM_011525340.1:c.2435T>A	XP_011523642.1:p.Leu812Gln
XR_934894.1:n.524-1164A>T
XM_011525332.3:c.2435T>A	XP_011523634.1:p.Leu812Gln
XM_011525333.3:c.2435T>A	XP_011523635.1:p.Leu812Gln
XM_011525334.2:c.2435T>A	XP_011523636.1:p.Leu812Gln
XM_011525335.3:c.2375T>A	XP_011523637.1:p.Leu792Gln
XM_011525336.2:c.2315T>A	XP_011523638.1:p.Leu772Gln
XM_011525337.2:c.2234T>A	XP_011523639.1:p.Leu745Gln
XM_011525338.2:c.1952T>A	XP_011523640.1:p.Leu651Gln
XM_011525339.3:c.2435T>A	XP_011523641.1:p.Leu812Gln
XM_011525340.3:c.2435T>A	XP_011523642.1:p.Leu812Gln
XM_017025200.1:c.1892T>A	XP_016880689.1:p.Leu631Gln
XM_017025201.1:c.1892T>A	XP_016880690.1:p.Leu631Gln
XM_017025202.1:c.521T>A	XP_016880691.1:p.Leu174Gln
XM_017025203.1:c.521T>A	XP_016880692.1:p.Leu174Gln
NM_032043.3:c.2375T>A MANE Select	NP_114432.2:p.Leu792Gln