Canonical Allele Identifier: CA10577560

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 234579
• ClinVar RCV Id: RCV000222877 ; RCV000689257 ; RCV001015298
• dbSNP Id: rs876661097
• MyVariant Identifiers: chr17:g.59820388C>A (hg19) ; chr17:g.61743027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743027C>A , CM000679.2:g.61743027C>A	GRCh38
NC_000017.10:g.59820388C>A , CM000679.1:g.59820388C>A	GRCh37
NC_000017.9:g.57175170C>A	NCBI36
NG_007409.2:g.125533G>T , LRG_300:g.125533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2365G>T	ENSP00000463272.2:p.Val789Leu
ENST00000682066.1:c.2495G>T	ENSP00000507191.1:n.2495G>T
ENST00000682073.1:n.1105G>T
ENST00000682433.1:n.1444G>T
ENST00000682453.1:c.2365G>T	ENSP00000506943.1:p.Val789Leu
ENST00000682477.1:c.*1791G>T	ENSP00000507075.1:n.*1791G>T
ENST00000682589.1:n.8242G>T
ENST00000682755.1:c.2143G>T	ENSP00000507660.1:p.Val715Leu
ENST00000682989.1:c.2365G>T	ENSP00000507786.1:p.Val789Leu
ENST00000683039.1:c.2365G>T	ENSP00000508303.1:p.Val789Leu
ENST00000683235.1:c.2365G>T	ENSP00000507646.1:p.Val789Leu
ENST00000683381.1:c.2425G>T	ENSP00000508184.1:p.Val809Leu
ENST00000683535.1:n.495G>T
ENST00000684471.1:n.778G>T
ENST00000684584.1:c.1858G>T	ENSP00000508044.1:p.Val620Leu
ENST00000684769.1:c.430G>T	ENSP00000507691.1:p.Val144Leu
ENST00000259008.7:c.2365G>T MANE Select	ENSP00000259008.2:p.Val789Leu
ENST00000259008.6:c.2365G>T	ENSP00000259008.2:p.Val789Leu
ENST00000577598.5:c.2365G>T	ENSP00000464654.1:p.Val789Leu
ENST00000584322.1:c.348G>T
NM_032043.2:c.2365G>T , LRG_300t1:c.2365G>T	NP_114432.2:p.Val789Leu
XM_011525332.1:c.2425G>T	XP_011523634.1:p.Val809Leu
XM_011525333.1:c.2425G>T	XP_011523635.1:p.Val809Leu
XM_011525334.1:c.2425G>T	XP_011523636.1:p.Val809Leu
XM_011525335.1:c.2365G>T	XP_011523637.1:p.Val789Leu
XM_011525336.1:c.2305G>T	XP_011523638.1:p.Val769Leu
XM_011525337.1:c.2224G>T	XP_011523639.1:p.Val742Leu
XM_011525338.1:c.1942G>T	XP_011523640.1:p.Val648Leu
XM_011525339.1:c.2425G>T	XP_011523641.1:p.Val809Leu
XM_011525340.1:c.2425G>T	XP_011523642.1:p.Val809Leu
XR_934894.1:n.524-1154C>A
XM_011525332.3:c.2425G>T	XP_011523634.1:p.Val809Leu
XM_011525333.3:c.2425G>T	XP_011523635.1:p.Val809Leu
XM_011525334.2:c.2425G>T	XP_011523636.1:p.Val809Leu
XM_011525335.3:c.2365G>T	XP_011523637.1:p.Val789Leu
XM_011525336.2:c.2305G>T	XP_011523638.1:p.Val769Leu
XM_011525337.2:c.2224G>T	XP_011523639.1:p.Val742Leu
XM_011525338.2:c.1942G>T	XP_011523640.1:p.Val648Leu
XM_011525339.3:c.2425G>T	XP_011523641.1:p.Val809Leu
XM_011525340.3:c.2425G>T	XP_011523642.1:p.Val809Leu
XM_017025200.1:c.1882G>T	XP_016880689.1:p.Val628Leu
XM_017025201.1:c.1882G>T	XP_016880690.1:p.Val628Leu
XM_017025202.1:c.511G>T	XP_016880691.1:p.Val171Leu
XM_017025203.1:c.511G>T	XP_016880692.1:p.Val171Leu
NM_032043.3:c.2365G>T MANE Select	NP_114432.2:p.Val789Leu