Canonical Allele Identifier: CA400481383

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2120182
• ClinVar RCV Id: RCV003059253
• dbSNP Id: rs2144109471
• MyVariant Identifiers: chr17:g.59763265A>T (hg19) ; chr17:g.61685904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685904A>T , CM000679.2:g.61685904A>T	GRCh38
NC_000017.10:g.59763265A>T , CM000679.1:g.59763265A>T	GRCh37
NC_000017.9:g.57118047A>T	NCBI36
NG_007409.2:g.182656T>A , LRG_300:g.182656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2967T>A	ENSP00000507191.1:n.2967T>A
ENST00000682073.1:n.1577T>A
ENST00000682433.1:n.1916T>A
ENST00000682453.1:c.2837T>A	ENSP00000506943.1:p.Leu946Gln
ENST00000682477.1:c.*2263T>A	ENSP00000507075.1:n.*2263T>A
ENST00000682589.1:n.8714T>A
ENST00000682755.1:c.2615T>A	ENSP00000507660.1:p.Leu872Gln
ENST00000682989.1:c.2610-1764T>A	ENSP00000507786.1:n.2610-1764T>A
ENST00000683039.1:c.2837T>A	ENSP00000508303.1:p.Leu946Gln
ENST00000683235.1:c.*252T>A	ENSP00000507646.1:n.*252T>A
ENST00000683535.1:n.967T>A
ENST00000684471.1:n.1250T>A
ENST00000684584.1:c.2069-1764T>A	ENSP00000508044.1:n.2069-1764T>A
ENST00000684626.1:n.1083T>A
ENST00000684769.1:c.1027T>A	ENSP00000507691.1:n.1027T>A
ENST00000259008.7:c.2837T>A MANE Select	ENSP00000259008.2:p.Leu946Gln
ENST00000259008.6:c.2837T>A	ENSP00000259008.2:p.Leu946Gln
ENST00000577598.5:c.2837T>A	ENSP00000464654.1:p.Leu946Gln
NM_032043.2:c.2837T>A , LRG_300t1:c.2837T>A	NP_114432.2:p.Leu946Gln
XM_011525332.1:c.2897T>A	XP_011523634.1:p.Leu966Gln
XM_011525333.1:c.2897T>A	XP_011523635.1:p.Leu966Gln
XM_011525334.1:c.2897T>A	XP_011523636.1:p.Leu966Gln
XM_011525335.1:c.2837T>A	XP_011523637.1:p.Leu946Gln
XM_011525336.1:c.2777T>A	XP_011523638.1:p.Leu926Gln
XM_011525337.1:c.2696T>A	XP_011523639.1:p.Leu899Gln
XM_011525338.1:c.2414T>A	XP_011523640.1:p.Leu805Gln
XM_011525332.3:c.2897T>A	XP_011523634.1:p.Leu966Gln
XM_011525333.3:c.2897T>A	XP_011523635.1:p.Leu966Gln
XM_011525334.2:c.2897T>A	XP_011523636.1:p.Leu966Gln
XM_011525335.3:c.2837T>A	XP_011523637.1:p.Leu946Gln
XM_011525336.2:c.2777T>A	XP_011523638.1:p.Leu926Gln
XM_011525337.2:c.2696T>A	XP_011523639.1:p.Leu899Gln
XM_011525338.2:c.2414T>A	XP_011523640.1:p.Leu805Gln
XM_017025200.1:c.2354T>A	XP_016880689.1:p.Leu785Gln
XM_017025201.1:c.2354T>A	XP_016880690.1:p.Leu785Gln
XM_017025202.1:c.983T>A	XP_016880691.1:p.Leu328Gln
XM_017025203.1:c.983T>A	XP_016880692.1:p.Leu328Gln
NM_032043.3:c.2837T>A MANE Select	NP_114432.2:p.Leu946Gln