Canonical Allele Identifier: CA400479400

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144379102
• MyVariant Identifiers: chr17:g.59793318A>T (hg19) ; chr17:g.61715957A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61715957A>T , CM000679.2:g.61715957A>T	GRCh38
NC_000017.10:g.59793318A>T , CM000679.1:g.59793318A>T	GRCh37
NC_000017.9:g.57148100A>T	NCBI36
NG_007409.2:g.152603T>A , LRG_300:g.152603T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2616T>A	ENSP00000507191.1:n.2616T>A
ENST00000682073.1:n.1226T>A
ENST00000682433.1:n.1565T>A
ENST00000682453.1:c.2486T>A	ENSP00000506943.1:p.Leu829His
ENST00000682477.1:c.*1912T>A	ENSP00000507075.1:n.*1912T>A
ENST00000682589.1:n.8363T>A
ENST00000682755.1:c.2264T>A	ENSP00000507660.1:p.Leu755His
ENST00000682989.1:c.2486T>A	ENSP00000507786.1:p.Leu829His
ENST00000683039.1:c.2486T>A	ENSP00000508303.1:p.Leu829His
ENST00000683235.1:c.2486T>A	ENSP00000507646.1:p.Leu829His
ENST00000683535.1:n.616T>A
ENST00000684471.1:n.899T>A
ENST00000684584.1:c.1979T>A	ENSP00000508044.1:p.Leu660His
ENST00000684626.1:n.815T>A
ENST00000684769.1:c.551T>A	ENSP00000507691.1:p.Leu184His
ENST00000259008.7:c.2486T>A MANE Select	ENSP00000259008.2:p.Leu829His
ENST00000259008.6:c.2486T>A	ENSP00000259008.2:p.Leu829His
ENST00000577598.5:c.2486T>A	ENSP00000464654.1:p.Leu829His
NM_032043.2:c.2486T>A , LRG_300t1:c.2486T>A	NP_114432.2:p.Leu829His
XM_011525332.1:c.2546T>A	XP_011523634.1:p.Leu849His
XM_011525333.1:c.2546T>A	XP_011523635.1:p.Leu849His
XM_011525334.1:c.2546T>A	XP_011523636.1:p.Leu849His
XM_011525335.1:c.2486T>A	XP_011523637.1:p.Leu829His
XM_011525336.1:c.2426T>A	XP_011523638.1:p.Leu809His
XM_011525337.1:c.2345T>A	XP_011523639.1:p.Leu782His
XM_011525338.1:c.2063T>A	XP_011523640.1:p.Leu688His
XM_011525340.1:c.2546T>A	XP_011523642.1:p.Leu849His
XM_011525332.3:c.2546T>A	XP_011523634.1:p.Leu849His
XM_011525333.3:c.2546T>A	XP_011523635.1:p.Leu849His
XM_011525334.2:c.2546T>A	XP_011523636.1:p.Leu849His
XM_011525335.3:c.2486T>A	XP_011523637.1:p.Leu829His
XM_011525336.2:c.2426T>A	XP_011523638.1:p.Leu809His
XM_011525337.2:c.2345T>A	XP_011523639.1:p.Leu782His
XM_011525338.2:c.2063T>A	XP_011523640.1:p.Leu688His
XM_011525340.3:c.2546T>A	XP_011523642.1:p.Leu849His
XM_017025200.1:c.2003T>A	XP_016880689.1:p.Leu668His
XM_017025201.1:c.2003T>A	XP_016880690.1:p.Leu668His
XM_017025202.1:c.632T>A	XP_016880691.1:p.Leu211His
XM_017025203.1:c.632T>A	XP_016880692.1:p.Leu211His
NM_032043.3:c.2486T>A MANE Select	NP_114432.2:p.Leu829His