Canonical Allele Identifier: CA400479371

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144084979
• MyVariant Identifiers: chr17:g.59761215A>T (hg19) ; chr17:g.61683854A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683854A>T , CM000679.2:g.61683854A>T	GRCh38
NC_000017.10:g.59761215A>T , CM000679.1:g.59761215A>T	GRCh37
NC_000017.9:g.57115997A>T	NCBI36
NG_007409.2:g.184706T>A , LRG_300:g.184706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1932T>A
ENST00000682453.1:c.3192T>A	ENSP00000506943.1:p.Phe1064Leu
ENST00000682477.1:c.*2618T>A	ENSP00000507075.1:n.*2618T>A
ENST00000682589.1:n.9069T>A
ENST00000682755.1:c.2970T>A	ENSP00000507660.1:p.Phe990Leu
ENST00000682989.1:c.*283T>A	ENSP00000507786.1:n.*283T>A
ENST00000683039.1:c.3192T>A	ENSP00000508303.1:p.Phe1064Leu
ENST00000683235.1:c.*607T>A	ENSP00000507646.1:n.*607T>A
ENST00000683535.1:n.1322T>A
ENST00000684584.1:c.2355T>A	ENSP00000508044.1:p.Phe785Leu
ENST00000684626.1:n.1438T>A
ENST00000684769.1:c.1382T>A	ENSP00000507691.1:n.1382T>A
ENST00000259008.7:c.3192T>A MANE Select	ENSP00000259008.2:p.Phe1064Leu
ENST00000259008.6:c.3192T>A	ENSP00000259008.2:p.Phe1064Leu
NM_032043.2:c.3192T>A , LRG_300t1:c.3192T>A	NP_114432.2:p.Phe1064Leu
XM_011525332.1:c.3252T>A	XP_011523634.1:p.Phe1084Leu
XM_011525333.1:c.3252T>A	XP_011523635.1:p.Phe1084Leu
XM_011525334.1:c.3252T>A	XP_011523636.1:p.Phe1084Leu
XM_011525335.1:c.3192T>A	XP_011523637.1:p.Phe1064Leu
XM_011525336.1:c.3132T>A	XP_011523638.1:p.Phe1044Leu
XM_011525337.1:c.3051T>A	XP_011523639.1:p.Phe1017Leu
XM_011525338.1:c.2769T>A	XP_011523640.1:p.Phe923Leu
XM_011525332.3:c.3252T>A	XP_011523634.1:p.Phe1084Leu
XM_011525333.3:c.3252T>A	XP_011523635.1:p.Phe1084Leu
XM_011525334.2:c.3252T>A	XP_011523636.1:p.Phe1084Leu
XM_011525335.3:c.3192T>A	XP_011523637.1:p.Phe1064Leu
XM_011525336.2:c.3132T>A	XP_011523638.1:p.Phe1044Leu
XM_011525337.2:c.3051T>A	XP_011523639.1:p.Phe1017Leu
XM_011525338.2:c.2769T>A	XP_011523640.1:p.Phe923Leu
XM_017025200.1:c.2709T>A	XP_016880689.1:p.Phe903Leu
XM_017025201.1:c.2709T>A	XP_016880690.1:p.Phe903Leu
XM_017025202.1:c.1338T>A	XP_016880691.1:p.Phe446Leu
XM_017025203.1:c.1338T>A	XP_016880692.1:p.Phe446Leu
NM_032043.3:c.3192T>A MANE Select	NP_114432.2:p.Phe1064Leu