Canonical Allele Identifier: CA2269130978

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683767G= , CM000679.2:g.61683767G=	GRCh38
NC_000017.10:g.59761128G= , CM000679.1:g.59761128G=	GRCh37
NC_000017.9:g.57115910G=	NCBI36
NG_007409.2:g.184793C= , LRG_300:g.184793C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2019C=
ENST00000682453.1:c.3279C=	ENSP00000506943.1:p.Leu1093=
ENST00000682477.1:c.*2705C=	ENSP00000507075.1:n.*2705C=
ENST00000682589.1:n.9156C=
ENST00000682755.1:c.3057C=	ENSP00000507660.1:p.Leu1019=
ENST00000682989.1:c.*370C=	ENSP00000507786.1:n.*370C=
ENST00000683039.1:c.3279C=	ENSP00000508303.1:p.Leu1093=
ENST00000683235.1:c.*694C=	ENSP00000507646.1:n.*694C=
ENST00000683535.1:n.1409C=
ENST00000684584.1:c.2442C=	ENSP00000508044.1:p.Leu814=
ENST00000684626.1:n.1525C=
ENST00000684769.1:c.1469C=	ENSP00000507691.1:n.1469C=
ENST00000259008.7:c.3279C= MANE Select	ENSP00000259008.2:p.Leu1093=
ENST00000259008.6:c.3279C=	ENSP00000259008.2:p.Leu1093=
NM_032043.2:c.3279C= , LRG_300t1:c.3279C=	NP_114432.2:p.Leu1093=
XM_011525332.1:c.3339C=	XP_011523634.1:p.Leu1113=
XM_011525333.1:c.3339C=	XP_011523635.1:p.Leu1113=
XM_011525334.1:c.3339C=	XP_011523636.1:p.Leu1113=
XM_011525335.1:c.3279C=	XP_011523637.1:p.Leu1093=
XM_011525336.1:c.3219C=	XP_011523638.1:p.Leu1073=
XM_011525337.1:c.3138C=	XP_011523639.1:p.Leu1046=
XM_011525338.1:c.2856C=	XP_011523640.1:p.Leu952=
XM_011525332.3:c.3339C=	XP_011523634.1:p.Leu1113=
XM_011525333.3:c.3339C=	XP_011523635.1:p.Leu1113=
XM_011525334.2:c.3339C=	XP_011523636.1:p.Leu1113=
XM_011525335.3:c.3279C=	XP_011523637.1:p.Leu1093=
XM_011525336.2:c.3219C=	XP_011523638.1:p.Leu1073=
XM_011525337.2:c.3138C=	XP_011523639.1:p.Leu1046=
XM_011525338.2:c.2856C=	XP_011523640.1:p.Leu952=
XM_017025200.1:c.2796C=	XP_016880689.1:p.Leu932=
XM_017025201.1:c.2796C=	XP_016880690.1:p.Leu932=
XM_017025202.1:c.1425C=	XP_016880691.1:p.Leu475=
XM_017025203.1:c.1425C=	XP_016880692.1:p.Leu475=
NM_032043.3:c.3279C= MANE Select	NP_114432.2:p.Leu1093=