Canonical Allele Identifier: CA2269131002

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683803G= , CM000679.2:g.61683803G=	GRCh38
NC_000017.10:g.59761164G= , CM000679.1:g.59761164G=	GRCh37
NC_000017.9:g.57115946G=	NCBI36
NG_007409.2:g.184757C= , LRG_300:g.184757C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1983C=
ENST00000682453.1:c.3243C=	ENSP00000506943.1:p.Ala1081=
ENST00000682477.1:c.*2669C=	ENSP00000507075.1:n.*2669C=
ENST00000682589.1:n.9120C=
ENST00000682755.1:c.3021C=	ENSP00000507660.1:p.Ala1007=
ENST00000682989.1:c.*334C=	ENSP00000507786.1:n.*334C=
ENST00000683039.1:c.3243C=	ENSP00000508303.1:p.Ala1081=
ENST00000683235.1:c.*658C=	ENSP00000507646.1:n.*658C=
ENST00000683535.1:n.1373C=
ENST00000684584.1:c.2406C=	ENSP00000508044.1:p.Ala802=
ENST00000684626.1:n.1489C=
ENST00000684769.1:c.1433C=	ENSP00000507691.1:n.1433C=
ENST00000259008.7:c.3243C= MANE Select	ENSP00000259008.2:p.Ala1081=
ENST00000259008.6:c.3243C=	ENSP00000259008.2:p.Ala1081=
NM_032043.2:c.3243C= , LRG_300t1:c.3243C=	NP_114432.2:p.Ala1081=
XM_011525332.1:c.3303C=	XP_011523634.1:p.Ala1101=
XM_011525333.1:c.3303C=	XP_011523635.1:p.Ala1101=
XM_011525334.1:c.3303C=	XP_011523636.1:p.Ala1101=
XM_011525335.1:c.3243C=	XP_011523637.1:p.Ala1081=
XM_011525336.1:c.3183C=	XP_011523638.1:p.Ala1061=
XM_011525337.1:c.3102C=	XP_011523639.1:p.Ala1034=
XM_011525338.1:c.2820C=	XP_011523640.1:p.Ala940=
XM_011525332.3:c.3303C=	XP_011523634.1:p.Ala1101=
XM_011525333.3:c.3303C=	XP_011523635.1:p.Ala1101=
XM_011525334.2:c.3303C=	XP_011523636.1:p.Ala1101=
XM_011525335.3:c.3243C=	XP_011523637.1:p.Ala1081=
XM_011525336.2:c.3183C=	XP_011523638.1:p.Ala1061=
XM_011525337.2:c.3102C=	XP_011523639.1:p.Ala1034=
XM_011525338.2:c.2820C=	XP_011523640.1:p.Ala940=
XM_017025200.1:c.2760C=	XP_016880689.1:p.Ala920=
XM_017025201.1:c.2760C=	XP_016880690.1:p.Ala920=
XM_017025202.1:c.1389C=	XP_016880691.1:p.Ala463=
XM_017025203.1:c.1389C=	XP_016880692.1:p.Ala463=
NM_032043.3:c.3243C= MANE Select	NP_114432.2:p.Ala1081=