Canonical Allele Identifier: CA2269130990

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683781A= , CM000679.2:g.61683781A=	GRCh38
NC_000017.10:g.59761142A= , CM000679.1:g.59761142A=	GRCh37
NC_000017.9:g.57115924A=	NCBI36
NG_007409.2:g.184779T= , LRG_300:g.184779T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2005T=
ENST00000682453.1:c.3265T=	ENSP00000506943.1:p.Ser1089=
ENST00000682477.1:c.*2691T=	ENSP00000507075.1:n.*2691T=
ENST00000682589.1:n.9142T=
ENST00000682755.1:c.3043T=	ENSP00000507660.1:p.Ser1015=
ENST00000682989.1:c.*356T=	ENSP00000507786.1:n.*356T=
ENST00000683039.1:c.3265T=	ENSP00000508303.1:p.Ser1089=
ENST00000683235.1:c.*680T=	ENSP00000507646.1:n.*680T=
ENST00000683535.1:n.1395T=
ENST00000684584.1:c.2428T=	ENSP00000508044.1:p.Ser810=
ENST00000684626.1:n.1511T=
ENST00000684769.1:c.1455T=	ENSP00000507691.1:n.1455T=
ENST00000259008.7:c.3265T= MANE Select	ENSP00000259008.2:p.Ser1089=
ENST00000259008.6:c.3265T=	ENSP00000259008.2:p.Ser1089=
NM_032043.2:c.3265T= , LRG_300t1:c.3265T=	NP_114432.2:p.Ser1089=
XM_011525332.1:c.3325T=	XP_011523634.1:p.Ser1109=
XM_011525333.1:c.3325T=	XP_011523635.1:p.Ser1109=
XM_011525334.1:c.3325T=	XP_011523636.1:p.Ser1109=
XM_011525335.1:c.3265T=	XP_011523637.1:p.Ser1089=
XM_011525336.1:c.3205T=	XP_011523638.1:p.Ser1069=
XM_011525337.1:c.3124T=	XP_011523639.1:p.Ser1042=
XM_011525338.1:c.2842T=	XP_011523640.1:p.Ser948=
XM_011525332.3:c.3325T=	XP_011523634.1:p.Ser1109=
XM_011525333.3:c.3325T=	XP_011523635.1:p.Ser1109=
XM_011525334.2:c.3325T=	XP_011523636.1:p.Ser1109=
XM_011525335.3:c.3265T=	XP_011523637.1:p.Ser1089=
XM_011525336.2:c.3205T=	XP_011523638.1:p.Ser1069=
XM_011525337.2:c.3124T=	XP_011523639.1:p.Ser1042=
XM_011525338.2:c.2842T=	XP_011523640.1:p.Ser948=
XM_017025200.1:c.2782T=	XP_016880689.1:p.Ser928=
XM_017025201.1:c.2782T=	XP_016880690.1:p.Ser928=
XM_017025202.1:c.1411T=	XP_016880691.1:p.Ser471=
XM_017025203.1:c.1411T=	XP_016880692.1:p.Ser471=
NM_032043.3:c.3265T= MANE Select	NP_114432.2:p.Ser1089=