Canonical Allele Identifier: CA2269154962

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743054T= , CM000679.2:g.61743054T=	GRCh38
NC_000017.10:g.59820415T= , CM000679.1:g.59820415T=	GRCh37
NC_000017.9:g.57175197T=	NCBI36
NG_007409.2:g.125506A= , LRG_300:g.125506A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2338A=	ENSP00000463272.2:p.Ile780=
ENST00000682066.1:c.2468A=	ENSP00000507191.1:n.2468A=
ENST00000682073.1:n.1078A=
ENST00000682433.1:n.1417A=
ENST00000682453.1:c.2338A=	ENSP00000506943.1:p.Ile780=
ENST00000682477.1:c.*1764A=	ENSP00000507075.1:n.*1764A=
ENST00000682589.1:n.8215A=
ENST00000682755.1:c.2116A=	ENSP00000507660.1:p.Ile706=
ENST00000682989.1:c.2338A=	ENSP00000507786.1:p.Ile780=
ENST00000683039.1:c.2338A=	ENSP00000508303.1:p.Ile780=
ENST00000683235.1:c.2338A=	ENSP00000507646.1:p.Ile780=
ENST00000683381.1:c.2398A=	ENSP00000508184.1:p.Ile800=
ENST00000683535.1:n.468A=
ENST00000684471.1:n.751A=
ENST00000684584.1:c.1831A=	ENSP00000508044.1:p.Ile611=
ENST00000684769.1:c.403A=	ENSP00000507691.1:p.Ile135=
ENST00000259008.7:c.2338A= MANE Select	ENSP00000259008.2:p.Ile780=
ENST00000259008.6:c.2338A=	ENSP00000259008.2:p.Ile780=
ENST00000577598.5:c.2338A=	ENSP00000464654.1:p.Ile780=
ENST00000584322.1:c.321A=
NM_032043.2:c.2338A= , LRG_300t1:c.2338A=	NP_114432.2:p.Ile780=
XM_011525332.1:c.2398A=	XP_011523634.1:p.Ile800=
XM_011525333.1:c.2398A=	XP_011523635.1:p.Ile800=
XM_011525334.1:c.2398A=	XP_011523636.1:p.Ile800=
XM_011525335.1:c.2338A=	XP_011523637.1:p.Ile780=
XM_011525336.1:c.2278A=	XP_011523638.1:p.Ile760=
XM_011525337.1:c.2197A=	XP_011523639.1:p.Ile733=
XM_011525338.1:c.1915A=	XP_011523640.1:p.Ile639=
XM_011525339.1:c.2398A=	XP_011523641.1:p.Ile800=
XM_011525340.1:c.2398A=	XP_011523642.1:p.Ile800=
XR_934894.1:n.524-1127T=
XM_011525332.3:c.2398A=	XP_011523634.1:p.Ile800=
XM_011525333.3:c.2398A=	XP_011523635.1:p.Ile800=
XM_011525334.2:c.2398A=	XP_011523636.1:p.Ile800=
XM_011525335.3:c.2338A=	XP_011523637.1:p.Ile780=
XM_011525336.2:c.2278A=	XP_011523638.1:p.Ile760=
XM_011525337.2:c.2197A=	XP_011523639.1:p.Ile733=
XM_011525338.2:c.1915A=	XP_011523640.1:p.Ile639=
XM_011525339.3:c.2398A=	XP_011523641.1:p.Ile800=
XM_011525340.3:c.2398A=	XP_011523642.1:p.Ile800=
XM_017025200.1:c.1855A=	XP_016880689.1:p.Ile619=
XM_017025201.1:c.1855A=	XP_016880690.1:p.Ile619=
XM_017025202.1:c.484A=	XP_016880691.1:p.Ile162=
XM_017025203.1:c.484A=	XP_016880692.1:p.Ile162=
NM_032043.3:c.2338A= MANE Select	NP_114432.2:p.Ile780=