Canonical Allele Identifier: CA2269130954

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683731C= , CM000679.2:g.61683731C=	GRCh38
NC_000017.10:g.59761092C= , CM000679.1:g.59761092C=	GRCh37
NC_000017.9:g.57115874C=	NCBI36
NG_007409.2:g.184829G= , LRG_300:g.184829G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2055G=
ENST00000682453.1:c.3315G=	ENSP00000506943.1:p.Leu1105=
ENST00000682477.1:c.*2741G=	ENSP00000507075.1:n.*2741G=
ENST00000682589.1:n.9192G=
ENST00000682755.1:c.3093G=	ENSP00000507660.1:p.Leu1031=
ENST00000682989.1:c.*406G=	ENSP00000507786.1:n.*406G=
ENST00000683039.1:c.3315G=	ENSP00000508303.1:p.Leu1105=
ENST00000683235.1:c.*730G=	ENSP00000507646.1:n.*730G=
ENST00000683535.1:n.1445G=
ENST00000684584.1:c.2478G=	ENSP00000508044.1:p.Leu826=
ENST00000684626.1:n.1561G=
ENST00000684769.1:c.1505G=	ENSP00000507691.1:n.1505G=
ENST00000259008.7:c.3315G= MANE Select	ENSP00000259008.2:p.Leu1105=
ENST00000259008.6:c.3315G=	ENSP00000259008.2:p.Leu1105=
NM_032043.2:c.3315G= , LRG_300t1:c.3315G=	NP_114432.2:p.Leu1105=
XM_011525332.1:c.3375G=	XP_011523634.1:p.Leu1125=
XM_011525333.1:c.3375G=	XP_011523635.1:p.Leu1125=
XM_011525334.1:c.3375G=	XP_011523636.1:p.Leu1125=
XM_011525335.1:c.3315G=	XP_011523637.1:p.Leu1105=
XM_011525336.1:c.3255G=	XP_011523638.1:p.Leu1085=
XM_011525337.1:c.3174G=	XP_011523639.1:p.Leu1058=
XM_011525338.1:c.2892G=	XP_011523640.1:p.Leu964=
XM_011525332.3:c.3375G=	XP_011523634.1:p.Leu1125=
XM_011525333.3:c.3375G=	XP_011523635.1:p.Leu1125=
XM_011525334.2:c.3375G=	XP_011523636.1:p.Leu1125=
XM_011525335.3:c.3315G=	XP_011523637.1:p.Leu1105=
XM_011525336.2:c.3255G=	XP_011523638.1:p.Leu1085=
XM_011525337.2:c.3174G=	XP_011523639.1:p.Leu1058=
XM_011525338.2:c.2892G=	XP_011523640.1:p.Leu964=
XM_017025200.1:c.2832G=	XP_016880689.1:p.Leu944=
XM_017025201.1:c.2832G=	XP_016880690.1:p.Leu944=
XM_017025202.1:c.1461G=	XP_016880691.1:p.Leu487=
XM_017025203.1:c.1461G=	XP_016880692.1:p.Leu487=
NM_032043.3:c.3315G= MANE Select	NP_114432.2:p.Leu1105=