Canonical Allele Identifier: CA2269154974

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743069T= , CM000679.2:g.61743069T=	GRCh38
NC_000017.10:g.59820430T= , CM000679.1:g.59820430T=	GRCh37
NC_000017.9:g.57175212T=	NCBI36
NG_007409.2:g.125491A= , LRG_300:g.125491A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2323A=	ENSP00000463272.2:p.Asn775=
ENST00000682066.1:c.2453A=	ENSP00000507191.1:n.2453A=
ENST00000682073.1:n.1063A=
ENST00000682433.1:n.1402A=
ENST00000682453.1:c.2323A=	ENSP00000506943.1:p.Asn775=
ENST00000682477.1:c.*1749A=	ENSP00000507075.1:n.*1749A=
ENST00000682589.1:n.8200A=
ENST00000682755.1:c.2101A=	ENSP00000507660.1:p.Asn701=
ENST00000682989.1:c.2323A=	ENSP00000507786.1:p.Asn775=
ENST00000683039.1:c.2323A=	ENSP00000508303.1:p.Asn775=
ENST00000683235.1:c.2323A=	ENSP00000507646.1:p.Asn775=
ENST00000683381.1:c.2383A=	ENSP00000508184.1:p.Asn795=
ENST00000683535.1:n.453A=
ENST00000684471.1:n.736A=
ENST00000684584.1:c.1816A=	ENSP00000508044.1:p.Asn606=
ENST00000684769.1:c.388A=	ENSP00000507691.1:p.Asn130=
ENST00000259008.7:c.2323A= MANE Select	ENSP00000259008.2:p.Asn775=
ENST00000259008.6:c.2323A=	ENSP00000259008.2:p.Asn775=
ENST00000577598.5:c.2323A=	ENSP00000464654.1:p.Asn775=
ENST00000584322.1:c.306A=
NM_032043.2:c.2323A= , LRG_300t1:c.2323A=	NP_114432.2:p.Asn775=
XM_011525332.1:c.2383A=	XP_011523634.1:p.Asn795=
XM_011525333.1:c.2383A=	XP_011523635.1:p.Asn795=
XM_011525334.1:c.2383A=	XP_011523636.1:p.Asn795=
XM_011525335.1:c.2323A=	XP_011523637.1:p.Asn775=
XM_011525336.1:c.2263A=	XP_011523638.1:p.Asn755=
XM_011525337.1:c.2182A=	XP_011523639.1:p.Asn728=
XM_011525338.1:c.1900A=	XP_011523640.1:p.Asn634=
XM_011525339.1:c.2383A=	XP_011523641.1:p.Asn795=
XM_011525340.1:c.2383A=	XP_011523642.1:p.Asn795=
XR_934894.1:n.524-1112T=
XM_011525332.3:c.2383A=	XP_011523634.1:p.Asn795=
XM_011525333.3:c.2383A=	XP_011523635.1:p.Asn795=
XM_011525334.2:c.2383A=	XP_011523636.1:p.Asn795=
XM_011525335.3:c.2323A=	XP_011523637.1:p.Asn775=
XM_011525336.2:c.2263A=	XP_011523638.1:p.Asn755=
XM_011525337.2:c.2182A=	XP_011523639.1:p.Asn728=
XM_011525338.2:c.1900A=	XP_011523640.1:p.Asn634=
XM_011525339.3:c.2383A=	XP_011523641.1:p.Asn795=
XM_011525340.3:c.2383A=	XP_011523642.1:p.Asn795=
XM_017025200.1:c.1840A=	XP_016880689.1:p.Asn614=
XM_017025201.1:c.1840A=	XP_016880690.1:p.Asn614=
XM_017025202.1:c.469A=	XP_016880691.1:p.Asn157=
XM_017025203.1:c.469A=	XP_016880692.1:p.Asn157=
NM_032043.3:c.2323A= MANE Select	NP_114432.2:p.Asn775=