Canonical Allele Identifier: CA2269130830

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683517T= , CM000679.2:g.61683517T=	GRCh38
NC_000017.10:g.59760878T= , CM000679.1:g.59760878T=	GRCh37
NC_000017.9:g.57115660T=	NCBI36
NG_007409.2:g.185043A= , LRG_300:g.185043A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2269A=
ENST00000682453.1:c.3529A=	ENSP00000506943.1:p.Lys1177=
ENST00000682477.1:c.*2955A=	ENSP00000507075.1:n.*2955A=
ENST00000682589.1:n.9406A=
ENST00000682755.1:c.3307A=	ENSP00000507660.1:p.Lys1103=
ENST00000682989.1:c.*620A=	ENSP00000507786.1:n.*620A=
ENST00000683039.1:c.3529A=	ENSP00000508303.1:p.Lys1177=
ENST00000683235.1:c.*944A=	ENSP00000507646.1:n.*944A=
ENST00000683535.1:n.1659A=
ENST00000684584.1:c.2692A=	ENSP00000508044.1:p.Lys898=
ENST00000684626.1:n.1775A=
ENST00000684769.1:c.1719A=	ENSP00000507691.1:n.1719A=
ENST00000259008.7:c.3529A= MANE Select	ENSP00000259008.2:p.Lys1177=
ENST00000259008.6:c.3529A=	ENSP00000259008.2:p.Lys1177=
NM_032043.2:c.3529A= , LRG_300t1:c.3529A=	NP_114432.2:p.Lys1177=
XM_011525332.1:c.3589A=	XP_011523634.1:p.Lys1197=
XM_011525333.1:c.3589A=	XP_011523635.1:p.Lys1197=
XM_011525334.1:c.3589A=	XP_011523636.1:p.Lys1197=
XM_011525335.1:c.3529A=	XP_011523637.1:p.Lys1177=
XM_011525336.1:c.3469A=	XP_011523638.1:p.Lys1157=
XM_011525337.1:c.3388A=	XP_011523639.1:p.Lys1130=
XM_011525338.1:c.3106A=	XP_011523640.1:p.Lys1036=
XM_011525332.3:c.3589A=	XP_011523634.1:p.Lys1197=
XM_011525333.3:c.3589A=	XP_011523635.1:p.Lys1197=
XM_011525334.2:c.3589A=	XP_011523636.1:p.Lys1197=
XM_011525335.3:c.3529A=	XP_011523637.1:p.Lys1177=
XM_011525336.2:c.3469A=	XP_011523638.1:p.Lys1157=
XM_011525337.2:c.3388A=	XP_011523639.1:p.Lys1130=
XM_011525338.2:c.3106A=	XP_011523640.1:p.Lys1036=
XM_017025200.1:c.3046A=	XP_016880689.1:p.Lys1016=
XM_017025201.1:c.3046A=	XP_016880690.1:p.Lys1016=
XM_017025202.1:c.1675A=	XP_016880691.1:p.Lys559=
XM_017025203.1:c.1675A=	XP_016880692.1:p.Lys559=
NM_032043.3:c.3529A= MANE Select	NP_114432.2:p.Lys1177=