Canonical Allele Identifier: CA2269130933

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683702G= , CM000679.2:g.61683702G=	GRCh38
NC_000017.10:g.59761063G= , CM000679.1:g.59761063G=	GRCh37
NC_000017.9:g.57115845G=	NCBI36
NG_007409.2:g.184858C= , LRG_300:g.184858C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2084C=
ENST00000682453.1:c.3344C=	ENSP00000506943.1:p.Ser1115=
ENST00000682477.1:c.*2770C=	ENSP00000507075.1:n.*2770C=
ENST00000682589.1:n.9221C=
ENST00000682755.1:c.3122C=	ENSP00000507660.1:p.Ser1041=
ENST00000682989.1:c.*435C=	ENSP00000507786.1:n.*435C=
ENST00000683039.1:c.3344C=	ENSP00000508303.1:p.Ser1115=
ENST00000683235.1:c.*759C=	ENSP00000507646.1:n.*759C=
ENST00000683535.1:n.1474C=
ENST00000684584.1:c.2507C=	ENSP00000508044.1:p.Ser836=
ENST00000684626.1:n.1590C=
ENST00000684769.1:c.1534C=	ENSP00000507691.1:n.1534C=
ENST00000259008.7:c.3344C= MANE Select	ENSP00000259008.2:p.Ser1115=
ENST00000259008.6:c.3344C=	ENSP00000259008.2:p.Ser1115=
NM_032043.2:c.3344C= , LRG_300t1:c.3344C=	NP_114432.2:p.Ser1115=
XM_011525332.1:c.3404C=	XP_011523634.1:p.Ser1135=
XM_011525333.1:c.3404C=	XP_011523635.1:p.Ser1135=
XM_011525334.1:c.3404C=	XP_011523636.1:p.Ser1135=
XM_011525335.1:c.3344C=	XP_011523637.1:p.Ser1115=
XM_011525336.1:c.3284C=	XP_011523638.1:p.Ser1095=
XM_011525337.1:c.3203C=	XP_011523639.1:p.Ser1068=
XM_011525338.1:c.2921C=	XP_011523640.1:p.Ser974=
XM_011525332.3:c.3404C=	XP_011523634.1:p.Ser1135=
XM_011525333.3:c.3404C=	XP_011523635.1:p.Ser1135=
XM_011525334.2:c.3404C=	XP_011523636.1:p.Ser1135=
XM_011525335.3:c.3344C=	XP_011523637.1:p.Ser1115=
XM_011525336.2:c.3284C=	XP_011523638.1:p.Ser1095=
XM_011525337.2:c.3203C=	XP_011523639.1:p.Ser1068=
XM_011525338.2:c.2921C=	XP_011523640.1:p.Ser974=
XM_017025200.1:c.2861C=	XP_016880689.1:p.Ser954=
XM_017025201.1:c.2861C=	XP_016880690.1:p.Ser954=
XM_017025202.1:c.1490C=	XP_016880691.1:p.Ser497=
XM_017025203.1:c.1490C=	XP_016880692.1:p.Ser497=
NM_032043.3:c.3344C= MANE Select	NP_114432.2:p.Ser1115=