Canonical Allele Identifier: CA501335490

Gene: BRIP1

Linked Data

• dbSNP Id: rs776990704
• MyVariant Identifiers: chr17:g.59761356C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683995C>A , CM000679.2:g.61683995C>A	GRCh38
NC_000017.10:g.59761356C>A , CM000679.1:g.59761356C>A	GRCh37
NC_000017.9:g.57116138C>A	NCBI36
NG_007409.2:g.184565G>T , LRG_300:g.184565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1791G>T
ENST00000682453.1:c.3051G>T	ENSP00000506943.1:p.Pro1017=
ENST00000682477.1:c.*2477G>T	ENSP00000507075.1:n.*2477G>T
ENST00000682589.1:n.8928G>T
ENST00000682755.1:c.2829G>T	ENSP00000507660.1:p.Pro943=
ENST00000682989.1:c.*142G>T	ENSP00000507786.1:n.*142G>T
ENST00000683039.1:c.3051G>T	ENSP00000508303.1:p.Pro1017=
ENST00000683235.1:c.*466G>T	ENSP00000507646.1:n.*466G>T
ENST00000683535.1:n.1181G>T
ENST00000684584.1:c.2214G>T	ENSP00000508044.1:p.Pro738=
ENST00000684626.1:n.1297G>T
ENST00000684769.1:c.1241G>T	ENSP00000507691.1:n.1241G>T
ENST00000259008.7:c.3051G>T MANE Select	ENSP00000259008.2:p.Pro1017=
ENST00000259008.6:c.3051G>T	ENSP00000259008.2:p.Pro1017=
NM_032043.2:c.3051G>T , LRG_300t1:c.3051G>T	NP_114432.2:p.Pro1017=
XM_011525332.1:c.3111G>T	XP_011523634.1:p.Pro1037=
XM_011525333.1:c.3111G>T	XP_011523635.1:p.Pro1037=
XM_011525334.1:c.3111G>T	XP_011523636.1:p.Pro1037=
XM_011525335.1:c.3051G>T	XP_011523637.1:p.Pro1017=
XM_011525336.1:c.2991G>T	XP_011523638.1:p.Pro997=
XM_011525337.1:c.2910G>T	XP_011523639.1:p.Pro970=
XM_011525338.1:c.2628G>T	XP_011523640.1:p.Pro876=
XM_011525332.3:c.3111G>T	XP_011523634.1:p.Pro1037=
XM_011525333.3:c.3111G>T	XP_011523635.1:p.Pro1037=
XM_011525334.2:c.3111G>T	XP_011523636.1:p.Pro1037=
XM_011525335.3:c.3051G>T	XP_011523637.1:p.Pro1017=
XM_011525336.2:c.2991G>T	XP_011523638.1:p.Pro997=
XM_011525337.2:c.2910G>T	XP_011523639.1:p.Pro970=
XM_011525338.2:c.2628G>T	XP_011523640.1:p.Pro876=
XM_017025200.1:c.2568G>T	XP_016880689.1:p.Pro856=
XM_017025201.1:c.2568G>T	XP_016880690.1:p.Pro856=
XM_017025202.1:c.1197G>T	XP_016880691.1:p.Pro399=
XM_017025203.1:c.1197G>T	XP_016880692.1:p.Pro399=
NM_032043.3:c.3051G>T MANE Select	NP_114432.2:p.Pro1017=