Canonical Allele Identifier: CA501335204

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2021715
• ClinVar RCV Id: RCV002847231
• dbSNP Id: rs2144083106
• MyVariant Identifiers: chr17:g.59761161G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683800G>T , CM000679.2:g.61683800G>T	GRCh38
NC_000017.10:g.59761161G>T , CM000679.1:g.59761161G>T	GRCh37
NC_000017.9:g.57115943G>T	NCBI36
NG_007409.2:g.184760C>A , LRG_300:g.184760C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1986C>A
ENST00000682453.1:c.3246C>A	ENSP00000506943.1:p.Thr1082=
ENST00000682477.1:c.*2672C>A	ENSP00000507075.1:n.*2672C>A
ENST00000682589.1:n.9123C>A
ENST00000682755.1:c.3024C>A	ENSP00000507660.1:p.Thr1008=
ENST00000682989.1:c.*337C>A	ENSP00000507786.1:n.*337C>A
ENST00000683039.1:c.3246C>A	ENSP00000508303.1:p.Thr1082=
ENST00000683235.1:c.*661C>A	ENSP00000507646.1:n.*661C>A
ENST00000683535.1:n.1376C>A
ENST00000684584.1:c.2409C>A	ENSP00000508044.1:p.Thr803=
ENST00000684626.1:n.1492C>A
ENST00000684769.1:c.1436C>A	ENSP00000507691.1:n.1436C>A
ENST00000259008.7:c.3246C>A MANE Select	ENSP00000259008.2:p.Thr1082=
ENST00000259008.6:c.3246C>A	ENSP00000259008.2:p.Thr1082=
NM_032043.2:c.3246C>A , LRG_300t1:c.3246C>A	NP_114432.2:p.Thr1082=
XM_011525332.1:c.3306C>A	XP_011523634.1:p.Thr1102=
XM_011525333.1:c.3306C>A	XP_011523635.1:p.Thr1102=
XM_011525334.1:c.3306C>A	XP_011523636.1:p.Thr1102=
XM_011525335.1:c.3246C>A	XP_011523637.1:p.Thr1082=
XM_011525336.1:c.3186C>A	XP_011523638.1:p.Thr1062=
XM_011525337.1:c.3105C>A	XP_011523639.1:p.Thr1035=
XM_011525338.1:c.2823C>A	XP_011523640.1:p.Thr941=
XM_011525332.3:c.3306C>A	XP_011523634.1:p.Thr1102=
XM_011525333.3:c.3306C>A	XP_011523635.1:p.Thr1102=
XM_011525334.2:c.3306C>A	XP_011523636.1:p.Thr1102=
XM_011525335.3:c.3246C>A	XP_011523637.1:p.Thr1082=
XM_011525336.2:c.3186C>A	XP_011523638.1:p.Thr1062=
XM_011525337.2:c.3105C>A	XP_011523639.1:p.Thr1035=
XM_011525338.2:c.2823C>A	XP_011523640.1:p.Thr941=
XM_017025200.1:c.2763C>A	XP_016880689.1:p.Thr921=
XM_017025201.1:c.2763C>A	XP_016880690.1:p.Thr921=
XM_017025202.1:c.1392C>A	XP_016880691.1:p.Thr464=
XM_017025203.1:c.1392C>A	XP_016880692.1:p.Thr464=
NM_032043.3:c.3246C>A MANE Select	NP_114432.2:p.Thr1082=