Canonical Allele Identifier: CA501335342

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1728193
• ClinVar RCV Id: RCV002320825
• dbSNP Id: rs1603275447
• MyVariant Identifiers: chr17:g.59761257A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683896A>T , CM000679.2:g.61683896A>T	GRCh38
NC_000017.10:g.59761257A>T , CM000679.1:g.59761257A>T	GRCh37
NC_000017.9:g.57116039A>T	NCBI36
NG_007409.2:g.184664T>A , LRG_300:g.184664T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1890T>A
ENST00000682453.1:c.3150T>A	ENSP00000506943.1:p.Thr1050=
ENST00000682477.1:c.*2576T>A	ENSP00000507075.1:n.*2576T>A
ENST00000682589.1:n.9027T>A
ENST00000682755.1:c.2928T>A	ENSP00000507660.1:p.Thr976=
ENST00000682989.1:c.*241T>A	ENSP00000507786.1:n.*241T>A
ENST00000683039.1:c.3150T>A	ENSP00000508303.1:p.Thr1050=
ENST00000683235.1:c.*565T>A	ENSP00000507646.1:n.*565T>A
ENST00000683535.1:n.1280T>A
ENST00000684584.1:c.2313T>A	ENSP00000508044.1:p.Thr771=
ENST00000684626.1:n.1396T>A
ENST00000684769.1:c.1340T>A	ENSP00000507691.1:n.1340T>A
ENST00000259008.7:c.3150T>A MANE Select	ENSP00000259008.2:p.Thr1050=
ENST00000259008.6:c.3150T>A	ENSP00000259008.2:p.Thr1050=
NM_032043.2:c.3150T>A , LRG_300t1:c.3150T>A	NP_114432.2:p.Thr1050=
XM_011525332.1:c.3210T>A	XP_011523634.1:p.Thr1070=
XM_011525333.1:c.3210T>A	XP_011523635.1:p.Thr1070=
XM_011525334.1:c.3210T>A	XP_011523636.1:p.Thr1070=
XM_011525335.1:c.3150T>A	XP_011523637.1:p.Thr1050=
XM_011525336.1:c.3090T>A	XP_011523638.1:p.Thr1030=
XM_011525337.1:c.3009T>A	XP_011523639.1:p.Thr1003=
XM_011525338.1:c.2727T>A	XP_011523640.1:p.Thr909=
XM_011525332.3:c.3210T>A	XP_011523634.1:p.Thr1070=
XM_011525333.3:c.3210T>A	XP_011523635.1:p.Thr1070=
XM_011525334.2:c.3210T>A	XP_011523636.1:p.Thr1070=
XM_011525335.3:c.3150T>A	XP_011523637.1:p.Thr1050=
XM_011525336.2:c.3090T>A	XP_011523638.1:p.Thr1030=
XM_011525337.2:c.3009T>A	XP_011523639.1:p.Thr1003=
XM_011525338.2:c.2727T>A	XP_011523640.1:p.Thr909=
XM_017025200.1:c.2667T>A	XP_016880689.1:p.Thr889=
XM_017025201.1:c.2667T>A	XP_016880690.1:p.Thr889=
XM_017025202.1:c.1296T>A	XP_016880691.1:p.Thr432=
XM_017025203.1:c.1296T>A	XP_016880692.1:p.Thr432=
NM_032043.3:c.3150T>A MANE Select	NP_114432.2:p.Thr1050=