Canonical Allele Identifier: CA400478925

Gene: BRIP1

Linked Data

• dbSNP Id: rs779860140
• MyVariant Identifiers: chr17:g.59761058A>T (hg19) ; chr17:g.61683697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683697A>T , CM000679.2:g.61683697A>T	GRCh38
NC_000017.10:g.59761058A>T , CM000679.1:g.59761058A>T	GRCh37
NC_000017.9:g.57115840A>T	NCBI36
NG_007409.2:g.184863T>A , LRG_300:g.184863T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2089T>A
ENST00000682453.1:c.3349T>A	ENSP00000506943.1:p.Ser1117Thr
ENST00000682477.1:c.*2775T>A	ENSP00000507075.1:n.*2775T>A
ENST00000682589.1:n.9226T>A
ENST00000682755.1:c.3127T>A	ENSP00000507660.1:p.Ser1043Thr
ENST00000682989.1:c.*440T>A	ENSP00000507786.1:n.*440T>A
ENST00000683039.1:c.3349T>A	ENSP00000508303.1:p.Ser1117Thr
ENST00000683235.1:c.*764T>A	ENSP00000507646.1:n.*764T>A
ENST00000683535.1:n.1479T>A
ENST00000684584.1:c.2512T>A	ENSP00000508044.1:p.Ser838Thr
ENST00000684626.1:n.1595T>A
ENST00000684769.1:c.1539T>A	ENSP00000507691.1:n.1539T>A
ENST00000259008.7:c.3349T>A MANE Select	ENSP00000259008.2:p.Ser1117Thr
ENST00000259008.6:c.3349T>A	ENSP00000259008.2:p.Ser1117Thr
NM_032043.2:c.3349T>A , LRG_300t1:c.3349T>A	NP_114432.2:p.Ser1117Thr
XM_011525332.1:c.3409T>A	XP_011523634.1:p.Ser1137Thr
XM_011525333.1:c.3409T>A	XP_011523635.1:p.Ser1137Thr
XM_011525334.1:c.3409T>A	XP_011523636.1:p.Ser1137Thr
XM_011525335.1:c.3349T>A	XP_011523637.1:p.Ser1117Thr
XM_011525336.1:c.3289T>A	XP_011523638.1:p.Ser1097Thr
XM_011525337.1:c.3208T>A	XP_011523639.1:p.Ser1070Thr
XM_011525338.1:c.2926T>A	XP_011523640.1:p.Ser976Thr
XM_011525332.3:c.3409T>A	XP_011523634.1:p.Ser1137Thr
XM_011525333.3:c.3409T>A	XP_011523635.1:p.Ser1137Thr
XM_011525334.2:c.3409T>A	XP_011523636.1:p.Ser1137Thr
XM_011525335.3:c.3349T>A	XP_011523637.1:p.Ser1117Thr
XM_011525336.2:c.3289T>A	XP_011523638.1:p.Ser1097Thr
XM_011525337.2:c.3208T>A	XP_011523639.1:p.Ser1070Thr
XM_011525338.2:c.2926T>A	XP_011523640.1:p.Ser976Thr
XM_017025200.1:c.2866T>A	XP_016880689.1:p.Ser956Thr
XM_017025201.1:c.2866T>A	XP_016880690.1:p.Ser956Thr
XM_017025202.1:c.1495T>A	XP_016880691.1:p.Ser499Thr
XM_017025203.1:c.1495T>A	XP_016880692.1:p.Ser499Thr
NM_032043.3:c.3349T>A MANE Select	NP_114432.2:p.Ser1117Thr