Canonical Allele Identifier: CA400478844

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144078068
• MyVariant Identifiers: chr17:g.59761022A>T (hg19) ; chr17:g.61683661A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683661A>T , CM000679.2:g.61683661A>T	GRCh38
NC_000017.10:g.59761022A>T , CM000679.1:g.59761022A>T	GRCh37
NC_000017.9:g.57115804A>T	NCBI36
NG_007409.2:g.184899T>A , LRG_300:g.184899T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2125T>A
ENST00000682453.1:c.3385T>A	ENSP00000506943.1:p.Ser1129Thr
ENST00000682477.1:c.*2811T>A	ENSP00000507075.1:n.*2811T>A
ENST00000682589.1:n.9262T>A
ENST00000682755.1:c.3163T>A	ENSP00000507660.1:p.Ser1055Thr
ENST00000682989.1:c.*476T>A	ENSP00000507786.1:n.*476T>A
ENST00000683039.1:c.3385T>A	ENSP00000508303.1:p.Ser1129Thr
ENST00000683235.1:c.*800T>A	ENSP00000507646.1:n.*800T>A
ENST00000683535.1:n.1515T>A
ENST00000684584.1:c.2548T>A	ENSP00000508044.1:p.Ser850Thr
ENST00000684626.1:n.1631T>A
ENST00000684769.1:c.1575T>A	ENSP00000507691.1:n.1575T>A
ENST00000259008.7:c.3385T>A MANE Select	ENSP00000259008.2:p.Ser1129Thr
ENST00000259008.6:c.3385T>A	ENSP00000259008.2:p.Ser1129Thr
NM_032043.2:c.3385T>A , LRG_300t1:c.3385T>A	NP_114432.2:p.Ser1129Thr
XM_011525332.1:c.3445T>A	XP_011523634.1:p.Ser1149Thr
XM_011525333.1:c.3445T>A	XP_011523635.1:p.Ser1149Thr
XM_011525334.1:c.3445T>A	XP_011523636.1:p.Ser1149Thr
XM_011525335.1:c.3385T>A	XP_011523637.1:p.Ser1129Thr
XM_011525336.1:c.3325T>A	XP_011523638.1:p.Ser1109Thr
XM_011525337.1:c.3244T>A	XP_011523639.1:p.Ser1082Thr
XM_011525338.1:c.2962T>A	XP_011523640.1:p.Ser988Thr
XM_011525332.3:c.3445T>A	XP_011523634.1:p.Ser1149Thr
XM_011525333.3:c.3445T>A	XP_011523635.1:p.Ser1149Thr
XM_011525334.2:c.3445T>A	XP_011523636.1:p.Ser1149Thr
XM_011525335.3:c.3385T>A	XP_011523637.1:p.Ser1129Thr
XM_011525336.2:c.3325T>A	XP_011523638.1:p.Ser1109Thr
XM_011525337.2:c.3244T>A	XP_011523639.1:p.Ser1082Thr
XM_011525338.2:c.2962T>A	XP_011523640.1:p.Ser988Thr
XM_017025200.1:c.2902T>A	XP_016880689.1:p.Ser968Thr
XM_017025201.1:c.2902T>A	XP_016880690.1:p.Ser968Thr
XM_017025202.1:c.1531T>A	XP_016880691.1:p.Ser511Thr
XM_017025203.1:c.1531T>A	XP_016880692.1:p.Ser511Thr
NM_032043.3:c.3385T>A MANE Select	NP_114432.2:p.Ser1129Thr