Canonical Allele Identifier: CA400478348

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144072449
• MyVariant Identifiers: chr17:g.59760866A>T (hg19) ; chr17:g.61683505A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683505A>T , CM000679.2:g.61683505A>T	GRCh38
NC_000017.10:g.59760866A>T , CM000679.1:g.59760866A>T	GRCh37
NC_000017.9:g.57115648A>T	NCBI36
NG_007409.2:g.185055T>A , LRG_300:g.185055T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2281T>A
ENST00000682453.1:c.3541T>A	ENSP00000506943.1:p.Ser1181Thr
ENST00000682477.1:c.*2967T>A	ENSP00000507075.1:n.*2967T>A
ENST00000682589.1:n.9418T>A
ENST00000682755.1:c.3319T>A	ENSP00000507660.1:p.Ser1107Thr
ENST00000682989.1:c.*632T>A	ENSP00000507786.1:n.*632T>A
ENST00000683039.1:c.3541T>A	ENSP00000508303.1:p.Ser1181Thr
ENST00000683235.1:c.*956T>A	ENSP00000507646.1:n.*956T>A
ENST00000683535.1:n.1671T>A
ENST00000684584.1:c.2704T>A	ENSP00000508044.1:p.Ser902Thr
ENST00000684626.1:n.1787T>A
ENST00000684769.1:c.1731T>A	ENSP00000507691.1:n.1731T>A
ENST00000259008.7:c.3541T>A MANE Select	ENSP00000259008.2:p.Ser1181Thr
ENST00000259008.6:c.3541T>A	ENSP00000259008.2:p.Ser1181Thr
NM_032043.2:c.3541T>A , LRG_300t1:c.3541T>A	NP_114432.2:p.Ser1181Thr
XM_011525332.1:c.3601T>A	XP_011523634.1:p.Ser1201Thr
XM_011525333.1:c.3601T>A	XP_011523635.1:p.Ser1201Thr
XM_011525334.1:c.3601T>A	XP_011523636.1:p.Ser1201Thr
XM_011525335.1:c.3541T>A	XP_011523637.1:p.Ser1181Thr
XM_011525336.1:c.3481T>A	XP_011523638.1:p.Ser1161Thr
XM_011525337.1:c.3400T>A	XP_011523639.1:p.Ser1134Thr
XM_011525338.1:c.3118T>A	XP_011523640.1:p.Ser1040Thr
XM_011525332.3:c.3601T>A	XP_011523634.1:p.Ser1201Thr
XM_011525333.3:c.3601T>A	XP_011523635.1:p.Ser1201Thr
XM_011525334.2:c.3601T>A	XP_011523636.1:p.Ser1201Thr
XM_011525335.3:c.3541T>A	XP_011523637.1:p.Ser1181Thr
XM_011525336.2:c.3481T>A	XP_011523638.1:p.Ser1161Thr
XM_011525337.2:c.3400T>A	XP_011523639.1:p.Ser1134Thr
XM_011525338.2:c.3118T>A	XP_011523640.1:p.Ser1040Thr
XM_017025200.1:c.3058T>A	XP_016880689.1:p.Ser1020Thr
XM_017025201.1:c.3058T>A	XP_016880690.1:p.Ser1020Thr
XM_017025202.1:c.1687T>A	XP_016880691.1:p.Ser563Thr
XM_017025203.1:c.1687T>A	XP_016880692.1:p.Ser563Thr
NM_032043.3:c.3541T>A MANE Select	NP_114432.2:p.Ser1181Thr