Canonical Allele Identifier: CA400479343

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1728815
• ClinVar RCV Id: RCV002322981
• dbSNP Id: rs2144084686
• MyVariant Identifiers: chr17:g.59761207C>T (hg19) ; chr17:g.61683846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683846C>T , CM000679.2:g.61683846C>T	GRCh38
NC_000017.10:g.59761207C>T , CM000679.1:g.59761207C>T	GRCh37
NC_000017.9:g.57115989C>T	NCBI36
NG_007409.2:g.184714G>A , LRG_300:g.184714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1940G>A
ENST00000682453.1:c.3200G>A	ENSP00000506943.1:p.Cys1067Tyr
ENST00000682477.1:c.*2626G>A	ENSP00000507075.1:n.*2626G>A
ENST00000682589.1:n.9077G>A
ENST00000682755.1:c.2978G>A	ENSP00000507660.1:p.Cys993Tyr
ENST00000682989.1:c.*291G>A	ENSP00000507786.1:n.*291G>A
ENST00000683039.1:c.3200G>A	ENSP00000508303.1:p.Cys1067Tyr
ENST00000683235.1:c.*615G>A	ENSP00000507646.1:n.*615G>A
ENST00000683535.1:n.1330G>A
ENST00000684584.1:c.2363G>A	ENSP00000508044.1:p.Cys788Tyr
ENST00000684626.1:n.1446G>A
ENST00000684769.1:c.1390G>A	ENSP00000507691.1:n.1390G>A
ENST00000259008.7:c.3200G>A MANE Select	ENSP00000259008.2:p.Cys1067Tyr
ENST00000259008.6:c.3200G>A	ENSP00000259008.2:p.Cys1067Tyr
NM_032043.2:c.3200G>A , LRG_300t1:c.3200G>A	NP_114432.2:p.Cys1067Tyr
XM_011525332.1:c.3260G>A	XP_011523634.1:p.Cys1087Tyr
XM_011525333.1:c.3260G>A	XP_011523635.1:p.Cys1087Tyr
XM_011525334.1:c.3260G>A	XP_011523636.1:p.Cys1087Tyr
XM_011525335.1:c.3200G>A	XP_011523637.1:p.Cys1067Tyr
XM_011525336.1:c.3140G>A	XP_011523638.1:p.Cys1047Tyr
XM_011525337.1:c.3059G>A	XP_011523639.1:p.Cys1020Tyr
XM_011525338.1:c.2777G>A	XP_011523640.1:p.Cys926Tyr
XM_011525332.3:c.3260G>A	XP_011523634.1:p.Cys1087Tyr
XM_011525333.3:c.3260G>A	XP_011523635.1:p.Cys1087Tyr
XM_011525334.2:c.3260G>A	XP_011523636.1:p.Cys1087Tyr
XM_011525335.3:c.3200G>A	XP_011523637.1:p.Cys1067Tyr
XM_011525336.2:c.3140G>A	XP_011523638.1:p.Cys1047Tyr
XM_011525337.2:c.3059G>A	XP_011523639.1:p.Cys1020Tyr
XM_011525338.2:c.2777G>A	XP_011523640.1:p.Cys926Tyr
XM_017025200.1:c.2717G>A	XP_016880689.1:p.Cys906Tyr
XM_017025201.1:c.2717G>A	XP_016880690.1:p.Cys906Tyr
XM_017025202.1:c.1346G>A	XP_016880691.1:p.Cys449Tyr
XM_017025203.1:c.1346G>A	XP_016880692.1:p.Cys449Tyr
NM_032043.3:c.3200G>A MANE Select	NP_114432.2:p.Cys1067Tyr