Canonical Allele Identifier: CA400478223

Gene: BRIP1

Linked Data

• dbSNP Id: rs2061301683
• gnomAD v4: 17-61683477-C-T
• MyVariant Identifiers: chr17:g.59760838C>T (hg19) ; chr17:g.61683477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683477C>T , CM000679.2:g.61683477C>T	GRCh38
NC_000017.10:g.59760838C>T , CM000679.1:g.59760838C>T	GRCh37
NC_000017.9:g.57115620C>T	NCBI36
NG_007409.2:g.185083G>A , LRG_300:g.185083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2309G>A
ENST00000682453.1:c.3569G>A	ENSP00000506943.1:p.Cys1190Tyr
ENST00000682477.1:c.*2995G>A	ENSP00000507075.1:n.*2995G>A
ENST00000682589.1:n.9446G>A
ENST00000682755.1:c.3347G>A	ENSP00000507660.1:p.Cys1116Tyr
ENST00000682989.1:c.*660G>A	ENSP00000507786.1:n.*660G>A
ENST00000683039.1:c.3569G>A	ENSP00000508303.1:p.Cys1190Tyr
ENST00000683235.1:c.*984G>A	ENSP00000507646.1:n.*984G>A
ENST00000683535.1:n.1699G>A
ENST00000684584.1:c.2732G>A	ENSP00000508044.1:p.Cys911Tyr
ENST00000684626.1:n.1815G>A
ENST00000684769.1:c.1759G>A	ENSP00000507691.1:n.1759G>A
ENST00000259008.7:c.3569G>A MANE Select	ENSP00000259008.2:p.Cys1190Tyr
ENST00000259008.6:c.3569G>A	ENSP00000259008.2:p.Cys1190Tyr
NM_032043.2:c.3569G>A , LRG_300t1:c.3569G>A	NP_114432.2:p.Cys1190Tyr
XM_011525332.1:c.3629G>A	XP_011523634.1:p.Cys1210Tyr
XM_011525333.1:c.3629G>A	XP_011523635.1:p.Cys1210Tyr
XM_011525334.1:c.3629G>A	XP_011523636.1:p.Cys1210Tyr
XM_011525335.1:c.3569G>A	XP_011523637.1:p.Cys1190Tyr
XM_011525336.1:c.3509G>A	XP_011523638.1:p.Cys1170Tyr
XM_011525337.1:c.3428G>A	XP_011523639.1:p.Cys1143Tyr
XM_011525338.1:c.3146G>A	XP_011523640.1:p.Cys1049Tyr
XM_011525332.3:c.3629G>A	XP_011523634.1:p.Cys1210Tyr
XM_011525333.3:c.3629G>A	XP_011523635.1:p.Cys1210Tyr
XM_011525334.2:c.3629G>A	XP_011523636.1:p.Cys1210Tyr
XM_011525335.3:c.3569G>A	XP_011523637.1:p.Cys1190Tyr
XM_011525336.2:c.3509G>A	XP_011523638.1:p.Cys1170Tyr
XM_011525337.2:c.3428G>A	XP_011523639.1:p.Cys1143Tyr
XM_011525338.2:c.3146G>A	XP_011523640.1:p.Cys1049Tyr
XM_017025200.1:c.3086G>A	XP_016880689.1:p.Cys1029Tyr
XM_017025201.1:c.3086G>A	XP_016880690.1:p.Cys1029Tyr
XM_017025202.1:c.1715G>A	XP_016880691.1:p.Cys572Tyr
XM_017025203.1:c.1715G>A	XP_016880692.1:p.Cys572Tyr
NM_032043.3:c.3569G>A MANE Select	NP_114432.2:p.Cys1190Tyr