Canonical Allele Identifier: CA400479477

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1728345
• ClinVar RCV Id: RCV002322548 ; RCV003775060
• dbSNP Id: rs2144085995
• gnomAD v4: 17-61683882-G-T
• MyVariant Identifiers: chr17:g.59761243G>T (hg19) ; chr17:g.61683882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683882G>T , CM000679.2:g.61683882G>T	GRCh38
NC_000017.10:g.59761243G>T , CM000679.1:g.59761243G>T	GRCh37
NC_000017.9:g.57116025G>T	NCBI36
NG_007409.2:g.184678C>A , LRG_300:g.184678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1904C>A
ENST00000682453.1:c.3164C>A	ENSP00000506943.1:p.Ser1055Tyr
ENST00000682477.1:c.*2590C>A	ENSP00000507075.1:n.*2590C>A
ENST00000682589.1:n.9041C>A
ENST00000682755.1:c.2942C>A	ENSP00000507660.1:p.Ser981Tyr
ENST00000682989.1:c.*255C>A	ENSP00000507786.1:n.*255C>A
ENST00000683039.1:c.3164C>A	ENSP00000508303.1:p.Ser1055Tyr
ENST00000683235.1:c.*579C>A	ENSP00000507646.1:n.*579C>A
ENST00000683535.1:n.1294C>A
ENST00000684584.1:c.2327C>A	ENSP00000508044.1:p.Ser776Tyr
ENST00000684626.1:n.1410C>A
ENST00000684769.1:c.1354C>A	ENSP00000507691.1:n.1354C>A
ENST00000259008.7:c.3164C>A MANE Select	ENSP00000259008.2:p.Ser1055Tyr
ENST00000259008.6:c.3164C>A	ENSP00000259008.2:p.Ser1055Tyr
NM_032043.2:c.3164C>A , LRG_300t1:c.3164C>A	NP_114432.2:p.Ser1055Tyr
XM_011525332.1:c.3224C>A	XP_011523634.1:p.Ser1075Tyr
XM_011525333.1:c.3224C>A	XP_011523635.1:p.Ser1075Tyr
XM_011525334.1:c.3224C>A	XP_011523636.1:p.Ser1075Tyr
XM_011525335.1:c.3164C>A	XP_011523637.1:p.Ser1055Tyr
XM_011525336.1:c.3104C>A	XP_011523638.1:p.Ser1035Tyr
XM_011525337.1:c.3023C>A	XP_011523639.1:p.Ser1008Tyr
XM_011525338.1:c.2741C>A	XP_011523640.1:p.Ser914Tyr
XM_011525332.3:c.3224C>A	XP_011523634.1:p.Ser1075Tyr
XM_011525333.3:c.3224C>A	XP_011523635.1:p.Ser1075Tyr
XM_011525334.2:c.3224C>A	XP_011523636.1:p.Ser1075Tyr
XM_011525335.3:c.3164C>A	XP_011523637.1:p.Ser1055Tyr
XM_011525336.2:c.3104C>A	XP_011523638.1:p.Ser1035Tyr
XM_011525337.2:c.3023C>A	XP_011523639.1:p.Ser1008Tyr
XM_011525338.2:c.2741C>A	XP_011523640.1:p.Ser914Tyr
XM_017025200.1:c.2681C>A	XP_016880689.1:p.Ser894Tyr
XM_017025201.1:c.2681C>A	XP_016880690.1:p.Ser894Tyr
XM_017025202.1:c.1310C>A	XP_016880691.1:p.Ser437Tyr
XM_017025203.1:c.1310C>A	XP_016880692.1:p.Ser437Tyr
NM_032043.3:c.3164C>A MANE Select	NP_114432.2:p.Ser1055Tyr