Canonical Allele Identifier: CA16615485

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 407856
• ClinVar RCV Id: RCV000459986 ; RCV000481412 ; RCV002323711 ; RCV003463899
• dbSNP Id: rs777213170
• COSMIC: COSM5575424 ; COSM5575425
• MyVariant Identifiers: chr17:g.59761198G>T (hg19) ; chr17:g.61683837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683837G>T , CM000679.2:g.61683837G>T	GRCh38
NC_000017.10:g.59761198G>T , CM000679.1:g.59761198G>T	GRCh37
NC_000017.9:g.57115980G>T	NCBI36
NG_007409.2:g.184723C>A , LRG_300:g.184723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1949C>A
ENST00000682453.1:c.3209C>A	ENSP00000506943.1:p.Ser1070Ter
ENST00000682477.1:c.*2635C>A	ENSP00000507075.1:n.*2635C>A
ENST00000682589.1:n.9086C>A
ENST00000682755.1:c.2987C>A	ENSP00000507660.1:p.Ser996Ter
ENST00000682989.1:c.*300C>A	ENSP00000507786.1:n.*300C>A
ENST00000683039.1:c.3209C>A	ENSP00000508303.1:p.Ser1070Ter
ENST00000683235.1:c.*624C>A	ENSP00000507646.1:n.*624C>A
ENST00000683535.1:n.1339C>A
ENST00000684584.1:c.2372C>A	ENSP00000508044.1:p.Ser791Ter
ENST00000684626.1:n.1455C>A
ENST00000684769.1:c.1399C>A	ENSP00000507691.1:n.1399C>A
ENST00000259008.7:c.3209C>A MANE Select	ENSP00000259008.2:p.Ser1070Ter
ENST00000259008.6:c.3209C>A	ENSP00000259008.2:p.Ser1070Ter
NM_032043.2:c.3209C>A , LRG_300t1:c.3209C>A	NP_114432.2:p.Ser1070Ter
XM_011525332.1:c.3269C>A	XP_011523634.1:p.Ser1090Ter
XM_011525333.1:c.3269C>A	XP_011523635.1:p.Ser1090Ter
XM_011525334.1:c.3269C>A	XP_011523636.1:p.Ser1090Ter
XM_011525335.1:c.3209C>A	XP_011523637.1:p.Ser1070Ter
XM_011525336.1:c.3149C>A	XP_011523638.1:p.Ser1050Ter
XM_011525337.1:c.3068C>A	XP_011523639.1:p.Ser1023Ter
XM_011525338.1:c.2786C>A	XP_011523640.1:p.Ser929Ter
XM_011525332.3:c.3269C>A	XP_011523634.1:p.Ser1090Ter
XM_011525333.3:c.3269C>A	XP_011523635.1:p.Ser1090Ter
XM_011525334.2:c.3269C>A	XP_011523636.1:p.Ser1090Ter
XM_011525335.3:c.3209C>A	XP_011523637.1:p.Ser1070Ter
XM_011525336.2:c.3149C>A	XP_011523638.1:p.Ser1050Ter
XM_011525337.2:c.3068C>A	XP_011523639.1:p.Ser1023Ter
XM_011525338.2:c.2786C>A	XP_011523640.1:p.Ser929Ter
XM_017025200.1:c.2726C>A	XP_016880689.1:p.Ser909Ter
XM_017025201.1:c.2726C>A	XP_016880690.1:p.Ser909Ter
XM_017025202.1:c.1355C>A	XP_016880691.1:p.Ser452Ter
XM_017025203.1:c.1355C>A	XP_016880692.1:p.Ser452Ter
NM_032043.3:c.3209C>A MANE Select	NP_114432.2:p.Ser1070Ter