Canonical Allele Identifier: CA8690374

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 414689
• ClinVar RCV Id: RCV000477481 ; RCV000775406
• dbSNP Id: rs774105218
• ExAC: 17:59761122 A / G
• gnomAD v2: 17-59761122-A-G
• MyVariant Identifiers: chr17:g.59761122A>G (hg19) ; chr17:g.61683761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683761A>G , CM000679.2:g.61683761A>G	GRCh38
NC_000017.10:g.59761122A>G , CM000679.1:g.59761122A>G	GRCh37
NC_000017.9:g.57115904A>G	NCBI36
NG_007409.2:g.184799T>C , LRG_300:g.184799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2025T>C
ENST00000682453.1:c.3285T>C	ENSP00000506943.1:p.Ser1095=
ENST00000682477.1:c.*2711T>C	ENSP00000507075.1:n.*2711T>C
ENST00000682589.1:n.9162T>C
ENST00000682755.1:c.3063T>C	ENSP00000507660.1:p.Ser1021=
ENST00000682989.1:c.*376T>C	ENSP00000507786.1:n.*376T>C
ENST00000683039.1:c.3285T>C	ENSP00000508303.1:p.Ser1095=
ENST00000683235.1:c.*700T>C	ENSP00000507646.1:n.*700T>C
ENST00000683535.1:n.1415T>C
ENST00000684584.1:c.2448T>C	ENSP00000508044.1:p.Ser816=
ENST00000684626.1:n.1531T>C
ENST00000684769.1:c.1475T>C	ENSP00000507691.1:n.1475T>C
ENST00000259008.7:c.3285T>C MANE Select	ENSP00000259008.2:p.Ser1095=
ENST00000259008.6:c.3285T>C	ENSP00000259008.2:p.Ser1095=
NM_032043.2:c.3285T>C , LRG_300t1:c.3285T>C	NP_114432.2:p.Ser1095=
XM_011525332.1:c.3345T>C	XP_011523634.1:p.Ser1115=
XM_011525333.1:c.3345T>C	XP_011523635.1:p.Ser1115=
XM_011525334.1:c.3345T>C	XP_011523636.1:p.Ser1115=
XM_011525335.1:c.3285T>C	XP_011523637.1:p.Ser1095=
XM_011525336.1:c.3225T>C	XP_011523638.1:p.Ser1075=
XM_011525337.1:c.3144T>C	XP_011523639.1:p.Ser1048=
XM_011525338.1:c.2862T>C	XP_011523640.1:p.Ser954=
XM_011525332.3:c.3345T>C	XP_011523634.1:p.Ser1115=
XM_011525333.3:c.3345T>C	XP_011523635.1:p.Ser1115=
XM_011525334.2:c.3345T>C	XP_011523636.1:p.Ser1115=
XM_011525335.3:c.3285T>C	XP_011523637.1:p.Ser1095=
XM_011525336.2:c.3225T>C	XP_011523638.1:p.Ser1075=
XM_011525337.2:c.3144T>C	XP_011523639.1:p.Ser1048=
XM_011525338.2:c.2862T>C	XP_011523640.1:p.Ser954=
XM_017025200.1:c.2802T>C	XP_016880689.1:p.Ser934=
XM_017025201.1:c.2802T>C	XP_016880690.1:p.Ser934=
XM_017025202.1:c.1431T>C	XP_016880691.1:p.Ser477=
XM_017025203.1:c.1431T>C	XP_016880692.1:p.Ser477=
NM_032043.3:c.3285T>C MANE Select	NP_114432.2:p.Ser1095=