Canonical Allele Identifier: CA501335128

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1637990
• ClinVar RCV Id: RCV002133771 ; RCV004046584
• dbSNP Id: rs2144079396
• MyVariant Identifiers: chr17:g.59761062G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683701G>A , CM000679.2:g.61683701G>A	GRCh38
NC_000017.10:g.59761062G>A , CM000679.1:g.59761062G>A	GRCh37
NC_000017.9:g.57115844G>A	NCBI36
NG_007409.2:g.184859C>T , LRG_300:g.184859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2085C>T
ENST00000682453.1:c.3345C>T	ENSP00000506943.1:p.Ser1115=
ENST00000682477.1:c.*2771C>T	ENSP00000507075.1:n.*2771C>T
ENST00000682589.1:n.9222C>T
ENST00000682755.1:c.3123C>T	ENSP00000507660.1:p.Ser1041=
ENST00000682989.1:c.*436C>T	ENSP00000507786.1:n.*436C>T
ENST00000683039.1:c.3345C>T	ENSP00000508303.1:p.Ser1115=
ENST00000683235.1:c.*760C>T	ENSP00000507646.1:n.*760C>T
ENST00000683535.1:n.1475C>T
ENST00000684584.1:c.2508C>T	ENSP00000508044.1:p.Ser836=
ENST00000684626.1:n.1591C>T
ENST00000684769.1:c.1535C>T	ENSP00000507691.1:n.1535C>T
ENST00000259008.7:c.3345C>T MANE Select	ENSP00000259008.2:p.Ser1115=
ENST00000259008.6:c.3345C>T	ENSP00000259008.2:p.Ser1115=
NM_032043.2:c.3345C>T , LRG_300t1:c.3345C>T	NP_114432.2:p.Ser1115=
XM_011525332.1:c.3405C>T	XP_011523634.1:p.Ser1135=
XM_011525333.1:c.3405C>T	XP_011523635.1:p.Ser1135=
XM_011525334.1:c.3405C>T	XP_011523636.1:p.Ser1135=
XM_011525335.1:c.3345C>T	XP_011523637.1:p.Ser1115=
XM_011525336.1:c.3285C>T	XP_011523638.1:p.Ser1095=
XM_011525337.1:c.3204C>T	XP_011523639.1:p.Ser1068=
XM_011525338.1:c.2922C>T	XP_011523640.1:p.Ser974=
XM_011525332.3:c.3405C>T	XP_011523634.1:p.Ser1135=
XM_011525333.3:c.3405C>T	XP_011523635.1:p.Ser1135=
XM_011525334.2:c.3405C>T	XP_011523636.1:p.Ser1135=
XM_011525335.3:c.3345C>T	XP_011523637.1:p.Ser1115=
XM_011525336.2:c.3285C>T	XP_011523638.1:p.Ser1095=
XM_011525337.2:c.3204C>T	XP_011523639.1:p.Ser1068=
XM_011525338.2:c.2922C>T	XP_011523640.1:p.Ser974=
XM_017025200.1:c.2862C>T	XP_016880689.1:p.Ser954=
XM_017025201.1:c.2862C>T	XP_016880690.1:p.Ser954=
XM_017025202.1:c.1491C>T	XP_016880691.1:p.Ser497=
XM_017025203.1:c.1491C>T	XP_016880692.1:p.Ser497=
NM_032043.3:c.3345C>T MANE Select	NP_114432.2:p.Ser1115=