Canonical Allele Identifier: CA501335306

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 925176
• ClinVar RCV Id: RCV001186999
• dbSNP Id: rs878855152
• MyVariant Identifiers: chr17:g.59761218C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683857C>A , CM000679.2:g.61683857C>A	GRCh38
NC_000017.10:g.59761218C>A , CM000679.1:g.59761218C>A	GRCh37
NC_000017.9:g.57116000C>A	NCBI36
NG_007409.2:g.184703G>T , LRG_300:g.184703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1929G>T
ENST00000682453.1:c.3189G>T	ENSP00000506943.1:p.Ser1063=
ENST00000682477.1:c.*2615G>T	ENSP00000507075.1:n.*2615G>T
ENST00000682589.1:n.9066G>T
ENST00000682755.1:c.2967G>T	ENSP00000507660.1:p.Ser989=
ENST00000682989.1:c.*280G>T	ENSP00000507786.1:n.*280G>T
ENST00000683039.1:c.3189G>T	ENSP00000508303.1:p.Ser1063=
ENST00000683235.1:c.*604G>T	ENSP00000507646.1:n.*604G>T
ENST00000683535.1:n.1319G>T
ENST00000684584.1:c.2352G>T	ENSP00000508044.1:p.Ser784=
ENST00000684626.1:n.1435G>T
ENST00000684769.1:c.1379G>T	ENSP00000507691.1:n.1379G>T
ENST00000259008.7:c.3189G>T MANE Select	ENSP00000259008.2:p.Ser1063=
ENST00000259008.6:c.3189G>T	ENSP00000259008.2:p.Ser1063=
NM_032043.2:c.3189G>T , LRG_300t1:c.3189G>T	NP_114432.2:p.Ser1063=
XM_011525332.1:c.3249G>T	XP_011523634.1:p.Ser1083=
XM_011525333.1:c.3249G>T	XP_011523635.1:p.Ser1083=
XM_011525334.1:c.3249G>T	XP_011523636.1:p.Ser1083=
XM_011525335.1:c.3189G>T	XP_011523637.1:p.Ser1063=
XM_011525336.1:c.3129G>T	XP_011523638.1:p.Ser1043=
XM_011525337.1:c.3048G>T	XP_011523639.1:p.Ser1016=
XM_011525338.1:c.2766G>T	XP_011523640.1:p.Ser922=
XM_011525332.3:c.3249G>T	XP_011523634.1:p.Ser1083=
XM_011525333.3:c.3249G>T	XP_011523635.1:p.Ser1083=
XM_011525334.2:c.3249G>T	XP_011523636.1:p.Ser1083=
XM_011525335.3:c.3189G>T	XP_011523637.1:p.Ser1063=
XM_011525336.2:c.3129G>T	XP_011523638.1:p.Ser1043=
XM_011525337.2:c.3048G>T	XP_011523639.1:p.Ser1016=
XM_011525338.2:c.2766G>T	XP_011523640.1:p.Ser922=
XM_017025200.1:c.2706G>T	XP_016880689.1:p.Ser902=
XM_017025201.1:c.2706G>T	XP_016880690.1:p.Ser902=
XM_017025202.1:c.1335G>T	XP_016880691.1:p.Ser445=
XM_017025203.1:c.1335G>T	XP_016880692.1:p.Ser445=
NM_032043.3:c.3189G>T MANE Select	NP_114432.2:p.Ser1063=