Canonical Allele Identifier: CA10583615

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241651
• ClinVar RCV Id: RCV000228581 ; RCV000576093 ; RCV004541459
• dbSNP Id: rs878855152
• gnomAD v2: 17-59761218-C-T
• gnomAD v3: 17-61683857-C-T
• gnomAD v4: 17-61683857-C-T
• MyVariant Identifiers: chr17:g.59761218C>T (hg19) ; chr17:g.61683857C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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