Canonical Allele Identifier: CA8690346

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1056468
• ClinVar RCV Id: RCV001365308 ; RCV002456565
• dbSNP Id: rs548674096
• ExAC: 17:59760780 A / T
• gnomAD v2: 17-59760780-A-T
• gnomAD v3: 17-61683419-A-T
• gnomAD v4: 17-61683419-A-T
• MyVariant Identifiers: chr17:g.59760780A>T (hg19) ; chr17:g.61683419A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683419A>T , CM000679.2:g.61683419A>T	GRCh38
NC_000017.10:g.59760780A>T , CM000679.1:g.59760780A>T	GRCh37
NC_000017.9:g.57115562A>T	NCBI36
NG_007409.2:g.185141T>A , LRG_300:g.185141T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2367T>A
ENST00000682453.1:c.3627T>A	ENSP00000506943.1:p.Ile1209=
ENST00000682477.1:c.*3053T>A	ENSP00000507075.1:n.*3053T>A
ENST00000682589.1:n.9504T>A
ENST00000682755.1:c.3405T>A	ENSP00000507660.1:p.Ile1135=
ENST00000682989.1:c.*718T>A	ENSP00000507786.1:n.*718T>A
ENST00000683039.1:c.3627T>A	ENSP00000508303.1:p.Ile1209=
ENST00000683235.1:c.*1042T>A	ENSP00000507646.1:n.*1042T>A
ENST00000683535.1:n.1757T>A
ENST00000684584.1:c.2790T>A	ENSP00000508044.1:p.Ile930=
ENST00000684626.1:n.1873T>A
ENST00000684769.1:c.1817T>A	ENSP00000507691.1:n.1817T>A
ENST00000259008.7:c.3627T>A MANE Select	ENSP00000259008.2:p.Ile1209=
ENST00000259008.6:c.3627T>A	ENSP00000259008.2:p.Ile1209=
NM_032043.2:c.3627T>A , LRG_300t1:c.3627T>A	NP_114432.2:p.Ile1209=
XM_011525332.1:c.3687T>A	XP_011523634.1:p.Ile1229=
XM_011525333.1:c.3687T>A	XP_011523635.1:p.Ile1229=
XM_011525334.1:c.3687T>A	XP_011523636.1:p.Ile1229=
XM_011525335.1:c.3627T>A	XP_011523637.1:p.Ile1209=
XM_011525336.1:c.3567T>A	XP_011523638.1:p.Ile1189=
XM_011525337.1:c.3486T>A	XP_011523639.1:p.Ile1162=
XM_011525338.1:c.3204T>A	XP_011523640.1:p.Ile1068=
XM_011525332.3:c.3687T>A	XP_011523634.1:p.Ile1229=
XM_011525333.3:c.3687T>A	XP_011523635.1:p.Ile1229=
XM_011525334.2:c.3687T>A	XP_011523636.1:p.Ile1229=
XM_011525335.3:c.3627T>A	XP_011523637.1:p.Ile1209=
XM_011525336.2:c.3567T>A	XP_011523638.1:p.Ile1189=
XM_011525337.2:c.3486T>A	XP_011523639.1:p.Ile1162=
XM_011525338.2:c.3204T>A	XP_011523640.1:p.Ile1068=
XM_017025200.1:c.3144T>A	XP_016880689.1:p.Ile1048=
XM_017025201.1:c.3144T>A	XP_016880690.1:p.Ile1048=
XM_017025202.1:c.1773T>A	XP_016880691.1:p.Ile591=
XM_017025203.1:c.1773T>A	XP_016880692.1:p.Ile591=
NM_032043.3:c.3627T>A MANE Select	NP_114432.2:p.Ile1209=