Canonical Allele Identifier: CA501334990

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823847
• ClinVar RCV Id: RCV001020446 ; RCV001394990
• dbSNP Id: rs1196759903
• gnomAD v2: 17-59760909-T-C
• MyVariant Identifiers: chr17:g.59760909T>C (hg19) ; chr17:g.61683548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683548T>C , CM000679.2:g.61683548T>C	GRCh38
NC_000017.10:g.59760909T>C , CM000679.1:g.59760909T>C	GRCh37
NC_000017.9:g.57115691T>C	NCBI36
NG_007409.2:g.185012A>G , LRG_300:g.185012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2238A>G
ENST00000682453.1:c.3498A>G	ENSP00000506943.1:p.Leu1166=
ENST00000682477.1:c.*2924A>G	ENSP00000507075.1:n.*2924A>G
ENST00000682589.1:n.9375A>G
ENST00000682755.1:c.3276A>G	ENSP00000507660.1:p.Leu1092=
ENST00000682989.1:c.*589A>G	ENSP00000507786.1:n.*589A>G
ENST00000683039.1:c.3498A>G	ENSP00000508303.1:p.Leu1166=
ENST00000683235.1:c.*913A>G	ENSP00000507646.1:n.*913A>G
ENST00000683535.1:n.1628A>G
ENST00000684584.1:c.2661A>G	ENSP00000508044.1:p.Leu887=
ENST00000684626.1:n.1744A>G
ENST00000684769.1:c.1688A>G	ENSP00000507691.1:n.1688A>G
ENST00000259008.7:c.3498A>G MANE Select	ENSP00000259008.2:p.Leu1166=
ENST00000259008.6:c.3498A>G	ENSP00000259008.2:p.Leu1166=
NM_032043.2:c.3498A>G , LRG_300t1:c.3498A>G	NP_114432.2:p.Leu1166=
XM_011525332.1:c.3558A>G	XP_011523634.1:p.Leu1186=
XM_011525333.1:c.3558A>G	XP_011523635.1:p.Leu1186=
XM_011525334.1:c.3558A>G	XP_011523636.1:p.Leu1186=
XM_011525335.1:c.3498A>G	XP_011523637.1:p.Leu1166=
XM_011525336.1:c.3438A>G	XP_011523638.1:p.Leu1146=
XM_011525337.1:c.3357A>G	XP_011523639.1:p.Leu1119=
XM_011525338.1:c.3075A>G	XP_011523640.1:p.Leu1025=
XM_011525332.3:c.3558A>G	XP_011523634.1:p.Leu1186=
XM_011525333.3:c.3558A>G	XP_011523635.1:p.Leu1186=
XM_011525334.2:c.3558A>G	XP_011523636.1:p.Leu1186=
XM_011525335.3:c.3498A>G	XP_011523637.1:p.Leu1166=
XM_011525336.2:c.3438A>G	XP_011523638.1:p.Leu1146=
XM_011525337.2:c.3357A>G	XP_011523639.1:p.Leu1119=
XM_011525338.2:c.3075A>G	XP_011523640.1:p.Leu1025=
XM_017025200.1:c.3015A>G	XP_016880689.1:p.Leu1005=
XM_017025201.1:c.3015A>G	XP_016880690.1:p.Leu1005=
XM_017025202.1:c.1644A>G	XP_016880691.1:p.Leu548=
XM_017025203.1:c.1644A>G	XP_016880692.1:p.Leu548=
NM_032043.3:c.3498A>G MANE Select	NP_114432.2:p.Leu1166=