Canonical Allele Identifier: CA400479439

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1053511
• ClinVar RCV Id: RCV001361868
• dbSNP Id: rs2144085714
• MyVariant Identifiers: chr17:g.59761234A>C (hg19) ; chr17:g.61683873A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683873A>C , CM000679.2:g.61683873A>C	GRCh38
NC_000017.10:g.59761234A>C , CM000679.1:g.59761234A>C	GRCh37
NC_000017.9:g.57116016A>C	NCBI36
NG_007409.2:g.184687T>G , LRG_300:g.184687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1913T>G
ENST00000682453.1:c.3173T>G	ENSP00000506943.1:p.Leu1058Arg
ENST00000682477.1:c.*2599T>G	ENSP00000507075.1:n.*2599T>G
ENST00000682589.1:n.9050T>G
ENST00000682755.1:c.2951T>G	ENSP00000507660.1:p.Leu984Arg
ENST00000682989.1:c.*264T>G	ENSP00000507786.1:n.*264T>G
ENST00000683039.1:c.3173T>G	ENSP00000508303.1:p.Leu1058Arg
ENST00000683235.1:c.*588T>G	ENSP00000507646.1:n.*588T>G
ENST00000683535.1:n.1303T>G
ENST00000684584.1:c.2336T>G	ENSP00000508044.1:p.Leu779Arg
ENST00000684626.1:n.1419T>G
ENST00000684769.1:c.1363T>G	ENSP00000507691.1:n.1363T>G
ENST00000259008.7:c.3173T>G MANE Select	ENSP00000259008.2:p.Leu1058Arg
ENST00000259008.6:c.3173T>G	ENSP00000259008.2:p.Leu1058Arg
NM_032043.2:c.3173T>G , LRG_300t1:c.3173T>G	NP_114432.2:p.Leu1058Arg
XM_011525332.1:c.3233T>G	XP_011523634.1:p.Leu1078Arg
XM_011525333.1:c.3233T>G	XP_011523635.1:p.Leu1078Arg
XM_011525334.1:c.3233T>G	XP_011523636.1:p.Leu1078Arg
XM_011525335.1:c.3173T>G	XP_011523637.1:p.Leu1058Arg
XM_011525336.1:c.3113T>G	XP_011523638.1:p.Leu1038Arg
XM_011525337.1:c.3032T>G	XP_011523639.1:p.Leu1011Arg
XM_011525338.1:c.2750T>G	XP_011523640.1:p.Leu917Arg
XM_011525332.3:c.3233T>G	XP_011523634.1:p.Leu1078Arg
XM_011525333.3:c.3233T>G	XP_011523635.1:p.Leu1078Arg
XM_011525334.2:c.3233T>G	XP_011523636.1:p.Leu1078Arg
XM_011525335.3:c.3173T>G	XP_011523637.1:p.Leu1058Arg
XM_011525336.2:c.3113T>G	XP_011523638.1:p.Leu1038Arg
XM_011525337.2:c.3032T>G	XP_011523639.1:p.Leu1011Arg
XM_011525338.2:c.2750T>G	XP_011523640.1:p.Leu917Arg
XM_017025200.1:c.2690T>G	XP_016880689.1:p.Leu897Arg
XM_017025201.1:c.2690T>G	XP_016880690.1:p.Leu897Arg
XM_017025202.1:c.1319T>G	XP_016880691.1:p.Leu440Arg
XM_017025203.1:c.1319T>G	XP_016880692.1:p.Leu440Arg
NM_032043.3:c.3173T>G MANE Select	NP_114432.2:p.Leu1058Arg