Canonical Allele Identifier: CA400479329

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2001790
• ClinVar RCV Id: RCV002815711
• dbSNP Id: rs2061316462
• MyVariant Identifiers: chr17:g.59761204G>C (hg19) ; chr17:g.61683843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683843G>C , CM000679.2:g.61683843G>C	GRCh38
NC_000017.10:g.59761204G>C , CM000679.1:g.59761204G>C	GRCh37
NC_000017.9:g.57115986G>C	NCBI36
NG_007409.2:g.184717C>G , LRG_300:g.184717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1943C>G
ENST00000682453.1:c.3203C>G	ENSP00000506943.1:p.Pro1068Arg
ENST00000682477.1:c.*2629C>G	ENSP00000507075.1:n.*2629C>G
ENST00000682589.1:n.9080C>G
ENST00000682755.1:c.2981C>G	ENSP00000507660.1:p.Pro994Arg
ENST00000682989.1:c.*294C>G	ENSP00000507786.1:n.*294C>G
ENST00000683039.1:c.3203C>G	ENSP00000508303.1:p.Pro1068Arg
ENST00000683235.1:c.*618C>G	ENSP00000507646.1:n.*618C>G
ENST00000683535.1:n.1333C>G
ENST00000684584.1:c.2366C>G	ENSP00000508044.1:p.Pro789Arg
ENST00000684626.1:n.1449C>G
ENST00000684769.1:c.1393C>G	ENSP00000507691.1:n.1393C>G
ENST00000259008.7:c.3203C>G MANE Select	ENSP00000259008.2:p.Pro1068Arg
ENST00000259008.6:c.3203C>G	ENSP00000259008.2:p.Pro1068Arg
NM_032043.2:c.3203C>G , LRG_300t1:c.3203C>G	NP_114432.2:p.Pro1068Arg
XM_011525332.1:c.3263C>G	XP_011523634.1:p.Pro1088Arg
XM_011525333.1:c.3263C>G	XP_011523635.1:p.Pro1088Arg
XM_011525334.1:c.3263C>G	XP_011523636.1:p.Pro1088Arg
XM_011525335.1:c.3203C>G	XP_011523637.1:p.Pro1068Arg
XM_011525336.1:c.3143C>G	XP_011523638.1:p.Pro1048Arg
XM_011525337.1:c.3062C>G	XP_011523639.1:p.Pro1021Arg
XM_011525338.1:c.2780C>G	XP_011523640.1:p.Pro927Arg
XM_011525332.3:c.3263C>G	XP_011523634.1:p.Pro1088Arg
XM_011525333.3:c.3263C>G	XP_011523635.1:p.Pro1088Arg
XM_011525334.2:c.3263C>G	XP_011523636.1:p.Pro1088Arg
XM_011525335.3:c.3203C>G	XP_011523637.1:p.Pro1068Arg
XM_011525336.2:c.3143C>G	XP_011523638.1:p.Pro1048Arg
XM_011525337.2:c.3062C>G	XP_011523639.1:p.Pro1021Arg
XM_011525338.2:c.2780C>G	XP_011523640.1:p.Pro927Arg
XM_017025200.1:c.2720C>G	XP_016880689.1:p.Pro907Arg
XM_017025201.1:c.2720C>G	XP_016880690.1:p.Pro907Arg
XM_017025202.1:c.1349C>G	XP_016880691.1:p.Pro450Arg
XM_017025203.1:c.1349C>G	XP_016880692.1:p.Pro450Arg
NM_032043.3:c.3203C>G MANE Select	NP_114432.2:p.Pro1068Arg