Canonical Allele Identifier: CA400478491

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 965739
• ClinVar RCV Id: RCV001240256
• dbSNP Id: rs375741316
• MyVariant Identifiers: chr17:g.59760900G>C (hg19) ; chr17:g.61683539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683539G>C , CM000679.2:g.61683539G>C	GRCh38
NC_000017.10:g.59760900G>C , CM000679.1:g.59760900G>C	GRCh37
NC_000017.9:g.57115682G>C	NCBI36
NG_007409.2:g.185021C>G , LRG_300:g.185021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2247C>G
ENST00000682453.1:c.3507C>G	ENSP00000506943.1:p.Asp1169Glu
ENST00000682477.1:c.*2933C>G	ENSP00000507075.1:n.*2933C>G
ENST00000682589.1:n.9384C>G
ENST00000682755.1:c.3285C>G	ENSP00000507660.1:p.Asp1095Glu
ENST00000682989.1:c.*598C>G	ENSP00000507786.1:n.*598C>G
ENST00000683039.1:c.3507C>G	ENSP00000508303.1:p.Asp1169Glu
ENST00000683235.1:c.*922C>G	ENSP00000507646.1:n.*922C>G
ENST00000683535.1:n.1637C>G
ENST00000684584.1:c.2670C>G	ENSP00000508044.1:p.Asp890Glu
ENST00000684626.1:n.1753C>G
ENST00000684769.1:c.1697C>G	ENSP00000507691.1:n.1697C>G
ENST00000259008.7:c.3507C>G MANE Select	ENSP00000259008.2:p.Asp1169Glu
ENST00000259008.6:c.3507C>G	ENSP00000259008.2:p.Asp1169Glu
NM_032043.2:c.3507C>G , LRG_300t1:c.3507C>G	NP_114432.2:p.Asp1169Glu
XM_011525332.1:c.3567C>G	XP_011523634.1:p.Asp1189Glu
XM_011525333.1:c.3567C>G	XP_011523635.1:p.Asp1189Glu
XM_011525334.1:c.3567C>G	XP_011523636.1:p.Asp1189Glu
XM_011525335.1:c.3507C>G	XP_011523637.1:p.Asp1169Glu
XM_011525336.1:c.3447C>G	XP_011523638.1:p.Asp1149Glu
XM_011525337.1:c.3366C>G	XP_011523639.1:p.Asp1122Glu
XM_011525338.1:c.3084C>G	XP_011523640.1:p.Asp1028Glu
XM_011525332.3:c.3567C>G	XP_011523634.1:p.Asp1189Glu
XM_011525333.3:c.3567C>G	XP_011523635.1:p.Asp1189Glu
XM_011525334.2:c.3567C>G	XP_011523636.1:p.Asp1189Glu
XM_011525335.3:c.3507C>G	XP_011523637.1:p.Asp1169Glu
XM_011525336.2:c.3447C>G	XP_011523638.1:p.Asp1149Glu
XM_011525337.2:c.3366C>G	XP_011523639.1:p.Asp1122Glu
XM_011525338.2:c.3084C>G	XP_011523640.1:p.Asp1028Glu
XM_017025200.1:c.3024C>G	XP_016880689.1:p.Asp1008Glu
XM_017025201.1:c.3024C>G	XP_016880690.1:p.Asp1008Glu
XM_017025202.1:c.1653C>G	XP_016880691.1:p.Asp551Glu
XM_017025203.1:c.1653C>G	XP_016880692.1:p.Asp551Glu
NM_032043.3:c.3507C>G MANE Select	NP_114432.2:p.Asp1169Glu