Canonical Allele Identifier: CA400478944

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1721551
• ClinVar RCV Id: RCV002300511
• MyVariant Identifiers: chr17:g.59761067G>C (hg19) ; chr17:g.61683706G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683706G>C , CM000679.2:g.61683706G>C	GRCh38
NC_000017.10:g.59761067G>C , CM000679.1:g.59761067G>C	GRCh37
NC_000017.9:g.57115849G>C	NCBI36
NG_007409.2:g.184854C>G , LRG_300:g.184854C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2080C>G
ENST00000682453.1:c.3340C>G	ENSP00000506943.1:p.Gln1114Glu
ENST00000682477.1:c.*2766C>G	ENSP00000507075.1:n.*2766C>G
ENST00000682589.1:n.9217C>G
ENST00000682755.1:c.3118C>G	ENSP00000507660.1:p.Gln1040Glu
ENST00000682989.1:c.*431C>G	ENSP00000507786.1:n.*431C>G
ENST00000683039.1:c.3340C>G	ENSP00000508303.1:p.Gln1114Glu
ENST00000683235.1:c.*755C>G	ENSP00000507646.1:n.*755C>G
ENST00000683535.1:n.1470C>G
ENST00000684584.1:c.2503C>G	ENSP00000508044.1:p.Gln835Glu
ENST00000684626.1:n.1586C>G
ENST00000684769.1:c.1530C>G	ENSP00000507691.1:n.1530C>G
ENST00000259008.7:c.3340C>G MANE Select	ENSP00000259008.2:p.Gln1114Glu
ENST00000259008.6:c.3340C>G	ENSP00000259008.2:p.Gln1114Glu
NM_032043.2:c.3340C>G , LRG_300t1:c.3340C>G	NP_114432.2:p.Gln1114Glu
XM_011525332.1:c.3400C>G	XP_011523634.1:p.Gln1134Glu
XM_011525333.1:c.3400C>G	XP_011523635.1:p.Gln1134Glu
XM_011525334.1:c.3400C>G	XP_011523636.1:p.Gln1134Glu
XM_011525335.1:c.3340C>G	XP_011523637.1:p.Gln1114Glu
XM_011525336.1:c.3280C>G	XP_011523638.1:p.Gln1094Glu
XM_011525337.1:c.3199C>G	XP_011523639.1:p.Gln1067Glu
XM_011525338.1:c.2917C>G	XP_011523640.1:p.Gln973Glu
XM_011525332.3:c.3400C>G	XP_011523634.1:p.Gln1134Glu
XM_011525333.3:c.3400C>G	XP_011523635.1:p.Gln1134Glu
XM_011525334.2:c.3400C>G	XP_011523636.1:p.Gln1134Glu
XM_011525335.3:c.3340C>G	XP_011523637.1:p.Gln1114Glu
XM_011525336.2:c.3280C>G	XP_011523638.1:p.Gln1094Glu
XM_011525337.2:c.3199C>G	XP_011523639.1:p.Gln1067Glu
XM_011525338.2:c.2917C>G	XP_011523640.1:p.Gln973Glu
XM_017025200.1:c.2857C>G	XP_016880689.1:p.Gln953Glu
XM_017025201.1:c.2857C>G	XP_016880690.1:p.Gln953Glu
XM_017025202.1:c.1486C>G	XP_016880691.1:p.Gln496Glu
XM_017025203.1:c.1486C>G	XP_016880692.1:p.Gln496Glu
NM_032043.3:c.3340C>G MANE Select	NP_114432.2:p.Gln1114Glu