Canonical Allele Identifier: CA400478747

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1043014
• ClinVar RCV Id: RCV001347059
• dbSNP Id: rs1315917374
• MyVariant Identifiers: chr17:g.59760978A>C (hg19) ; chr17:g.61683617A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683617A>C , CM000679.2:g.61683617A>C	GRCh38
NC_000017.10:g.59760978A>C , CM000679.1:g.59760978A>C	GRCh37
NC_000017.9:g.57115760A>C	NCBI36
NG_007409.2:g.184943T>G , LRG_300:g.184943T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2169T>G
ENST00000682453.1:c.3429T>G	ENSP00000506943.1:p.Asp1143Glu
ENST00000682477.1:c.*2855T>G	ENSP00000507075.1:n.*2855T>G
ENST00000682589.1:n.9306T>G
ENST00000682755.1:c.3207T>G	ENSP00000507660.1:p.Asp1069Glu
ENST00000682989.1:c.*520T>G	ENSP00000507786.1:n.*520T>G
ENST00000683039.1:c.3429T>G	ENSP00000508303.1:p.Asp1143Glu
ENST00000683235.1:c.*844T>G	ENSP00000507646.1:n.*844T>G
ENST00000683535.1:n.1559T>G
ENST00000684584.1:c.2592T>G	ENSP00000508044.1:p.Asp864Glu
ENST00000684626.1:n.1675T>G
ENST00000684769.1:c.1619T>G	ENSP00000507691.1:n.1619T>G
ENST00000259008.7:c.3429T>G MANE Select	ENSP00000259008.2:p.Asp1143Glu
ENST00000259008.6:c.3429T>G	ENSP00000259008.2:p.Asp1143Glu
NM_032043.2:c.3429T>G , LRG_300t1:c.3429T>G	NP_114432.2:p.Asp1143Glu
XM_011525332.1:c.3489T>G	XP_011523634.1:p.Asp1163Glu
XM_011525333.1:c.3489T>G	XP_011523635.1:p.Asp1163Glu
XM_011525334.1:c.3489T>G	XP_011523636.1:p.Asp1163Glu
XM_011525335.1:c.3429T>G	XP_011523637.1:p.Asp1143Glu
XM_011525336.1:c.3369T>G	XP_011523638.1:p.Asp1123Glu
XM_011525337.1:c.3288T>G	XP_011523639.1:p.Asp1096Glu
XM_011525338.1:c.3006T>G	XP_011523640.1:p.Asp1002Glu
XM_011525332.3:c.3489T>G	XP_011523634.1:p.Asp1163Glu
XM_011525333.3:c.3489T>G	XP_011523635.1:p.Asp1163Glu
XM_011525334.2:c.3489T>G	XP_011523636.1:p.Asp1163Glu
XM_011525335.3:c.3429T>G	XP_011523637.1:p.Asp1143Glu
XM_011525336.2:c.3369T>G	XP_011523638.1:p.Asp1123Glu
XM_011525337.2:c.3288T>G	XP_011523639.1:p.Asp1096Glu
XM_011525338.2:c.3006T>G	XP_011523640.1:p.Asp1002Glu
XM_017025200.1:c.2946T>G	XP_016880689.1:p.Asp982Glu
XM_017025201.1:c.2946T>G	XP_016880690.1:p.Asp982Glu
XM_017025202.1:c.1575T>G	XP_016880691.1:p.Asp525Glu
XM_017025203.1:c.1575T>G	XP_016880692.1:p.Asp525Glu
NM_032043.3:c.3429T>G MANE Select	NP_114432.2:p.Asp1143Glu