Canonical Allele Identifier: CA400479528

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144086351
• MyVariant Identifiers: chr17:g.59761254A>C (hg19) ; chr17:g.61683893A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683893A>C , CM000679.2:g.61683893A>C	GRCh38
NC_000017.10:g.59761254A>C , CM000679.1:g.59761254A>C	GRCh37
NC_000017.9:g.57116036A>C	NCBI36
NG_007409.2:g.184667T>G , LRG_300:g.184667T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1893T>G
ENST00000682453.1:c.3153T>G	ENSP00000506943.1:p.Asp1051Glu
ENST00000682477.1:c.*2579T>G	ENSP00000507075.1:n.*2579T>G
ENST00000682589.1:n.9030T>G
ENST00000682755.1:c.2931T>G	ENSP00000507660.1:p.Asp977Glu
ENST00000682989.1:c.*244T>G	ENSP00000507786.1:n.*244T>G
ENST00000683039.1:c.3153T>G	ENSP00000508303.1:p.Asp1051Glu
ENST00000683235.1:c.*568T>G	ENSP00000507646.1:n.*568T>G
ENST00000683535.1:n.1283T>G
ENST00000684584.1:c.2316T>G	ENSP00000508044.1:p.Asp772Glu
ENST00000684626.1:n.1399T>G
ENST00000684769.1:c.1343T>G	ENSP00000507691.1:n.1343T>G
ENST00000259008.7:c.3153T>G MANE Select	ENSP00000259008.2:p.Asp1051Glu
ENST00000259008.6:c.3153T>G	ENSP00000259008.2:p.Asp1051Glu
NM_032043.2:c.3153T>G , LRG_300t1:c.3153T>G	NP_114432.2:p.Asp1051Glu
XM_011525332.1:c.3213T>G	XP_011523634.1:p.Asp1071Glu
XM_011525333.1:c.3213T>G	XP_011523635.1:p.Asp1071Glu
XM_011525334.1:c.3213T>G	XP_011523636.1:p.Asp1071Glu
XM_011525335.1:c.3153T>G	XP_011523637.1:p.Asp1051Glu
XM_011525336.1:c.3093T>G	XP_011523638.1:p.Asp1031Glu
XM_011525337.1:c.3012T>G	XP_011523639.1:p.Asp1004Glu
XM_011525338.1:c.2730T>G	XP_011523640.1:p.Asp910Glu
XM_011525332.3:c.3213T>G	XP_011523634.1:p.Asp1071Glu
XM_011525333.3:c.3213T>G	XP_011523635.1:p.Asp1071Glu
XM_011525334.2:c.3213T>G	XP_011523636.1:p.Asp1071Glu
XM_011525335.3:c.3153T>G	XP_011523637.1:p.Asp1051Glu
XM_011525336.2:c.3093T>G	XP_011523638.1:p.Asp1031Glu
XM_011525337.2:c.3012T>G	XP_011523639.1:p.Asp1004Glu
XM_011525338.2:c.2730T>G	XP_011523640.1:p.Asp910Glu
XM_017025200.1:c.2670T>G	XP_016880689.1:p.Asp890Glu
XM_017025201.1:c.2670T>G	XP_016880690.1:p.Asp890Glu
XM_017025202.1:c.1299T>G	XP_016880691.1:p.Asp433Glu
XM_017025203.1:c.1299T>G	XP_016880692.1:p.Asp433Glu
NM_032043.3:c.3153T>G MANE Select	NP_114432.2:p.Asp1051Glu