Canonical Allele Identifier: CA400478884

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144078698
• MyVariant Identifiers: chr17:g.59761041T>G (hg19) ; chr17:g.61683680T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683680T>G , CM000679.2:g.61683680T>G	GRCh38
NC_000017.10:g.59761041T>G , CM000679.1:g.59761041T>G	GRCh37
NC_000017.9:g.57115823T>G	NCBI36
NG_007409.2:g.184880A>C , LRG_300:g.184880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2106A>C
ENST00000682453.1:c.3366A>C	ENSP00000506943.1:p.Glu1122Asp
ENST00000682477.1:c.*2792A>C	ENSP00000507075.1:n.*2792A>C
ENST00000682589.1:n.9243A>C
ENST00000682755.1:c.3144A>C	ENSP00000507660.1:p.Glu1048Asp
ENST00000682989.1:c.*457A>C	ENSP00000507786.1:n.*457A>C
ENST00000683039.1:c.3366A>C	ENSP00000508303.1:p.Glu1122Asp
ENST00000683235.1:c.*781A>C	ENSP00000507646.1:n.*781A>C
ENST00000683535.1:n.1496A>C
ENST00000684584.1:c.2529A>C	ENSP00000508044.1:p.Glu843Asp
ENST00000684626.1:n.1612A>C
ENST00000684769.1:c.1556A>C	ENSP00000507691.1:n.1556A>C
ENST00000259008.7:c.3366A>C MANE Select	ENSP00000259008.2:p.Glu1122Asp
ENST00000259008.6:c.3366A>C	ENSP00000259008.2:p.Glu1122Asp
NM_032043.2:c.3366A>C , LRG_300t1:c.3366A>C	NP_114432.2:p.Glu1122Asp
XM_011525332.1:c.3426A>C	XP_011523634.1:p.Glu1142Asp
XM_011525333.1:c.3426A>C	XP_011523635.1:p.Glu1142Asp
XM_011525334.1:c.3426A>C	XP_011523636.1:p.Glu1142Asp
XM_011525335.1:c.3366A>C	XP_011523637.1:p.Glu1122Asp
XM_011525336.1:c.3306A>C	XP_011523638.1:p.Glu1102Asp
XM_011525337.1:c.3225A>C	XP_011523639.1:p.Glu1075Asp
XM_011525338.1:c.2943A>C	XP_011523640.1:p.Glu981Asp
XM_011525332.3:c.3426A>C	XP_011523634.1:p.Glu1142Asp
XM_011525333.3:c.3426A>C	XP_011523635.1:p.Glu1142Asp
XM_011525334.2:c.3426A>C	XP_011523636.1:p.Glu1142Asp
XM_011525335.3:c.3366A>C	XP_011523637.1:p.Glu1122Asp
XM_011525336.2:c.3306A>C	XP_011523638.1:p.Glu1102Asp
XM_011525337.2:c.3225A>C	XP_011523639.1:p.Glu1075Asp
XM_011525338.2:c.2943A>C	XP_011523640.1:p.Glu981Asp
XM_017025200.1:c.2883A>C	XP_016880689.1:p.Glu961Asp
XM_017025201.1:c.2883A>C	XP_016880690.1:p.Glu961Asp
XM_017025202.1:c.1512A>C	XP_016880691.1:p.Glu504Asp
XM_017025203.1:c.1512A>C	XP_016880692.1:p.Glu504Asp
NM_032043.3:c.3366A>C MANE Select	NP_114432.2:p.Glu1122Asp