Canonical Allele Identifier: CA400477901

Gene: BRIP1

Linked Data

• dbSNP Id: rs542698396
• MyVariant Identifiers: chr17:g.59760756C>G (hg19) ; chr17:g.61683395C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683395C>G , CM000679.2:g.61683395C>G	GRCh38
NC_000017.10:g.59760756C>G , CM000679.1:g.59760756C>G	GRCh37
NC_000017.9:g.57115538C>G	NCBI36
NG_007409.2:g.185165G>C , LRG_300:g.185165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2391G>C
ENST00000682453.1:c.3651G>C	ENSP00000506943.1:p.Trp1217Cys
ENST00000682477.1:c.*3077G>C	ENSP00000507075.1:n.*3077G>C
ENST00000682589.1:n.9528G>C
ENST00000682755.1:c.3429G>C	ENSP00000507660.1:p.Trp1143Cys
ENST00000682989.1:c.*742G>C	ENSP00000507786.1:n.*742G>C
ENST00000683039.1:c.3651G>C	ENSP00000508303.1:p.Trp1217Cys
ENST00000683235.1:c.*1066G>C	ENSP00000507646.1:n.*1066G>C
ENST00000683535.1:n.1781G>C
ENST00000684584.1:c.2814G>C	ENSP00000508044.1:p.Trp938Cys
ENST00000684626.1:n.1897G>C
ENST00000684769.1:c.1841G>C	ENSP00000507691.1:n.1841G>C
ENST00000259008.7:c.3651G>C MANE Select	ENSP00000259008.2:p.Trp1217Cys
ENST00000259008.6:c.3651G>C	ENSP00000259008.2:p.Trp1217Cys
NM_032043.2:c.3651G>C , LRG_300t1:c.3651G>C	NP_114432.2:p.Trp1217Cys
XM_011525332.1:c.3711G>C	XP_011523634.1:p.Trp1237Cys
XM_011525333.1:c.3711G>C	XP_011523635.1:p.Trp1237Cys
XM_011525334.1:c.3711G>C	XP_011523636.1:p.Trp1237Cys
XM_011525335.1:c.3651G>C	XP_011523637.1:p.Trp1217Cys
XM_011525336.1:c.3591G>C	XP_011523638.1:p.Trp1197Cys
XM_011525337.1:c.3510G>C	XP_011523639.1:p.Trp1170Cys
XM_011525338.1:c.3228G>C	XP_011523640.1:p.Trp1076Cys
XM_011525332.3:c.3711G>C	XP_011523634.1:p.Trp1237Cys
XM_011525333.3:c.3711G>C	XP_011523635.1:p.Trp1237Cys
XM_011525334.2:c.3711G>C	XP_011523636.1:p.Trp1237Cys
XM_011525335.3:c.3651G>C	XP_011523637.1:p.Trp1217Cys
XM_011525336.2:c.3591G>C	XP_011523638.1:p.Trp1197Cys
XM_011525337.2:c.3510G>C	XP_011523639.1:p.Trp1170Cys
XM_011525338.2:c.3228G>C	XP_011523640.1:p.Trp1076Cys
XM_017025200.1:c.3168G>C	XP_016880689.1:p.Trp1056Cys
XM_017025201.1:c.3168G>C	XP_016880690.1:p.Trp1056Cys
XM_017025202.1:c.1797G>C	XP_016880691.1:p.Trp599Cys
XM_017025203.1:c.1797G>C	XP_016880692.1:p.Trp599Cys
NM_032043.3:c.3651G>C MANE Select	NP_114432.2:p.Trp1217Cys