Canonical Allele Identifier: CA501335331

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144085872
• MyVariant Identifiers: chr17:g.59761239T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683878T>C , CM000679.2:g.61683878T>C	GRCh38
NC_000017.10:g.59761239T>C , CM000679.1:g.59761239T>C	GRCh37
NC_000017.9:g.57116021T>C	NCBI36
NG_007409.2:g.184682A>G , LRG_300:g.184682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1908A>G
ENST00000682453.1:c.3168A>G	ENSP00000506943.1:p.Ser1056=
ENST00000682477.1:c.*2594A>G	ENSP00000507075.1:n.*2594A>G
ENST00000682589.1:n.9045A>G
ENST00000682755.1:c.2946A>G	ENSP00000507660.1:p.Ser982=
ENST00000682989.1:c.*259A>G	ENSP00000507786.1:n.*259A>G
ENST00000683039.1:c.3168A>G	ENSP00000508303.1:p.Ser1056=
ENST00000683235.1:c.*583A>G	ENSP00000507646.1:n.*583A>G
ENST00000683535.1:n.1298A>G
ENST00000684584.1:c.2331A>G	ENSP00000508044.1:p.Ser777=
ENST00000684626.1:n.1414A>G
ENST00000684769.1:c.1358A>G	ENSP00000507691.1:n.1358A>G
ENST00000259008.7:c.3168A>G MANE Select	ENSP00000259008.2:p.Ser1056=
ENST00000259008.6:c.3168A>G	ENSP00000259008.2:p.Ser1056=
NM_032043.2:c.3168A>G , LRG_300t1:c.3168A>G	NP_114432.2:p.Ser1056=
XM_011525332.1:c.3228A>G	XP_011523634.1:p.Ser1076=
XM_011525333.1:c.3228A>G	XP_011523635.1:p.Ser1076=
XM_011525334.1:c.3228A>G	XP_011523636.1:p.Ser1076=
XM_011525335.1:c.3168A>G	XP_011523637.1:p.Ser1056=
XM_011525336.1:c.3108A>G	XP_011523638.1:p.Ser1036=
XM_011525337.1:c.3027A>G	XP_011523639.1:p.Ser1009=
XM_011525338.1:c.2745A>G	XP_011523640.1:p.Ser915=
XM_011525332.3:c.3228A>G	XP_011523634.1:p.Ser1076=
XM_011525333.3:c.3228A>G	XP_011523635.1:p.Ser1076=
XM_011525334.2:c.3228A>G	XP_011523636.1:p.Ser1076=
XM_011525335.3:c.3168A>G	XP_011523637.1:p.Ser1056=
XM_011525336.2:c.3108A>G	XP_011523638.1:p.Ser1036=
XM_011525337.2:c.3027A>G	XP_011523639.1:p.Ser1009=
XM_011525338.2:c.2745A>G	XP_011523640.1:p.Ser915=
XM_017025200.1:c.2685A>G	XP_016880689.1:p.Ser895=
XM_017025201.1:c.2685A>G	XP_016880690.1:p.Ser895=
XM_017025202.1:c.1314A>G	XP_016880691.1:p.Ser438=
XM_017025203.1:c.1314A>G	XP_016880692.1:p.Ser438=
NM_032043.3:c.3168A>G MANE Select	NP_114432.2:p.Ser1056=