Canonical Allele Identifier: CA501335194
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144082798
MyVariant Identifiers: chr17:g.59761152T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683791T>C , CM000679.2:g.61683791T>C GRCh38
NC_000017.10:g.59761152T>C , CM000679.1:g.59761152T>C GRCh37
NC_000017.9:g.57115934T>C NCBI36
NG_007409.2:g.184769A>G , LRG_300:g.184769A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1995A>G
ENST00000682453.1:c.3255A>G ENSP00000506943.1:p.Arg1085=
ENST00000682477.1:c.*2681A>G ENSP00000507075.1:n.*2681A>G
ENST00000682589.1:n.9132A>G
ENST00000682755.1:c.3033A>G ENSP00000507660.1:p.Arg1011=
ENST00000682989.1:c.*346A>G ENSP00000507786.1:n.*346A>G
ENST00000683039.1:c.3255A>G ENSP00000508303.1:p.Arg1085=
ENST00000683235.1:c.*670A>G ENSP00000507646.1:n.*670A>G
ENST00000683535.1:n.1385A>G
ENST00000684584.1:c.2418A>G ENSP00000508044.1:p.Arg806=
ENST00000684626.1:n.1501A>G
ENST00000684769.1:c.1445A>G ENSP00000507691.1:n.1445A>G
ENST00000259008.7:c.3255A>G MANE Select ENSP00000259008.2:p.Arg1085=
ENST00000259008.6:c.3255A>G ENSP00000259008.2:p.Arg1085=
NM_032043.2:c.3255A>G , LRG_300t1:c.3255A>G NP_114432.2:p.Arg1085=
XM_011525332.1:c.3315A>G XP_011523634.1:p.Arg1105=
XM_011525333.1:c.3315A>G XP_011523635.1:p.Arg1105=
XM_011525334.1:c.3315A>G XP_011523636.1:p.Arg1105=
XM_011525335.1:c.3255A>G XP_011523637.1:p.Arg1085=
XM_011525336.1:c.3195A>G XP_011523638.1:p.Arg1065=
XM_011525337.1:c.3114A>G XP_011523639.1:p.Arg1038=
XM_011525338.1:c.2832A>G XP_011523640.1:p.Arg944=
XM_011525332.3:c.3315A>G XP_011523634.1:p.Arg1105=
XM_011525333.3:c.3315A>G XP_011523635.1:p.Arg1105=
XM_011525334.2:c.3315A>G XP_011523636.1:p.Arg1105=
XM_011525335.3:c.3255A>G XP_011523637.1:p.Arg1085=
XM_011525336.2:c.3195A>G XP_011523638.1:p.Arg1065=
XM_011525337.2:c.3114A>G XP_011523639.1:p.Arg1038=
XM_011525338.2:c.2832A>G XP_011523640.1:p.Arg944=
XM_017025200.1:c.2772A>G XP_016880689.1:p.Arg924=
XM_017025201.1:c.2772A>G XP_016880690.1:p.Arg924=
XM_017025202.1:c.1401A>G XP_016880691.1:p.Arg467=
XM_017025203.1:c.1401A>G XP_016880692.1:p.Arg467=
NM_032043.3:c.3255A>G MANE Select NP_114432.2:p.Arg1085=