Canonical Allele Identifier: CA501335003
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144074819
MyVariant Identifiers: chr17:g.59760936T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683575T>C , CM000679.2:g.61683575T>C GRCh38
NC_000017.10:g.59760936T>C , CM000679.1:g.59760936T>C GRCh37
NC_000017.9:g.57115718T>C NCBI36
NG_007409.2:g.184985A>G , LRG_300:g.184985A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2211A>G
ENST00000682453.1:c.3471A>G ENSP00000506943.1:p.Arg1157=
ENST00000682477.1:c.*2897A>G ENSP00000507075.1:n.*2897A>G
ENST00000682589.1:n.9348A>G
ENST00000682755.1:c.3249A>G ENSP00000507660.1:p.Arg1083=
ENST00000682989.1:c.*562A>G ENSP00000507786.1:n.*562A>G
ENST00000683039.1:c.3471A>G ENSP00000508303.1:p.Arg1157=
ENST00000683235.1:c.*886A>G ENSP00000507646.1:n.*886A>G
ENST00000683535.1:n.1601A>G
ENST00000684584.1:c.2634A>G ENSP00000508044.1:p.Arg878=
ENST00000684626.1:n.1717A>G
ENST00000684769.1:c.1661A>G ENSP00000507691.1:n.1661A>G
ENST00000259008.7:c.3471A>G MANE Select ENSP00000259008.2:p.Arg1157=
ENST00000259008.6:c.3471A>G ENSP00000259008.2:p.Arg1157=
NM_032043.2:c.3471A>G , LRG_300t1:c.3471A>G NP_114432.2:p.Arg1157=
XM_011525332.1:c.3531A>G XP_011523634.1:p.Arg1177=
XM_011525333.1:c.3531A>G XP_011523635.1:p.Arg1177=
XM_011525334.1:c.3531A>G XP_011523636.1:p.Arg1177=
XM_011525335.1:c.3471A>G XP_011523637.1:p.Arg1157=
XM_011525336.1:c.3411A>G XP_011523638.1:p.Arg1137=
XM_011525337.1:c.3330A>G XP_011523639.1:p.Arg1110=
XM_011525338.1:c.3048A>G XP_011523640.1:p.Arg1016=
XM_011525332.3:c.3531A>G XP_011523634.1:p.Arg1177=
XM_011525333.3:c.3531A>G XP_011523635.1:p.Arg1177=
XM_011525334.2:c.3531A>G XP_011523636.1:p.Arg1177=
XM_011525335.3:c.3471A>G XP_011523637.1:p.Arg1157=
XM_011525336.2:c.3411A>G XP_011523638.1:p.Arg1137=
XM_011525337.2:c.3330A>G XP_011523639.1:p.Arg1110=
XM_011525338.2:c.3048A>G XP_011523640.1:p.Arg1016=
XM_017025200.1:c.2988A>G XP_016880689.1:p.Arg996=
XM_017025201.1:c.2988A>G XP_016880690.1:p.Arg996=
XM_017025202.1:c.1617A>G XP_016880691.1:p.Arg539=
XM_017025203.1:c.1617A>G XP_016880692.1:p.Arg539=
NM_032043.3:c.3471A>G MANE Select NP_114432.2:p.Arg1157=