Canonical Allele Identifier: CA409021736
Gene: TOP1 HGNC NCBI
PLCG1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.41116287C>A , CM000682.2:g.41116287C>A GRCh38
NC_000020.10:g.39744927C>A , CM000682.1:g.39744927C>A GRCh37
NC_000020.9:g.39178341C>A NCBI36
NG_012262.1:g.92466C>A
NG_012262.2:g.92466C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361337.3:c.1717C>A (TOP1) MANE Select ENSP00000354522.2:p.Leu573Met
ENST00000680945.1:c.310C>A (TOP1) ENSP00000504935.1:p.Leu104Met
ENST00000681058.1:n.6503C>A (TOP1)
ENST00000681113.1:c.*1412C>A (TOP1) ENSP00000505788.1:n.*1412C>A
ENST00000681392.1:n.3025C>A (TOP1)
ENST00000681884.1:n.2979C>A (TOP1)
ENST00000361337.2:c.1717C>A (TOP1) ENSP00000354522.2:p.Leu573Met
NM_003286.2:c.1717C>A (TOP1) NP_003277.1:p.Leu573Met
NR_109889.1:n.711-14998G>T (PLCG1-AS1)
XM_011529032.1:c.1213C>A (TOP1) XP_011527334.1:p.Leu405Met
XM_011529033.1:c.979C>A (TOP1) XP_011527335.1:p.Leu327Met
NM_003286.3:c.1717C>A (TOP1) NP_003277.1:p.Leu573Met
NM_003286.4:c.1717C>A (TOP1) MANE Select NP_003277.1:p.Leu573Met