Canonical Allele Identifier: CA409021765
Gene: TOP1 HGNC NCBI
PLCG1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.41116299C>T , CM000682.2:g.41116299C>T GRCh38
NC_000020.10:g.39744939C>T , CM000682.1:g.39744939C>T GRCh37
NC_000020.9:g.39178353C>T NCBI36
NG_012262.1:g.92478C>T
NG_012262.2:g.92478C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361337.3:c.1729C>T (TOP1) MANE Select ENSP00000354522.2:p.Leu577Phe
ENST00000680945.1:c.322C>T (TOP1) ENSP00000504935.1:p.Leu108Phe
ENST00000681058.1:n.6515C>T (TOP1)
ENST00000681113.1:c.*1424C>T (TOP1) ENSP00000505788.1:n.*1424C>T
ENST00000681392.1:n.3037C>T (TOP1)
ENST00000681884.1:n.2991C>T (TOP1)
ENST00000361337.2:c.1729C>T (TOP1) ENSP00000354522.2:p.Leu577Phe
NM_003286.2:c.1729C>T (TOP1) NP_003277.1:p.Leu577Phe
NR_109889.1:n.711-15010G>A (PLCG1-AS1)
XM_011529032.1:c.1225C>T (TOP1) XP_011527334.1:p.Leu409Phe
XM_011529033.1:c.991C>T (TOP1) XP_011527335.1:p.Leu331Phe
NM_003286.3:c.1729C>T (TOP1) NP_003277.1:p.Leu577Phe
NM_003286.4:c.1729C>T (TOP1) MANE Select NP_003277.1:p.Leu577Phe