Canonical Allele Identifier: CA409021840
Gene: TOP1 HGNC NCBI
PLCG1-AS1 HGNC NCBI

Linked Data

COSMIC: COSM478152

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.41116332G>A , CM000682.2:g.41116332G>A GRCh38
NC_000020.10:g.39744972G>A , CM000682.1:g.39744972G>A GRCh37
NC_000020.9:g.39178386G>A NCBI36
NG_012262.1:g.92511G>A
NG_012262.2:g.92511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361337.3:c.1762G>A (TOP1) MANE Select ENSP00000354522.2:p.Val588Ile
ENST00000680945.1:c.355G>A (TOP1) ENSP00000504935.1:p.Val119Ile
ENST00000681058.1:n.6548G>A (TOP1)
ENST00000681113.1:c.*1457G>A (TOP1) ENSP00000505788.1:n.*1457G>A
ENST00000681392.1:n.3070G>A (TOP1)
ENST00000681884.1:n.3024G>A (TOP1)
ENST00000361337.2:c.1762G>A (TOP1) ENSP00000354522.2:p.Val588Ile
NM_003286.2:c.1762G>A (TOP1) NP_003277.1:p.Val588Ile
NR_109889.1:n.711-15043C>T (PLCG1-AS1)
XM_011529032.1:c.1258G>A (TOP1) XP_011527334.1:p.Val420Ile
XM_011529033.1:c.1024G>A (TOP1) XP_011527335.1:p.Val342Ile
NM_003286.3:c.1762G>A (TOP1) NP_003277.1:p.Val588Ile
NM_003286.4:c.1762G>A (TOP1) MANE Select NP_003277.1:p.Val588Ile