Canonical Allele Identifier: CA510555105
Gene: TOP1 HGNC NCBI
PLCG1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.39745004A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.41116364A>T , CM000682.2:g.41116364A>T GRCh38
NC_000020.10:g.39745004A>T , CM000682.1:g.39745004A>T GRCh37
NC_000020.9:g.39178418A>T NCBI36
NG_012262.1:g.92543A>T
NG_012262.2:g.92543A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361337.3:c.1794A>T (TOP1) MANE Select ENSP00000354522.2:p.Leu598=
ENST00000680945.1:c.387A>T (TOP1) ENSP00000504935.1:p.Leu129=
ENST00000681058.1:n.6580A>T (TOP1)
ENST00000681113.1:c.*1489A>T (TOP1) ENSP00000505788.1:n.*1489A>T
ENST00000681392.1:n.3102A>T (TOP1)
ENST00000681884.1:n.3056A>T (TOP1)
ENST00000361337.2:c.1794A>T (TOP1) ENSP00000354522.2:p.Leu598=
NM_003286.2:c.1794A>T (TOP1) NP_003277.1:p.Leu598=
NR_109889.1:n.711-15075T>A (PLCG1-AS1)
XM_011529032.1:c.1290A>T (TOP1) XP_011527334.1:p.Leu430=
XM_011529033.1:c.1056A>T (TOP1) XP_011527335.1:p.Leu352=
NM_003286.3:c.1794A>T (TOP1) NP_003277.1:p.Leu598=
NM_003286.4:c.1794A>T (TOP1) MANE Select NP_003277.1:p.Leu598=