Canonical Allele Identifier: CA510555128
Gene: TOP1 HGNC NCBI
PLCG1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2145968222
MyVariant Identifiers: chr20:g.39745025G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.41116385G>C , CM000682.2:g.41116385G>C GRCh38
NC_000020.10:g.39745025G>C , CM000682.1:g.39745025G>C GRCh37
NC_000020.9:g.39178439G>C NCBI36
NG_012262.1:g.92564G>C
NG_012262.2:g.92564G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361337.3:c.1815G>C (TOP1) MANE Select ENSP00000354522.2:p.Leu605=
ENST00000680945.1:c.408G>C (TOP1) ENSP00000504935.1:p.Leu136=
ENST00000681058.1:n.6601G>C (TOP1)
ENST00000681113.1:c.*1510G>C (TOP1) ENSP00000505788.1:n.*1510G>C
ENST00000681392.1:n.3123G>C (TOP1)
ENST00000681884.1:n.3077G>C (TOP1)
ENST00000361337.2:c.1815G>C (TOP1) ENSP00000354522.2:p.Leu605=
NM_003286.2:c.1815G>C (TOP1) NP_003277.1:p.Leu605=
NR_109889.1:n.711-15096C>G (PLCG1-AS1)
XM_011529032.1:c.1311G>C (TOP1) XP_011527334.1:p.Leu437=
XM_011529033.1:c.1077G>C (TOP1) XP_011527335.1:p.Leu359=
NM_003286.3:c.1815G>C (TOP1) NP_003277.1:p.Leu605=
NM_003286.4:c.1815G>C (TOP1) MANE Select NP_003277.1:p.Leu605=