Canonical Allele Identifier: CA409021917

Gene: TOP1 PLCG1-AS1

Linked Data

• MyVariant Identifiers: chr20:g.39745007G>C (hg19) ; chr20:g.41116367G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116367G>C , CM000682.2:g.41116367G>C	GRCh38
NC_000020.10:g.39745007G>C , CM000682.1:g.39745007G>C	GRCh37
NC_000020.9:g.39178421G>C	NCBI36
NG_012262.1:g.92546G>C
NG_012262.2:g.92546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1797G>C (TOP1) MANE Select	ENSP00000354522.2:p.Gln599His
ENST00000680945.1:c.390G>C (TOP1)	ENSP00000504935.1:p.Gln130His
ENST00000681058.1:n.6583G>C (TOP1)
ENST00000681113.1:c.*1492G>C (TOP1)	ENSP00000505788.1:n.*1492G>C
ENST00000681392.1:n.3105G>C (TOP1)
ENST00000681884.1:n.3059G>C (TOP1)
ENST00000361337.2:c.1797G>C (TOP1)	ENSP00000354522.2:p.Gln599His
NM_003286.2:c.1797G>C (TOP1)	NP_003277.1:p.Gln599His
NR_109889.1:n.711-15078C>G (PLCG1-AS1)
XM_011529032.1:c.1293G>C (TOP1)	XP_011527334.1:p.Gln431His
XM_011529033.1:c.1059G>C (TOP1)	XP_011527335.1:p.Gln353His
NM_003286.3:c.1797G>C (TOP1)	NP_003277.1:p.Gln599His
NM_003286.4:c.1797G>C (TOP1) MANE Select	NP_003277.1:p.Gln599His