Canonical Allele Identifier: CA510555034

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs1269476047
• gnomAD v2: 20-39744944-G-A
• gnomAD v4: 20-41116304-G-A
• MyVariant Identifiers: chr20:g.39744944G>A (hg19) ; chr20:g.41116304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116304G>A , CM000682.2:g.41116304G>A	GRCh38
NC_000020.10:g.39744944G>A , CM000682.1:g.39744944G>A	GRCh37
NC_000020.9:g.39178358G>A	NCBI36
NG_012262.1:g.92483G>A
NG_012262.2:g.92483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1734G>A (TOP1) MANE Select	ENSP00000354522.2:p.Gln578=
ENST00000680945.1:c.327G>A (TOP1)	ENSP00000504935.1:p.Gln109=
ENST00000681058.1:n.6520G>A (TOP1)
ENST00000681113.1:c.*1429G>A (TOP1)	ENSP00000505788.1:n.*1429G>A
ENST00000681392.1:n.3042G>A (TOP1)
ENST00000681884.1:n.2996G>A (TOP1)
ENST00000361337.2:c.1734G>A (TOP1)	ENSP00000354522.2:p.Gln578=
NM_003286.2:c.1734G>A (TOP1)	NP_003277.1:p.Gln578=
NR_109889.1:n.711-15015C>T (PLCG1-AS1)
XM_011529032.1:c.1230G>A (TOP1)	XP_011527334.1:p.Gln410=
XM_011529033.1:c.996G>A (TOP1)	XP_011527335.1:p.Gln332=
NM_003286.3:c.1734G>A (TOP1)	NP_003277.1:p.Gln578=
NM_003286.4:c.1734G>A (TOP1) MANE Select	NP_003277.1:p.Gln578=