Canonical Allele Identifier: CA510555085

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs1473800642
• gnomAD v2: 20-39744992-C-T
• gnomAD v4: 20-41116352-C-T
• MyVariant Identifiers: chr20:g.39744992C>T (hg19) ; chr20:g.41116352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116352C>T , CM000682.2:g.41116352C>T	GRCh38
NC_000020.10:g.39744992C>T , CM000682.1:g.39744992C>T	GRCh37
NC_000020.9:g.39178406C>T	NCBI36
NG_012262.1:g.92531C>T
NG_012262.2:g.92531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1782C>T (TOP1) MANE Select	ENSP00000354522.2:p.Ala594=
ENST00000680945.1:c.375C>T (TOP1)	ENSP00000504935.1:p.Ala125=
ENST00000681058.1:n.6568C>T (TOP1)
ENST00000681113.1:c.*1477C>T (TOP1)	ENSP00000505788.1:n.*1477C>T
ENST00000681392.1:n.3090C>T (TOP1)
ENST00000681884.1:n.3044C>T (TOP1)
ENST00000361337.2:c.1782C>T (TOP1)	ENSP00000354522.2:p.Ala594=
NM_003286.2:c.1782C>T (TOP1)	NP_003277.1:p.Ala594=
NR_109889.1:n.711-15063G>A (PLCG1-AS1)
XM_011529032.1:c.1278C>T (TOP1)	XP_011527334.1:p.Ala426=
XM_011529033.1:c.1044C>T (TOP1)	XP_011527335.1:p.Ala348=
NM_003286.3:c.1782C>T (TOP1)	NP_003277.1:p.Ala594=
NM_003286.4:c.1782C>T (TOP1) MANE Select	NP_003277.1:p.Ala594=