Canonical Allele Identifier: CA9858310

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs749464925
• ExAC: 20:39744897 C / A
• gnomAD v2: 20-39744897-C-A
• gnomAD v4: 20-41116257-C-A
• MyVariant Identifiers: chr20:g.39744897C>A (hg19) ; chr20:g.41116257C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116257C>A , CM000682.2:g.41116257C>A	GRCh38
NC_000020.10:g.39744897C>A , CM000682.1:g.39744897C>A	GRCh37
NC_000020.9:g.39178311C>A	NCBI36
NG_012262.1:g.92436C>A
NG_012262.2:g.92436C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1708-21C>A (TOP1) MANE Select	ENSP00000354522.2:n.1708-21C>A
ENST00000680945.1:c.301-21C>A (TOP1)	ENSP00000504935.1:n.301-21C>A
ENST00000681058.1:n.6494-21C>A (TOP1)
ENST00000681113.1:c.*1403-21C>A (TOP1)	ENSP00000505788.1:n.*1403-21C>A
ENST00000681392.1:n.3016-21C>A (TOP1)
ENST00000681884.1:n.2970-21C>A (TOP1)
ENST00000361337.2:c.1708-21C>A (TOP1)	ENSP00000354522.2:n.1708-21C>A
NM_003286.2:c.1708-21C>A (TOP1)	NP_003277.1:n.1708-21C>A
NR_109889.1:n.711-14968G>T (PLCG1-AS1)
XM_011529032.1:c.1204-21C>A (TOP1)	XP_011527334.1:n.1204-21C>A
XM_011529033.1:c.970-21C>A (TOP1)	XP_011527335.1:n.970-21C>A
NM_003286.3:c.1708-21C>A (TOP1)	NP_003277.1:n.1708-21C>A
NM_003286.4:c.1708-21C>A (TOP1) MANE Select	NP_003277.1:n.1708-21C>A