Canonical Allele Identifier: CA744393829

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs1242855488
• gnomAD v4: 20-41116220-T-C
• MyVariant Identifiers: chr20:g.39744860T>C (hg19) ; chr20:g.41116220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116220T>C , CM000682.2:g.41116220T>C	GRCh38
NC_000020.10:g.39744860T>C , CM000682.1:g.39744860T>C	GRCh37
NC_000020.9:g.39178274T>C	NCBI36
NG_012262.1:g.92399T>C
NG_012262.2:g.92399T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361337.3:c.1708-58T>C (TOP1) MANE Select	ENSP00000354522.2:n.1708-58T>C
ENST00000680945.1:c.301-58T>C (TOP1)	ENSP00000504935.1:n.301-58T>C
ENST00000681058.1:n.6494-58T>C (TOP1)
ENST00000681113.1:c.*1403-58T>C (TOP1)	ENSP00000505788.1:n.*1403-58T>C
ENST00000681392.1:n.3016-58T>C (TOP1)
ENST00000681884.1:n.2970-58T>C (TOP1)
ENST00000361337.2:c.1708-58T>C (TOP1)	ENSP00000354522.2:n.1708-58T>C
NM_003286.2:c.1708-58T>C (TOP1)	NP_003277.1:n.1708-58T>C
NR_109889.1:n.711-14931A>G (PLCG1-AS1)
XM_011529032.1:c.1204-58T>C (TOP1)	XP_011527334.1:n.1204-58T>C
XM_011529033.1:c.970-58T>C (TOP1)	XP_011527335.1:n.970-58T>C
NM_003286.3:c.1708-58T>C (TOP1)	NP_003277.1:n.1708-58T>C
NM_003286.4:c.1708-58T>C (TOP1) MANE Select	NP_003277.1:n.1708-58T>C