Canonical Allele Identifier: CA409021870

Gene: TOP1 PLCG1-AS1

Linked Data

• gnomAD v4: 20-41116345-A-G
• MyVariant Identifiers: chr20:g.39744985A>G (hg19) ; chr20:g.41116345A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116345A>G , CM000682.2:g.41116345A>G	GRCh38
NC_000020.10:g.39744985A>G , CM000682.1:g.39744985A>G	GRCh37
NC_000020.9:g.39178399A>G	NCBI36
NG_012262.1:g.92524A>G
NG_012262.2:g.92524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1775A>G (TOP1) MANE Select	ENSP00000354522.2:p.Tyr592Cys
ENST00000680945.1:c.368A>G (TOP1)	ENSP00000504935.1:p.Tyr123Cys
ENST00000681058.1:n.6561A>G (TOP1)
ENST00000681113.1:c.*1470A>G (TOP1)	ENSP00000505788.1:n.*1470A>G
ENST00000681392.1:n.3083A>G (TOP1)
ENST00000681884.1:n.3037A>G (TOP1)
ENST00000361337.2:c.1775A>G (TOP1)	ENSP00000354522.2:p.Tyr592Cys
NM_003286.2:c.1775A>G (TOP1)	NP_003277.1:p.Tyr592Cys
NR_109889.1:n.711-15056T>C (PLCG1-AS1)
XM_011529032.1:c.1271A>G (TOP1)	XP_011527334.1:p.Tyr424Cys
XM_011529033.1:c.1037A>G (TOP1)	XP_011527335.1:p.Tyr346Cys
NM_003286.3:c.1775A>G (TOP1)	NP_003277.1:p.Tyr592Cys
NM_003286.4:c.1775A>G (TOP1) MANE Select	NP_003277.1:p.Tyr592Cys