Canonical Allele Identifier: CA409021967

Gene: TOP1 PLCG1-AS1

Linked Data

• gnomAD v4: 20-41116389-G-C
• MyVariant Identifiers: chr20:g.39745029G>C (hg19) ; chr20:g.41116389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116389G>C , CM000682.2:g.41116389G>C	GRCh38
NC_000020.10:g.39745029G>C , CM000682.1:g.39745029G>C	GRCh37
NC_000020.9:g.39178443G>C	NCBI36
NG_012262.1:g.92568G>C
NG_012262.2:g.92568G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1819G>C (TOP1) MANE Select	ENSP00000354522.2:p.Ala607Pro
ENST00000680945.1:c.412G>C (TOP1)	ENSP00000504935.1:p.Ala138Pro
ENST00000681058.1:n.6605G>C (TOP1)
ENST00000681113.1:c.*1514G>C (TOP1)	ENSP00000505788.1:n.*1514G>C
ENST00000681392.1:n.3127G>C (TOP1)
ENST00000681884.1:n.3081G>C (TOP1)
ENST00000361337.2:c.1819G>C (TOP1)	ENSP00000354522.2:p.Ala607Pro
NM_003286.2:c.1819G>C (TOP1)	NP_003277.1:p.Ala607Pro
NR_109889.1:n.711-15100C>G (PLCG1-AS1)
XM_011529032.1:c.1315G>C (TOP1)	XP_011527334.1:p.Ala439Pro
XM_011529033.1:c.1081G>C (TOP1)	XP_011527335.1:p.Ala361Pro
NM_003286.3:c.1819G>C (TOP1)	NP_003277.1:p.Ala607Pro
NM_003286.4:c.1819G>C (TOP1) MANE Select	NP_003277.1:p.Ala607Pro