Canonical Allele Identifier: CA510555020

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs1373314759
• gnomAD v4: 20-41116283-T-C
• MyVariant Identifiers: chr20:g.39744923T>C (hg19) ; chr20:g.41116283T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116283T>C , CM000682.2:g.41116283T>C	GRCh38
NC_000020.10:g.39744923T>C , CM000682.1:g.39744923T>C	GRCh37
NC_000020.9:g.39178337T>C	NCBI36
NG_012262.1:g.92462T>C
NG_012262.2:g.92462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1713T>C (TOP1) MANE Select	ENSP00000354522.2:p.Gly571=
ENST00000680945.1:c.306T>C (TOP1)	ENSP00000504935.1:p.Gly102=
ENST00000681058.1:n.6499T>C (TOP1)
ENST00000681113.1:c.*1408T>C (TOP1)	ENSP00000505788.1:n.*1408T>C
ENST00000681392.1:n.3021T>C (TOP1)
ENST00000681884.1:n.2975T>C (TOP1)
ENST00000361337.2:c.1713T>C (TOP1)	ENSP00000354522.2:p.Gly571=
NM_003286.2:c.1713T>C (TOP1)	NP_003277.1:p.Gly571=
NR_109889.1:n.711-14994A>G (PLCG1-AS1)
XM_011529032.1:c.1209T>C (TOP1)	XP_011527334.1:p.Gly403=
XM_011529033.1:c.975T>C (TOP1)	XP_011527335.1:p.Gly325=
NM_003286.3:c.1713T>C (TOP1)	NP_003277.1:p.Gly571=
NM_003286.4:c.1713T>C (TOP1) MANE Select	NP_003277.1:p.Gly571=