Canonical Allele Identifier: CA409021878

Gene: TOP1 PLCG1-AS1

Linked Data

• gnomAD v4: 20-41116348-A-C
• MyVariant Identifiers: chr20:g.39744988A>C (hg19) ; chr20:g.41116348A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116348A>C , CM000682.2:g.41116348A>C	GRCh38
NC_000020.10:g.39744988A>C , CM000682.1:g.39744988A>C	GRCh37
NC_000020.9:g.39178402A>C	NCBI36
NG_012262.1:g.92527A>C
NG_012262.2:g.92527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1778A>C (TOP1) MANE Select	ENSP00000354522.2:p.Asn593Thr
ENST00000680945.1:c.371A>C (TOP1)	ENSP00000504935.1:p.Asn124Thr
ENST00000681058.1:n.6564A>C (TOP1)
ENST00000681113.1:c.*1473A>C (TOP1)	ENSP00000505788.1:n.*1473A>C
ENST00000681392.1:n.3086A>C (TOP1)
ENST00000681884.1:n.3040A>C (TOP1)
ENST00000361337.2:c.1778A>C (TOP1)	ENSP00000354522.2:p.Asn593Thr
NM_003286.2:c.1778A>C (TOP1)	NP_003277.1:p.Asn593Thr
NR_109889.1:n.711-15059T>G (PLCG1-AS1)
XM_011529032.1:c.1274A>C (TOP1)	XP_011527334.1:p.Asn425Thr
XM_011529033.1:c.1040A>C (TOP1)	XP_011527335.1:p.Asn347Thr
NM_003286.3:c.1778A>C (TOP1)	NP_003277.1:p.Asn593Thr
NM_003286.4:c.1778A>C (TOP1) MANE Select	NP_003277.1:p.Asn593Thr