Canonical Allele Identifier: CA409021766

Gene: TOP1 PLCG1-AS1

Linked Data

• MyVariant Identifiers: chr20:g.39744940T>A (hg19) ; chr20:g.41116300T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116300T>A , CM000682.2:g.41116300T>A	GRCh38
NC_000020.10:g.39744940T>A , CM000682.1:g.39744940T>A	GRCh37
NC_000020.9:g.39178354T>A	NCBI36
NG_012262.1:g.92479T>A
NG_012262.2:g.92479T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1730T>A (TOP1) MANE Select	ENSP00000354522.2:p.Leu577His
ENST00000680945.1:c.323T>A (TOP1)	ENSP00000504935.1:p.Leu108His
ENST00000681058.1:n.6516T>A (TOP1)
ENST00000681113.1:c.*1425T>A (TOP1)	ENSP00000505788.1:n.*1425T>A
ENST00000681392.1:n.3038T>A (TOP1)
ENST00000681884.1:n.2992T>A (TOP1)
ENST00000361337.2:c.1730T>A (TOP1)	ENSP00000354522.2:p.Leu577His
NM_003286.2:c.1730T>A (TOP1)	NP_003277.1:p.Leu577His
NR_109889.1:n.711-15011A>T (PLCG1-AS1)
XM_011529032.1:c.1226T>A (TOP1)	XP_011527334.1:p.Leu409His
XM_011529033.1:c.992T>A (TOP1)	XP_011527335.1:p.Leu331His
NM_003286.3:c.1730T>A (TOP1)	NP_003277.1:p.Leu577His
NM_003286.4:c.1730T>A (TOP1) MANE Select	NP_003277.1:p.Leu577His