Canonical Allele Identifier: CA409021914

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs2034329454
• gnomAD v3: 20-41116365-C-T
• gnomAD v4: 20-41116365-C-T
• MyVariant Identifiers: chr20:g.39745005C>T (hg19) ; chr20:g.41116365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116365C>T , CM000682.2:g.41116365C>T	GRCh38
NC_000020.10:g.39745005C>T , CM000682.1:g.39745005C>T	GRCh37
NC_000020.9:g.39178419C>T	NCBI36
NG_012262.1:g.92544C>T
NG_012262.2:g.92544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1795C>T (TOP1) MANE Select	ENSP00000354522.2:p.Gln599Ter
ENST00000680945.1:c.388C>T (TOP1)	ENSP00000504935.1:p.Gln130Ter
ENST00000681058.1:n.6581C>T (TOP1)
ENST00000681113.1:c.*1490C>T (TOP1)	ENSP00000505788.1:n.*1490C>T
ENST00000681392.1:n.3103C>T (TOP1)
ENST00000681884.1:n.3057C>T (TOP1)
ENST00000361337.2:c.1795C>T (TOP1)	ENSP00000354522.2:p.Gln599Ter
NM_003286.2:c.1795C>T (TOP1)	NP_003277.1:p.Gln599Ter
NR_109889.1:n.711-15076G>A (PLCG1-AS1)
XM_011529032.1:c.1291C>T (TOP1)	XP_011527334.1:p.Gln431Ter
XM_011529033.1:c.1057C>T (TOP1)	XP_011527335.1:p.Gln353Ter
NM_003286.3:c.1795C>T (TOP1)	NP_003277.1:p.Gln599Ter
NM_003286.4:c.1795C>T (TOP1) MANE Select	NP_003277.1:p.Gln599Ter