Canonical Allele Identifier: CA409021962

Gene: TOP1 PLCG1-AS1

Linked Data

• gnomAD v4: 20-41116386-A-G
• MyVariant Identifiers: chr20:g.39745026A>G (hg19) ; chr20:g.41116386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116386A>G , CM000682.2:g.41116386A>G	GRCh38
NC_000020.10:g.39745026A>G , CM000682.1:g.39745026A>G	GRCh37
NC_000020.9:g.39178440A>G	NCBI36
NG_012262.1:g.92565A>G
NG_012262.2:g.92565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1816A>G (TOP1) MANE Select	ENSP00000354522.2:p.Thr606Ala
ENST00000680945.1:c.409A>G (TOP1)	ENSP00000504935.1:p.Thr137Ala
ENST00000681058.1:n.6602A>G (TOP1)
ENST00000681113.1:c.*1511A>G (TOP1)	ENSP00000505788.1:n.*1511A>G
ENST00000681392.1:n.3124A>G (TOP1)
ENST00000681884.1:n.3078A>G (TOP1)
ENST00000361337.2:c.1816A>G (TOP1)	ENSP00000354522.2:p.Thr606Ala
NM_003286.2:c.1816A>G (TOP1)	NP_003277.1:p.Thr606Ala
NR_109889.1:n.711-15097T>C (PLCG1-AS1)
XM_011529032.1:c.1312A>G (TOP1)	XP_011527334.1:p.Thr438Ala
XM_011529033.1:c.1078A>G (TOP1)	XP_011527335.1:p.Thr360Ala
NM_003286.3:c.1816A>G (TOP1)	NP_003277.1:p.Thr606Ala
NM_003286.4:c.1816A>G (TOP1) MANE Select	NP_003277.1:p.Thr606Ala