Canonical Allele Identifier: CA9858315

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs776349546
• ExAC: 20:39745002 C / T
• gnomAD v2: 20-39745002-C-T
• gnomAD v4: 20-41116362-C-T
• MyVariant Identifiers: chr20:g.39745002C>T (hg19) ; chr20:g.41116362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116362C>T , CM000682.2:g.41116362C>T	GRCh38
NC_000020.10:g.39745002C>T , CM000682.1:g.39745002C>T	GRCh37
NC_000020.9:g.39178416C>T	NCBI36
NG_012262.1:g.92541C>T
NG_012262.2:g.92541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1792C>T (TOP1) MANE Select	ENSP00000354522.2:p.Leu598=
ENST00000680945.1:c.385C>T (TOP1)	ENSP00000504935.1:p.Leu129=
ENST00000681058.1:n.6578C>T (TOP1)
ENST00000681113.1:c.*1487C>T (TOP1)	ENSP00000505788.1:n.*1487C>T
ENST00000681392.1:n.3100C>T (TOP1)
ENST00000681884.1:n.3054C>T (TOP1)
ENST00000361337.2:c.1792C>T (TOP1)	ENSP00000354522.2:p.Leu598=
NM_003286.2:c.1792C>T (TOP1)	NP_003277.1:p.Leu598=
NR_109889.1:n.711-15073G>A (PLCG1-AS1)
XM_011529032.1:c.1288C>T (TOP1)	XP_011527334.1:p.Leu430=
XM_011529033.1:c.1054C>T (TOP1)	XP_011527335.1:p.Leu352=
NM_003286.3:c.1792C>T (TOP1)	NP_003277.1:p.Leu598=
NM_003286.4:c.1792C>T (TOP1) MANE Select	NP_003277.1:p.Leu598=