Canonical Allele Identifier: CA9858317

Gene: TOP1 PLCG1-AS1

Linked Data

• dbSNP Id: rs769377336
• ExAC: 20:39745029 G / T
• gnomAD v2: 20-39745029-G-T
• gnomAD v4: 20-41116389-G-T
• MyVariant Identifiers: chr20:g.39745029G>T (hg19) ; chr20:g.41116389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41116389G>T , CM000682.2:g.41116389G>T	GRCh38
NC_000020.10:g.39745029G>T , CM000682.1:g.39745029G>T	GRCh37
NC_000020.9:g.39178443G>T	NCBI36
NG_012262.1:g.92568G>T
NG_012262.2:g.92568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361337.3:c.1819G>T (TOP1) MANE Select	ENSP00000354522.2:p.Ala607Ser
ENST00000680945.1:c.412G>T (TOP1)	ENSP00000504935.1:p.Ala138Ser
ENST00000681058.1:n.6605G>T (TOP1)
ENST00000681113.1:c.*1514G>T (TOP1)	ENSP00000505788.1:n.*1514G>T
ENST00000681392.1:n.3127G>T (TOP1)
ENST00000681884.1:n.3081G>T (TOP1)
ENST00000361337.2:c.1819G>T (TOP1)	ENSP00000354522.2:p.Ala607Ser
NM_003286.2:c.1819G>T (TOP1)	NP_003277.1:p.Ala607Ser
NR_109889.1:n.711-15100C>A (PLCG1-AS1)
XM_011529032.1:c.1315G>T (TOP1)	XP_011527334.1:p.Ala439Ser
XM_011529033.1:c.1081G>T (TOP1)	XP_011527335.1:p.Ala361Ser
NM_003286.3:c.1819G>T (TOP1)	NP_003277.1:p.Ala607Ser
NM_003286.4:c.1819G>T (TOP1) MANE Select	NP_003277.1:p.Ala607Ser