Canonical Allele Identifier: CA083810
Community Standard Title: NM_003286.4(TOP1):c.[1598A>G;1748G=] (p.Asp533Gly)
Gene: TOP1 HGNC NCBI
PLCG1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.[41114115A>G;41116318G=] , CM000682.2:g.[41114115A>G;41116318G=] GRCh38
NC_000020.10:g.[39742755A>G;39744958G=] , CM000682.1:g.[39742755A>G;39744958G=] GRCh37
NC_000020.9:g.[39176169A>G;39178372G=] NCBI36
NG_012262.1:g.[90294A>G;92497G=]
NG_012262.2:g.[90294A>G;92497G=]

Transcript Alleles

HGVS Amino-acid Change
NM_003286.4:c.[1598A>G;1748G=] (TOP1) MANE Select NP_003277.1:p.[Asp533Gly;Gly583=]
ENST00000361337.3:c.[1598A>G;1748G=] (TOP1) MANE Select ENSP00000354522.2:p.[Asp533Gly;Gly583=]
NM_003286.2:c.[1598A>G;1748G=] (TOP1) NP_003277.1:p.[Asp533Gly;Gly583=]
NM_003286.3:c.[1598A>G;1748G=] (TOP1) NP_003277.1:p.[Asp533Gly;Gly583=]
NR_109889.1:n.[711-15029C=;711-12826T>C] (PLCG1-AS1)
ENST00000361337.2:c.[1598A>G;1748G=] (TOP1) ENSP00000354522.2:p.[Asp533Gly;Gly583=]
ENST00000680945.1:c.[191A>G;341G=] (TOP1) ENSP00000504935.1:p.[Asp64Gly;Gly114=]
ENST00000681058.1:n.[6384A>G;6534G=] (TOP1)
ENST00000681113.1:c.[*1293A>G;*1443G=] (TOP1) ENSP00000505788.1:n.[*1293A>G;*1443G=]
ENST00000681392.1:n.[2906A>G;3056G=] (TOP1)
ENST00000681884.1:n.[2860A>G;3010G=] (TOP1)
XM_011529032.1:c.[1094A>G;1244G=] (TOP1) XP_011527334.1:p.[Asp365Gly;Gly415=]
XM_011529033.1:c.[860A>G;1010G=] (TOP1) XP_011527335.1:p.[Asp287Gly;Gly337=]