Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
TPMT*2 238G>C Ala80Pro NM_000367.4:c.238G>C NP_000358.1:p.Ala80Pro rs1800462
TPMT*3A This allele contains 2 variants in cis: c.460G>A and c.719A>G
TPMT*3B 460G>A Ala154Thr NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr rs1800460
TPMT*3C 719A>G Tyr240Cys NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys rs1142345
TPMT*4 626-1G>A NM_000367.4:c.626-1G>A (Splice acceptor variant) rs1800584
TPMT*6 539A>TNM_000367.4:c.539A>TNP_000358.1:p.Tyr180Cys rs75543815
TPMT*7 681T>GNM_000367.4:c.681T>GNP_000358.1:p.His227Gln rs72552736
TPMT*8 644G>A NM_000367.4:c.644G>A NP_000358.1:p.Arg215His rs56161402
NUDT15*2 p.R139C
p.13_14GV[5]		 NM_018283.4:c.415C>T
NM_018283.4:c.38_43GAGTCG[4] 		NP_060753.1:p.Arg139Cys
NP_060753.1:p.13_14GV[5] 		rs116855232
rs746071566
NUDT15*3 p.R139C NM_018283.4:c.415C>T NP_060753.1:p.Arg139Cys rs116855232
NUDT15*4 p.R139H c.416G>A NM_018283.4:c.416G>A NP_060753.1:p.Arg139His rs147390019
NUDT15*5 Val18Ile NM_018283.4:c.52G>A NP_060753.1:p.Val18Ile rs186364861
NUDT15*6 p.13_14GV[4] NM_018283.4:c.38_43GAGTCG[2] NP_060753.1:p.13_14GV[4] rs746071566

Note: the p.R139C variant of NUDT15 is present on the NUDT15*2 and NUDT*3 alleles.

The TPMT Nomenclature Committee defines the nomenclature and numbering of novel TPMT variants.

Nomenclature for NUDT15 is available from the Pharmacogene Variation (PharmVar) Consortium.

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS)

From: Mercaptopurine Therapy and TPMT and NUDT15 Genotype

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Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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