Canonical Allele Identifier: CA134961527

Gene: TPMT

Linked Data

• dbSNP Id: rs1048955293
• gnomAD v3: 6-18130500-CTT-C
• gnomAD v4: 6-18130500-CTT-C
• MyVariant Identifiers: chr6:g.18130732_18130733del (hg19) ; chr6:g.18130501_18130502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130505_18130506del , CM000668.2:g.18130505_18130506del	GRCh38
NC_000006.11:g.18130736_18130737del , CM000668.1:g.18130736_18130737del	GRCh37
NC_000006.10:g.18238715_18238716del	NCBI36
NG_012137.2:g.29642_29643del
NG_012137.3:g.29642_29643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.*166_*167del MANE Select	ENSP00000312304.4:n.*166_*167del
ENST00000309983.4:c.*166_*167del	ENSP00000312304.4:n.*166_*167del
NM_000367.3:c.*166_*167del	NP_000358.1:n.*166_*167del
XM_011514839.1:c.*166_*167del	XP_011513141.1:n.*166_*167del
XM_011514840.1:c.*166_*167del	XP_011513142.1:n.*166_*167del
NM_000367.4:c.*166_*167del	NP_000358.1:n.*166_*167del
NM_001346817.1:c.*166_*167del	NP_001333746.1:n.*166_*167del
NM_001346818.1:c.*166_*167del	NP_001333747.1:n.*166_*167del
NM_000367.5:c.*166_*167del MANE Select	NP_000358.1:n.*166_*167del