Canonical Allele Identifier: CA122646
Gene: TPMT HGNC NCBI

Linked Data

ClinVar Variation Id: 12725
dbSNP Id: rs1142345

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130687T>C , CM000668.2:g.18130687T>C GRCh38
NC_000006.11:g.18130918T>C , CM000668.1:g.18130918T>C GRCh37
NC_000006.10:g.18238897T>C NCBI36
NG_012137.2:g.29457A>G
NG_012137.3:g.29457A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.719A>G MANE Select ENSP00000312304.4:p.Tyr240Cys
ENST00000309983.4:c.719A>G ENSP00000312304.4:p.Tyr240Cys
NM_000367.3:c.719A>G NP_000358.1:p.Tyr240Cys
XM_011514839.1:c.674A>G XP_011513141.1:p.Tyr225Cys
XM_011514840.1:c.650A>G XP_011513142.1:p.Tyr217Cys
NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys
NM_001346817.1:c.719A>G NP_001333746.1:p.Tyr240Cys
NM_001346818.1:c.674A>G NP_001333747.1:p.Tyr225Cys
NM_000367.5:c.719A>G MANE Select NP_000358.1:p.Tyr240Cys