Canonical Allele Identifier: CA134961548
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs1142345

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.719A>C MANE Select ENSP00000312304.4:p.Tyr240Ser
ENST00000309983.4:c.719A>C ENSP00000312304.4:p.Tyr240Ser
NM_000367.3:c.719A>C NP_000358.1:p.Tyr240Ser
XM_011514839.1:c.674A>C XP_011513141.1:p.Tyr225Ser
XM_011514840.1:c.650A>C XP_011513142.1:p.Tyr217Ser
NM_000367.4:c.719A>C NP_000358.1:p.Tyr240Ser
NM_001346817.1:c.719A>C NP_001333746.1:p.Tyr240Ser
NM_001346818.1:c.674A>C NP_001333747.1:p.Tyr225Ser
NM_000367.5:c.719A>C MANE Select NP_000358.1:p.Tyr240Ser