Canonical Allele Identifier: CA362832548
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130758A>C , CM000668.2:g.18130758A>C GRCh38
NC_000006.11:g.18130989A>C , CM000668.1:g.18130989A>C GRCh37
NC_000006.10:g.18238968A>C NCBI36
NG_012137.2:g.29386T>G
NG_012137.3:g.29386T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.648T>G MANE Select ENSP00000312304.4:p.Cys216Trp
ENST00000309983.4:c.648T>G ENSP00000312304.4:p.Cys216Trp
NM_000367.3:c.648T>G NP_000358.1:p.Cys216Trp
XM_011514839.1:c.603T>G XP_011513141.1:p.Cys201Trp
XM_011514840.1:c.579T>G XP_011513142.1:p.Cys193Trp
NM_000367.4:c.648T>G NP_000358.1:p.Cys216Trp
NM_001346817.1:c.648T>G NP_001333746.1:p.Cys216Trp
NM_001346818.1:c.603T>G NP_001333747.1:p.Cys201Trp
NM_000367.5:c.648T>G MANE Select NP_000358.1:p.Cys216Trp