Canonical Allele Identifier: CA362832137
Gene: TPMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130691A>T , CM000668.2:g.18130691A>T GRCh38
NC_000006.11:g.18130922A>T , CM000668.1:g.18130922A>T GRCh37
NC_000006.10:g.18238901A>T NCBI36
NG_012137.2:g.29453T>A
NG_012137.3:g.29453T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.715T>A MANE Select ENSP00000312304.4:p.Leu239Ile
ENST00000309983.4:c.715T>A ENSP00000312304.4:p.Leu239Ile
NM_000367.3:c.715T>A NP_000358.1:p.Leu239Ile
XM_011514839.1:c.670T>A XP_011513141.1:p.Leu224Ile
XM_011514840.1:c.646T>A XP_011513142.1:p.Leu216Ile
NM_000367.4:c.715T>A NP_000358.1:p.Leu239Ile
NM_001346817.1:c.715T>A NP_001333746.1:p.Leu239Ile
NM_001346818.1:c.670T>A NP_001333747.1:p.Leu224Ile
NM_000367.5:c.715T>A MANE Select NP_000358.1:p.Leu239Ile