Canonical Allele Identifier: CA448764665
Gene: TPMT HGNC NCBI

Linked Data

dbSNP Id: rs2150707327
gnomAD v4: 6-18130689-T-C
MyVariant Identifiers: chr6:g.18130920T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130689T>C , CM000668.2:g.18130689T>C GRCh38
NC_000006.11:g.18130920T>C , CM000668.1:g.18130920T>C GRCh37
NC_000006.10:g.18238899T>C NCBI36
NG_012137.2:g.29455A>G
NG_012137.3:g.29455A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.717A>G MANE Select ENSP00000312304.4:p.Leu239=
ENST00000309983.4:c.717A>G ENSP00000312304.4:p.Leu239=
NM_000367.3:c.717A>G NP_000358.1:p.Leu239=
XM_011514839.1:c.672A>G XP_011513141.1:p.Leu224=
XM_011514840.1:c.648A>G XP_011513142.1:p.Leu216=
NM_000367.4:c.717A>G NP_000358.1:p.Leu239=
NM_001346817.1:c.717A>G NP_001333746.1:p.Leu239=
NM_001346818.1:c.672A>G NP_001333747.1:p.Leu224=
NM_000367.5:c.717A>G MANE Select NP_000358.1:p.Leu239=