Canonical Allele Identifier: CA3650082
Gene: TPMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2262150
ClinVar RCV Id: RCV002773538
dbSNP Id: rs781105138
ExAC: 6:18130933 A / G
gnomAD v2: 6-18130933-A-G
gnomAD v4: 6-18130702-A-G
MyVariant Identifiers: chr6:g.18130933A>G (hg19) chr6:g.18130702A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130702A>G , CM000668.2:g.18130702A>G GRCh38
NC_000006.11:g.18130933A>G , CM000668.1:g.18130933A>G GRCh37
NC_000006.10:g.18238912A>G NCBI36
NG_012137.2:g.29442T>C
NG_012137.3:g.29442T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309983.5:c.704T>C MANE Select ENSP00000312304.4:p.Leu235Pro
ENST00000309983.4:c.704T>C ENSP00000312304.4:p.Leu235Pro
NM_000367.3:c.704T>C NP_000358.1:p.Leu235Pro
XM_011514839.1:c.659T>C XP_011513141.1:p.Leu220Pro
XM_011514840.1:c.635T>C XP_011513142.1:p.Leu212Pro
NM_000367.4:c.704T>C NP_000358.1:p.Leu235Pro
NM_001346817.1:c.704T>C NP_001333746.1:p.Leu235Pro
NM_001346818.1:c.659T>C NP_001333747.1:p.Leu220Pro
NM_000367.5:c.704T>C MANE Select NP_000358.1:p.Leu235Pro
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