Canonical Allele Identifier: CA362832088

Gene: TPMT

Linked Data

• dbSNP Id: rs1783923675
• gnomAD v3: 6-18130679-T-C
• gnomAD v4: 6-18130679-T-C
• MyVariant Identifiers: chr6:g.18130910T>C (hg19) ; chr6:g.18130679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130679T>C , CM000668.2:g.18130679T>C	GRCh38
NC_000006.11:g.18130910T>C , CM000668.1:g.18130910T>C	GRCh37
NC_000006.10:g.18238889T>C	NCBI36
NG_012137.2:g.29465A>G
NG_012137.3:g.29465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.727A>G MANE Select	ENSP00000312304.4:p.Thr243Ala
ENST00000309983.4:c.727A>G	ENSP00000312304.4:p.Thr243Ala
NM_000367.3:c.727A>G	NP_000358.1:p.Thr243Ala
XM_011514839.1:c.682A>G	XP_011513141.1:p.Thr228Ala
XM_011514840.1:c.658A>G	XP_011513142.1:p.Thr220Ala
NM_000367.4:c.727A>G	NP_000358.1:p.Thr243Ala
NM_001346817.1:c.727A>G	NP_001333746.1:p.Thr243Ala
NM_001346818.1:c.682A>G	NP_001333747.1:p.Thr228Ala
NM_000367.5:c.727A>G MANE Select	NP_000358.1:p.Thr243Ala