Canonical Allele Identifier: CA3650236

Gene: TPMT

Linked Data

• dbSNP Id: rs753105368
• ExAC: 6:18143872 G / C
• gnomAD v2: 6-18143872-G-C
• MyVariant Identifiers: chr6:g.18143872G>C (hg19) ; chr6:g.18143641G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18143641G>C , CM000668.2:g.18143641G>C	GRCh38
NC_000006.11:g.18143872G>C , CM000668.1:g.18143872G>C	GRCh37
NC_000006.10:g.18251851G>C	NCBI36
NG_012137.2:g.16503C>G
NG_012137.3:g.16503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.321C>G MANE Select	ENSP00000312304.4:p.Tyr107Ter
ENST00000309983.4:c.321C>G	ENSP00000312304.4:p.Tyr107Ter
NM_000367.3:c.321C>G	NP_000358.1:p.Tyr107Ter
XM_011514839.1:c.321C>G	XP_011513141.1:p.Tyr107Ter
XM_011514840.1:c.252C>G	XP_011513142.1:p.Tyr84Ter
NM_000367.4:c.321C>G	NP_000358.1:p.Tyr107Ter
NM_001346817.1:c.321C>G	NP_001333746.1:p.Tyr107Ter
NM_001346818.1:c.321C>G	NP_001333747.1:p.Tyr107Ter
NM_000367.5:c.321C>G MANE Select	NP_000358.1:p.Tyr107Ter