Canonical Allele Identifier: CA362832085

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130909G>A (hg19) ; chr6:g.18130678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130678G>A , CM000668.2:g.18130678G>A	GRCh38
NC_000006.11:g.18130909G>A , CM000668.1:g.18130909G>A	GRCh37
NC_000006.10:g.18238888G>A	NCBI36
NG_012137.2:g.29466C>T
NG_012137.3:g.29466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.728C>T MANE Select	ENSP00000312304.4:p.Thr243Ile
ENST00000309983.4:c.728C>T	ENSP00000312304.4:p.Thr243Ile
NM_000367.3:c.728C>T	NP_000358.1:p.Thr243Ile
XM_011514839.1:c.683C>T	XP_011513141.1:p.Thr228Ile
XM_011514840.1:c.659C>T	XP_011513142.1:p.Thr220Ile
NM_000367.4:c.728C>T	NP_000358.1:p.Thr243Ile
NM_001346817.1:c.728C>T	NP_001333746.1:p.Thr243Ile
NM_001346818.1:c.683C>T	NP_001333747.1:p.Thr228Ile
NM_000367.5:c.728C>T MANE Select	NP_000358.1:p.Thr243Ile