Canonical Allele Identifier: CA362832238

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130945C>T (hg19) ; chr6:g.18130714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130714C>T , CM000668.2:g.18130714C>T	GRCh38
NC_000006.11:g.18130945C>T , CM000668.1:g.18130945C>T	GRCh37
NC_000006.10:g.18238924C>T	NCBI36
NG_012137.2:g.29430G>A
NG_012137.3:g.29430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.692G>A MANE Select	ENSP00000312304.4:p.Gly231Glu
ENST00000309983.4:c.692G>A	ENSP00000312304.4:p.Gly231Glu
NM_000367.3:c.692G>A	NP_000358.1:p.Gly231Glu
XM_011514839.1:c.647G>A	XP_011513141.1:p.Gly216Glu
XM_011514840.1:c.623G>A	XP_011513142.1:p.Gly208Glu
NM_000367.4:c.692G>A	NP_000358.1:p.Gly231Glu
NM_001346817.1:c.692G>A	NP_001333746.1:p.Gly231Glu
NM_001346818.1:c.647G>A	NP_001333747.1:p.Gly216Glu
NM_000367.5:c.692G>A MANE Select	NP_000358.1:p.Gly231Glu