Canonical Allele Identifier: CA362832667

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130765-A-G
• MyVariant Identifiers: chr6:g.18130996A>G (hg19) ; chr6:g.18130765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130765A>G , CM000668.2:g.18130765A>G	GRCh38
NC_000006.11:g.18130996A>G , CM000668.1:g.18130996A>G	GRCh37
NC_000006.10:g.18238975A>G	NCBI36
NG_012137.2:g.29379T>C
NG_012137.3:g.29379T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.641T>C MANE Select	ENSP00000312304.4:p.Ile214Thr
ENST00000309983.4:c.641T>C	ENSP00000312304.4:p.Ile214Thr
NM_000367.3:c.641T>C	NP_000358.1:p.Ile214Thr
XM_011514839.1:c.596T>C	XP_011513141.1:p.Ile199Thr
XM_011514840.1:c.572T>C	XP_011513142.1:p.Ile191Thr
NM_000367.4:c.641T>C	NP_000358.1:p.Ile214Thr
NM_001346817.1:c.641T>C	NP_001333746.1:p.Ile214Thr
NM_001346818.1:c.596T>C	NP_001333747.1:p.Ile199Thr
NM_000367.5:c.641T>C MANE Select	NP_000358.1:p.Ile214Thr