Canonical Allele Identifier: CA362832652

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130996A>C (hg19) ; chr6:g.18130765A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.641T>G MANE Select	ENSP00000312304.4:p.Ile214Arg
ENST00000309983.4:c.641T>G	ENSP00000312304.4:p.Ile214Arg
NM_000367.3:c.641T>G	NP_000358.1:p.Ile214Arg
XM_011514839.1:c.596T>G	XP_011513141.1:p.Ile199Arg
XM_011514840.1:c.572T>G	XP_011513142.1:p.Ile191Arg
NM_000367.4:c.641T>G	NP_000358.1:p.Ile214Arg
NM_001346817.1:c.641T>G	NP_001333746.1:p.Ile214Arg
NM_001346818.1:c.596T>G	NP_001333747.1:p.Ile199Arg
NM_000367.5:c.641T>G MANE Select	NP_000358.1:p.Ile214Arg