Canonical Allele Identifier: CA362832409

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130737-A-C
• MyVariant Identifiers: chr6:g.18130968A>C (hg19) ; chr6:g.18130737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130737A>C , CM000668.2:g.18130737A>C	GRCh38
NC_000006.11:g.18130968A>C , CM000668.1:g.18130968A>C	GRCh37
NC_000006.10:g.18238947A>C	NCBI36
NG_012137.2:g.29407T>G
NG_012137.3:g.29407T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.669T>G MANE Select	ENSP00000312304.4:p.Phe223Leu
ENST00000309983.4:c.669T>G	ENSP00000312304.4:p.Phe223Leu
NM_000367.3:c.669T>G	NP_000358.1:p.Phe223Leu
XM_011514839.1:c.624T>G	XP_011513141.1:p.Phe208Leu
XM_011514840.1:c.600T>G	XP_011513142.1:p.Phe200Leu
NM_000367.4:c.669T>G	NP_000358.1:p.Phe223Leu
NM_001346817.1:c.669T>G	NP_001333746.1:p.Phe223Leu
NM_001346818.1:c.624T>G	NP_001333747.1:p.Phe208Leu
NM_000367.5:c.669T>G MANE Select	NP_000358.1:p.Phe223Leu