Canonical Allele Identifier: CA362832227

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130942A>T (hg19) ; chr6:g.18130711A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130711A>T , CM000668.2:g.18130711A>T	GRCh38
NC_000006.11:g.18130942A>T , CM000668.1:g.18130942A>T	GRCh37
NC_000006.10:g.18238921A>T	NCBI36
NG_012137.2:g.29433T>A
NG_012137.3:g.29433T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.695T>A MANE Select	ENSP00000312304.4:p.Ile232Asn
ENST00000309983.4:c.695T>A	ENSP00000312304.4:p.Ile232Asn
NM_000367.3:c.695T>A	NP_000358.1:p.Ile232Asn
XM_011514839.1:c.650T>A	XP_011513141.1:p.Ile217Asn
XM_011514840.1:c.626T>A	XP_011513142.1:p.Ile209Asn
NM_000367.4:c.695T>A	NP_000358.1:p.Ile232Asn
NM_001346817.1:c.695T>A	NP_001333746.1:p.Ile232Asn
NM_001346818.1:c.650T>A	NP_001333747.1:p.Ile217Asn
NM_000367.5:c.695T>A MANE Select	NP_000358.1:p.Ile232Asn