Canonical Allele Identifier: CA362838457

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18143927A>G (hg19) ; chr6:g.18143696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18143696A>G , CM000668.2:g.18143696A>G	GRCh38
NC_000006.11:g.18143927A>G , CM000668.1:g.18143927A>G	GRCh37
NC_000006.10:g.18251906A>G	NCBI36
NG_012137.2:g.16448T>C
NG_012137.3:g.16448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.266T>C MANE Select	ENSP00000312304.4:p.Val89Ala
ENST00000309983.4:c.266T>C	ENSP00000312304.4:p.Val89Ala
NM_000367.3:c.266T>C	NP_000358.1:p.Val89Ala
XM_011514839.1:c.266T>C	XP_011513141.1:p.Val89Ala
XM_011514840.1:c.197T>C	XP_011513142.1:p.Val66Ala
NM_000367.4:c.266T>C	NP_000358.1:p.Val89Ala
NM_001346817.1:c.266T>C	NP_001333746.1:p.Val89Ala
NM_001346818.1:c.266T>C	NP_001333747.1:p.Val89Ala
NM_000367.5:c.266T>C MANE Select	NP_000358.1:p.Val89Ala