Canonical Allele Identifier: CA362832538

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130988G>A (hg19) ; chr6:g.18130757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130757G>A , CM000668.2:g.18130757G>A	GRCh38
NC_000006.11:g.18130988G>A , CM000668.1:g.18130988G>A	GRCh37
NC_000006.10:g.18238967G>A	NCBI36
NG_012137.2:g.29387C>T
NG_012137.3:g.29387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.649C>T MANE Select	ENSP00000312304.4:p.Leu217Phe
ENST00000309983.4:c.649C>T	ENSP00000312304.4:p.Leu217Phe
NM_000367.3:c.649C>T	NP_000358.1:p.Leu217Phe
XM_011514839.1:c.604C>T	XP_011513141.1:p.Leu202Phe
XM_011514840.1:c.580C>T	XP_011513142.1:p.Leu194Phe
NM_000367.4:c.649C>T	NP_000358.1:p.Leu217Phe
NM_001346817.1:c.649C>T	NP_001333746.1:p.Leu217Phe
NM_001346818.1:c.604C>T	NP_001333747.1:p.Leu202Phe
NM_000367.5:c.649C>T MANE Select	NP_000358.1:p.Leu217Phe