Canonical Allele Identifier: CA362832683

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130997T>A (hg19) ; chr6:g.18130766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130766T>A , CM000668.2:g.18130766T>A	GRCh38
NC_000006.11:g.18130997T>A , CM000668.1:g.18130997T>A	GRCh37
NC_000006.10:g.18238976T>A	NCBI36
NG_012137.2:g.29378A>T
NG_012137.3:g.29378A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.640A>T MANE Select	ENSP00000312304.4:p.Ile214Leu
ENST00000309983.4:c.640A>T	ENSP00000312304.4:p.Ile214Leu
NM_000367.3:c.640A>T	NP_000358.1:p.Ile214Leu
XM_011514839.1:c.595A>T	XP_011513141.1:p.Ile199Leu
XM_011514840.1:c.571A>T	XP_011513142.1:p.Ile191Leu
NM_000367.4:c.640A>T	NP_000358.1:p.Ile214Leu
NM_001346817.1:c.640A>T	NP_001333746.1:p.Ile214Leu
NM_001346818.1:c.595A>T	NP_001333747.1:p.Ile199Leu
NM_000367.5:c.640A>T MANE Select	NP_000358.1:p.Ile214Leu