Canonical Allele Identifier: CA362832688

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130766-T-C
• MyVariant Identifiers: chr6:g.18130997T>C (hg19) ; chr6:g.18130766T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.640A>G MANE Select	ENSP00000312304.4:p.Ile214Val
ENST00000309983.4:c.640A>G	ENSP00000312304.4:p.Ile214Val
NM_000367.3:c.640A>G	NP_000358.1:p.Ile214Val
XM_011514839.1:c.595A>G	XP_011513141.1:p.Ile199Val
XM_011514840.1:c.571A>G	XP_011513142.1:p.Ile191Val
NM_000367.4:c.640A>G	NP_000358.1:p.Ile214Val
NM_001346817.1:c.640A>G	NP_001333746.1:p.Ile214Val
NM_001346818.1:c.595A>G	NP_001333747.1:p.Ile199Val
NM_000367.5:c.640A>G MANE Select	NP_000358.1:p.Ile214Val