Canonical Allele Identifier: CA3650082

Gene: TPMT

Linked Data

• ClinVar Variation Id: 2262150
• ClinVar RCV Id: RCV002773538
• dbSNP Id: rs781105138
• ExAC: 6:18130933 A / G
• gnomAD v2: 6-18130933-A-G
• gnomAD v4: 6-18130702-A-G
• MyVariant Identifiers: chr6:g.18130933A>G (hg19) ; chr6:g.18130702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130702A>G , CM000668.2:g.18130702A>G	GRCh38
NC_000006.11:g.18130933A>G , CM000668.1:g.18130933A>G	GRCh37
NC_000006.10:g.18238912A>G	NCBI36
NG_012137.2:g.29442T>C
NG_012137.3:g.29442T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.704T>C MANE Select	ENSP00000312304.4:p.Leu235Pro
ENST00000309983.4:c.704T>C	ENSP00000312304.4:p.Leu235Pro
NM_000367.3:c.704T>C	NP_000358.1:p.Leu235Pro
XM_011514839.1:c.659T>C	XP_011513141.1:p.Leu220Pro
XM_011514840.1:c.635T>C	XP_011513142.1:p.Leu212Pro
NM_000367.4:c.704T>C	NP_000358.1:p.Leu235Pro
NM_001346817.1:c.704T>C	NP_001333746.1:p.Leu235Pro
NM_001346818.1:c.659T>C	NP_001333747.1:p.Leu220Pro
NM_000367.5:c.704T>C MANE Select	NP_000358.1:p.Leu235Pro