Canonical Allele Identifier: CA122646

Gene: TPMT

Linked Data

• ClinVar Variation Id: 12725
• ClinVar RCV Id: RCV000013562 ; RCV000396233
• dbSNP Id: rs1142345
• ExAC: 6:18130918 T / C
• gnomAD v2: 6-18130918-T-C
• gnomAD v3: 6-18130687-T-C
• gnomAD v4: 6-18130687-T-C
• MyVariant Identifiers: chr6:g.18130918T>C (hg19) ; chr6:g.18130687T>C (hg38)
• PubMed: PMID:8561894 ; PMID:9931345 ; PMID:9931346 ; PMID:10208641 ; PMID:10751626 ; PMID:15819814 ; PMID:16476125

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130687T>C , CM000668.2:g.18130687T>C	GRCh38
NC_000006.11:g.18130918T>C , CM000668.1:g.18130918T>C	GRCh37
NC_000006.10:g.18238897T>C	NCBI36
NG_012137.2:g.29457A>G
NG_012137.3:g.29457A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.719A>G MANE Select	ENSP00000312304.4:p.Tyr240Cys
ENST00000309983.4:c.719A>G	ENSP00000312304.4:p.Tyr240Cys
NM_000367.3:c.719A>G	NP_000358.1:p.Tyr240Cys
XM_011514839.1:c.674A>G	XP_011513141.1:p.Tyr225Cys
XM_011514840.1:c.650A>G	XP_011513142.1:p.Tyr217Cys
NM_000367.4:c.719A>G	NP_000358.1:p.Tyr240Cys
NM_001346817.1:c.719A>G	NP_001333746.1:p.Tyr240Cys
NM_001346818.1:c.674A>G	NP_001333747.1:p.Tyr225Cys
NM_000367.5:c.719A>G MANE Select	NP_000358.1:p.Tyr240Cys