Canonical Allele Identifier: CA214779

Gene: TPMT

Linked Data

• ClinVar Variation Id: 143913
• ClinVar RCV Id: RCV000133448 ; RCV003965083
• dbSNP Id: rs56019966
• ExAC: 6:18139272 C / T
• gnomAD v2: 6-18139272-C-T
• gnomAD v3: 6-18139041-C-T
• gnomAD v4: 6-18139041-C-T
• MyVariant Identifiers: chr6:g.18139272C>T (hg19) ; chr6:g.18139041C>T (hg38)
• PubMed: PMID:23400745

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139041C>T , CM000668.2:g.18139041C>T	GRCh38
NC_000006.11:g.18139272C>T , CM000668.1:g.18139272C>T	GRCh37
NC_000006.10:g.18247251C>T	NCBI36
NG_012137.2:g.21103G>A
NG_012137.3:g.21103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.420-4G>A MANE Select	ENSP00000312304.4:n.420-4G>A
ENST00000309983.4:c.420-4G>A	ENSP00000312304.4:n.420-4G>A
NM_000367.3:c.420-4G>A	NP_000358.1:n.420-4G>A
XM_011514839.1:c.420-4G>A	XP_011513141.1:n.420-4G>A
XM_011514840.1:c.351-4G>A	XP_011513142.1:n.351-4G>A
NM_000367.4:c.420-4G>A	NP_000358.1:n.420-4G>A
NM_001346817.1:c.420-4G>A	NP_001333746.1:n.420-4G>A
NM_001346818.1:c.420-4G>A	NP_001333747.1:n.420-4G>A
NM_000367.5:c.420-4G>A MANE Select	NP_000358.1:n.420-4G>A