Canonical Allele Identifier: CA565554990

Gene: TPMT

Linked Data

• dbSNP Id: rs1199564878
• gnomAD v2: 6-18130741-A-G
• gnomAD v3: 6-18130510-A-G
• gnomAD v4: 6-18130510-A-G
• MyVariant Identifiers: chr6:g.18130741A>G (hg19) ; chr6:g.18130510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130510A>G , CM000668.2:g.18130510A>G	GRCh38
NC_000006.11:g.18130741A>G , CM000668.1:g.18130741A>G	GRCh37
NC_000006.10:g.18238720A>G	NCBI36
NG_012137.2:g.29634T>C
NG_012137.3:g.29634T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.*158T>C MANE Select	ENSP00000312304.4:n.*158T>C
ENST00000309983.4:c.*158T>C	ENSP00000312304.4:n.*158T>C
NM_000367.3:c.*158T>C	NP_000358.1:n.*158T>C
XM_011514839.1:c.*158T>C	XP_011513141.1:n.*158T>C
XM_011514840.1:c.*158T>C	XP_011513142.1:n.*158T>C
NM_000367.4:c.*158T>C	NP_000358.1:n.*158T>C
NM_001346817.1:c.*158T>C	NP_001333746.1:n.*158T>C
NM_001346818.1:c.*158T>C	NP_001333747.1:n.*158T>C
NM_000367.5:c.*158T>C MANE Select	NP_000358.1:n.*158T>C