Canonical Allele Identifier: CA822712222

Gene: TPMT

Linked Data

• dbSNP Id: rs1339133058
• gnomAD v3: 6-18130507-A-T
• gnomAD v4: 6-18130507-A-T
• MyVariant Identifiers: chr6:g.18130738A>T (hg19) ; chr6:g.18130507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130507A>T , CM000668.2:g.18130507A>T	GRCh38
NC_000006.11:g.18130738A>T , CM000668.1:g.18130738A>T	GRCh37
NC_000006.10:g.18238717A>T	NCBI36
NG_012137.2:g.29637T>A
NG_012137.3:g.29637T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.*161T>A MANE Select	ENSP00000312304.4:n.*161T>A
ENST00000309983.4:c.*161T>A	ENSP00000312304.4:n.*161T>A
NM_000367.3:c.*161T>A	NP_000358.1:n.*161T>A
XM_011514839.1:c.*161T>A	XP_011513141.1:n.*161T>A
XM_011514840.1:c.*161T>A	XP_011513142.1:n.*161T>A
NM_000367.4:c.*161T>A	NP_000358.1:n.*161T>A
NM_001346817.1:c.*161T>A	NP_001333746.1:n.*161T>A
NM_001346818.1:c.*161T>A	NP_001333747.1:n.*161T>A
NM_000367.5:c.*161T>A MANE Select	NP_000358.1:n.*161T>A