Canonical Allele Identifier: CA134961534

Gene: TPMT

Linked Data

• dbSNP Id: rs530958085
• gnomAD v3: 6-18130577-T-A
• gnomAD v4: 6-18130577-T-A
• MyVariant Identifiers: chr6:g.18130808T>A (hg19) ; chr6:g.18130577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130577T>A , CM000668.2:g.18130577T>A	GRCh38
NC_000006.11:g.18130808T>A , CM000668.1:g.18130808T>A	GRCh37
NC_000006.10:g.18238787T>A	NCBI36
NG_012137.2:g.29567A>T
NG_012137.3:g.29567A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.*91A>T MANE Select	ENSP00000312304.4:n.*91A>T
ENST00000309983.4:c.*91A>T	ENSP00000312304.4:n.*91A>T
NM_000367.3:c.*91A>T	NP_000358.1:n.*91A>T
XM_011514839.1:c.*91A>T	XP_011513141.1:n.*91A>T
XM_011514840.1:c.*91A>T	XP_011513142.1:n.*91A>T
NM_000367.4:c.*91A>T	NP_000358.1:n.*91A>T
NM_001346817.1:c.*91A>T	NP_001333746.1:n.*91A>T
NM_001346818.1:c.*91A>T	NP_001333747.1:n.*91A>T
NM_000367.5:c.*91A>T MANE Select	NP_000358.1:n.*91A>T