Canonical Allele Identifier: CA362832205

Gene: TPMT

Linked Data

• gnomAD v4: 6-18130705-C-A
• MyVariant Identifiers: chr6:g.18130936C>A (hg19) ; chr6:g.18130705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130705C>A , CM000668.2:g.18130705C>A	GRCh38
NC_000006.11:g.18130936C>A , CM000668.1:g.18130936C>A	GRCh37
NC_000006.10:g.18238915C>A	NCBI36
NG_012137.2:g.29439G>T
NG_012137.3:g.29439G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.701G>T MANE Select	ENSP00000312304.4:p.Cys234Phe
ENST00000309983.4:c.701G>T	ENSP00000312304.4:p.Cys234Phe
NM_000367.3:c.701G>T	NP_000358.1:p.Cys234Phe
XM_011514839.1:c.656G>T	XP_011513141.1:p.Cys219Phe
XM_011514840.1:c.632G>T	XP_011513142.1:p.Cys211Phe
NM_000367.4:c.701G>T	NP_000358.1:p.Cys234Phe
NM_001346817.1:c.701G>T	NP_001333746.1:p.Cys234Phe
NM_001346818.1:c.656G>T	NP_001333747.1:p.Cys219Phe
NM_000367.5:c.701G>T MANE Select	NP_000358.1:p.Cys234Phe