Canonical Allele Identifier: CA362832202

Gene: TPMT

Linked Data

• dbSNP Id: rs1384789739
• gnomAD v2: 6-18130936-C-G
• gnomAD v3: 6-18130705-C-G
• gnomAD v4: 6-18130705-C-G
• MyVariant Identifiers: chr6:g.18130936C>G (hg19) ; chr6:g.18130705C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.701G>C MANE Select	ENSP00000312304.4:p.Cys234Ser
ENST00000309983.4:c.701G>C	ENSP00000312304.4:p.Cys234Ser
NM_000367.3:c.701G>C	NP_000358.1:p.Cys234Ser
XM_011514839.1:c.656G>C	XP_011513141.1:p.Cys219Ser
XM_011514840.1:c.632G>C	XP_011513142.1:p.Cys211Ser
NM_000367.4:c.701G>C	NP_000358.1:p.Cys234Ser
NM_001346817.1:c.701G>C	NP_001333746.1:p.Cys234Ser
NM_001346818.1:c.656G>C	NP_001333747.1:p.Cys219Ser
NM_000367.5:c.701G>C MANE Select	NP_000358.1:p.Cys234Ser