Canonical Allele Identifier: CA362838214

Gene: TPMT

Linked Data

• dbSNP Id: rs1784189914
• gnomAD v3: 6-18143631-G-A
• gnomAD v4: 6-18143631-G-A
• MyVariant Identifiers: chr6:g.18143862G>A (hg19) ; chr6:g.18143631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18143631G>A , CM000668.2:g.18143631G>A	GRCh38
NC_000006.11:g.18143862G>A , CM000668.1:g.18143862G>A	GRCh37
NC_000006.10:g.18251841G>A	NCBI36
NG_012137.2:g.16513C>T
NG_012137.3:g.16513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.331C>T MANE Select	ENSP00000312304.4:p.Pro111Ser
ENST00000309983.4:c.331C>T	ENSP00000312304.4:p.Pro111Ser
NM_000367.3:c.331C>T	NP_000358.1:p.Pro111Ser
XM_011514839.1:c.331C>T	XP_011513141.1:p.Pro111Ser
XM_011514840.1:c.262C>T	XP_011513142.1:p.Pro88Ser
NM_000367.4:c.331C>T	NP_000358.1:p.Pro111Ser
NM_001346817.1:c.331C>T	NP_001333746.1:p.Pro111Ser
NM_001346818.1:c.331C>T	NP_001333747.1:p.Pro111Ser
NM_000367.5:c.331C>T MANE Select	NP_000358.1:p.Pro111Ser