Canonical Allele Identifier: CA448765885

Gene: TPMT

Linked Data

• dbSNP Id: rs1249559832
• gnomAD v2: 6-18143950-G-A
• gnomAD v4: 6-18143719-G-A
• MyVariant Identifiers: chr6:g.18143950G>A (hg19) ; chr6:g.18143719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18143719G>A , CM000668.2:g.18143719G>A	GRCh38
NC_000006.11:g.18143950G>A , CM000668.1:g.18143950G>A	GRCh37
NC_000006.10:g.18251929G>A	NCBI36
NG_012137.2:g.16425C>T
NG_012137.3:g.16425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.243C>T MANE Select	ENSP00000312304.4:p.Asp81=
ENST00000309983.4:c.243C>T	ENSP00000312304.4:p.Asp81=
NM_000367.3:c.243C>T	NP_000358.1:p.Asp81=
XM_011514839.1:c.243C>T	XP_011513141.1:p.Asp81=
XM_011514840.1:c.174C>T	XP_011513142.1:p.Asp58=
NM_000367.4:c.243C>T	NP_000358.1:p.Asp81=
NM_001346817.1:c.243C>T	NP_001333746.1:p.Asp81=
NM_001346818.1:c.243C>T	NP_001333747.1:p.Asp81=
NM_000367.5:c.243C>T MANE Select	NP_000358.1:p.Asp81=