Canonical Allele Identifier: CA645555684

Gene: TPMT

Linked Data

• gnomAD v4: 6-18143661-T-TA
• COSMIC: COSM273758

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18143667dup , CM000668.2:g.18143667dup	GRCh38
NC_000006.11:g.18143898dup , CM000668.1:g.18143898dup	GRCh37
NC_000006.10:g.18251877dup	NCBI36
NG_012137.2:g.16482dup
NG_012137.3:g.16482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.300dup MANE Select	ENSP00000312304.4:p.Thr101TyrfsTer22
ENST00000309983.4:c.300dup	ENSP00000312304.4:p.Thr101TyrfsTer22
NM_000367.3:c.300dup	NP_000358.1:p.Thr101TyrfsTer22
XM_011514839.1:c.300dup	XP_011513141.1:p.Thr101TyrfsTer22
XM_011514840.1:c.231dup	XP_011513142.1:p.Thr78TyrfsTer22
NM_000367.4:c.300dup	NP_000358.1:p.Thr101TyrfsTer22
NM_001346817.1:c.300dup	NP_001333746.1:p.Thr101TyrfsTer22
NM_001346818.1:c.300dup	NP_001333747.1:p.Thr101TyrfsTer22
NM_000367.5:c.300dup MANE Select	NP_000358.1:p.Thr101TyrfsTer22