Canonical Allele Identifier: CA122647
Gene: TPMT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18130762C>T
GRCh37 chr6:g.18130993C>T
Revel Score:
ENST00000309983 (MANE Select) 0.056
gnomAD v2:
6:18130993 C / T
gnomAD v3:
6:18130762 C / T
gnomAD v4:
chr6-18130762-C-T
Joint Max Group AF 0.02238752 (AFR)
Genomes Max Group AF 0.02208429 (AFR)
Exomes Max Group AF 0.02193516 (AFR)
ClinVar RCV:
RCV000013563
ClinVar Variation:
12726
dbSNP:
56161402
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18130762C>T , CM000668.2:g.18130762C>T GRCh38
NC_000006.11:g.18130993C>T , CM000668.1:g.18130993C>T GRCh37
NC_000006.10:g.18238972C>T NCBI36
NG_012137.2:g.29382G>A
NG_012137.3:g.29382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309983.5:c.644G>A MANE Select ENSP00000312304.4:p.Arg215His
ENST00000309983.4:c.644G>A ENSP00000312304.4:p.Arg215His
NM_000367.3:c.644G>A NP_000358.1:p.Arg215His
XM_011514839.1:c.599G>A XP_011513141.1:p.Arg200His
XM_011514840.1:c.575G>A XP_011513142.1:p.Arg192His
NM_000367.4:c.644G>A NP_000358.1:p.Arg215His
NM_001346817.1:c.644G>A NP_001333746.1:p.Arg215His
NM_001346818.1:c.599G>A NP_001333747.1:p.Arg200His
NM_000367.5:c.644G>A MANE Select NP_000358.1:p.Arg215His
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