Canonical Allele Identifier: CA256472
Gene: TGM1 HGNC NCBI
COSMIC:
COSM4987507 (not active)
MyVariant.info:
GRCh38 chr14:g.24255457C>T
GRCh37 chr14:g.24724663C>T
Revel Score:
ENST00000206765 (MANE Select) 0.372
ENST00000544573 0.372
gnomAD v2:
14:24724663 C / T
gnomAD v3:
14:24255457 C / T
gnomAD v4:
chr14-24255457-C-T
Joint Max Group AF 0.01919702 (NFE)
Genomes Max Group AF 0.01768939 (NFE)
Exomes Max Group AF 0.01924405 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255457C>T , CM000676.2:g.24255457C>T GRCh38
NC_000014.8:g.24724663C>T , CM000676.1:g.24724663C>T GRCh37
NC_000014.7:g.23794503C>T NCBI36
NG_007150.1:g.12710G>A
NG_007150.2:g.12710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1552G>A MANE Select ENSP00000206765.6:p.Val518Met
ENST00000206765.10:c.1552G>A ENSP00000206765.6:p.Val518Met
ENST00000544573.5:c.226G>A ENSP00000439446.1:p.Val76Met
ENST00000559136.1:c.625G>A ENSP00000453337.1:p.Val209Met
NM_000359.2:c.1552G>A NP_000350.1:p.Val518Met
NM_000359.3:c.1552G>A MANE Select NP_000350.1:p.Val518Met
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