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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: PGM1 ENSG00000079739

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Description

phosphoglucomutase 1 [Source:HGNC Symbol;Acc:8905]

Gene Synonyms

CDG1T, GSD14

Location

Chromosome 1: 64,058,947-64,125,916 forward strand.

GRCh37:CM000663.1

About this gene

This gene has 5 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371083.4	PGM1-002	2657	580aa	ENSP00000360124.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53323	P36871	NM_001172818.1	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000371084.3	PGM1-001	2472	562aa	ENSP00000360125.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS625	P36871	NM_002633.2	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000540265.1	PGM1-201	2345	365aa	ENSP00000443449.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53324	P36871	NM_001172819.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000483707.1	PGM1-004	612	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473117.2	PGM1-003	373	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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