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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: PYGL ENSG00000100504

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Description

phosphorylase, glycogen, liver [Source:HGNC Symbol;Acc:9725]

Gene Synonyms

GSD6

Location

Chromosome 14: 51,324,609-51,411,454 reverse strand.

GRCh37:CM000676.1

About this gene

This gene has 7 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000216392.7	PYGL-001	3048	847aa	ENSP00000216392.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32080	P06737	NM_002863.4	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000532462.1	PYGL-003	2711	819aa	ENSP00000431657.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PK47	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000544180.2	PYGL-002	2696	813aa	ENSP00000443787.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53894	P06737	NM_001163940.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000530336.2	PYGL-004	1459	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000553872.1	PYGL-010	746	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000532107.1	PYGL-006	684	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000528757.2	PYGL-011	426	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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