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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	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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