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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: COL6A1 ENSG00000142156

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Description

collagen, type VI, alpha 1 [Source:HGNC Symbol;Acc:2211]

Gene Synonyms

OPLL

Location

Chromosome 21: 47,401,651-47,424,964 forward strand.

GRCh37:CM000683.1

About this gene

This gene has 6 transcripts (splice variants), 9 paralogues and is associated with 6 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000361866.3	COL6A1-001	4238	1028aa	ENSP00000355180.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13727	P12109 Q05BT9	NM_001848.2	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,
ENST00000498614.1	COL6A1-002	2358	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000486023.1	COL6A1-003	968	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463060.1	COL6A1-006	863	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000466285.1	COL6A1-005	500	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000492851.1	COL6A1-004	435	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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