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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: COL5A1 ENSG00000130635

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Description

collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]

Location

Chromosome 9: 137,533,620-137,736,686 forward strand.

GRCh37:CM000671.1

About this gene

This gene has 7 transcripts (splice variants), 17 paralogues and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371817.3	COL5A1-001	8468	1838aa	ENSP00000360882.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6982	P20908 Q59EE7 Q96HC0 Q9UML4	NM_001278074.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000371820.3	COL5A1-003	628	210aa	ENSP00000360885.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000464187.1	COL5A1-004	1830	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000469093.1	COL5A1-008	670	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463925.1	COL5A1-009	533	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460264.1	COL5A1-002	913	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000465877.1	COL5A1-007	583	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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