Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Gene Synonyms
OI4
Location
Chromosome 17: 48,260,650-48,278,993 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 13 transcripts (splice variants), 17 paralogues and is associated with 93 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000225964.5 | COL1A1-001 | 6727 | 1464aa | ENSP00000225964.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11561 | P02452 Q6LAN8 Q9UMA6 | NM_000088.3 | 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, |
| ENST00000507689.1 | COL1A1-013 | 549 | 154aa | ENSP00000460459.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | I3L3H7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000471344.1 | COL1A1-006 | 1192 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000510710.3 | COL1A1-018 | 1147 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000486572.1 | COL1A1-009 | 836 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000511732.1 | COL1A1-016 | 789 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000474644.1 | COL1A1-002 | 640 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000463440.1 | COL1A1-005 | 614 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000476387.1 | COL1A1-007 | 600 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000495677.1 | COL1A1-003 | 594 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000504289.1 | COL1A1-014 | 481 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000485870.1 | COL1A1-004 | 403 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000494334.1 | COL1A1-008 | 396 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
