Description
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 [Source:HGNC Symbol;Acc:8941]
Gene Synonyms
A1A, A1AT, AAT, PI, PI1, PRO2275, alpha-1-antitrypsin, alpha1AT
Location
Chromosome 14: 94,843,084-94,857,030 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 19 transcripts (splice variants), 13 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000448921.1 | SERPINA1-203 | 3532 | 418aa | ENSP00000416066.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | NM_001127705.1 | 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, |
| ENST00000437397.1 | SERPINA1-202 | 3340 | 418aa | ENSP00000408474.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | NM_001127707.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000355814.4 | SERPINA1-201 | 3236 | 418aa | ENSP00000348068.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | NM_001127700.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000440909.1 | SERPINA1-001 | 3144 | 418aa | ENSP00000390299.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000393088.4 | SERPINA1-002 | 1885 | 418aa | ENSP00000376803.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000404814.4 | SERPINA1-003 | 1628 | 418aa | ENSP00000385960.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000393087.4 | SERPINA1-004 | 1622 | 418aa | ENSP00000376802.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | NM_000295.4 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000449399.3 | SERPINA1-008 | 1559 | 418aa | ENSP00000416354.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9925 | A6YP93 E9KL23 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000402629.1 | SERPINA1-006 | 1450 | 359aa | ENSP00000386094.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6YP93 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000557492.1 | SERPINA1-007 | 951 | 144aa | ENSP00000452452.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V387 G3V4I7 G3V5R8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000556091.1 | SERPINA1-017 | 643 | 156aa | ENSP00000452169.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V387 G3V4I7 G3V544 G3V5R8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000557118.1 | SERPINA1-010 | 583 | 22aa | ENSP00000451826.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4I7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000553327.1 | SERPINA1-015 | 581 | 92aa | ENSP00000452480.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4I7 G3V5R8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000556955.1 | SERPINA1-011 | 571 | 117aa | ENSP00000451098.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V387 G3V4I7 G3V5R8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000554720.1 | SERPINA1-016 | 446 | 105aa | ENSP00000450561.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000489769.1 | SERPINA1-005 | 1562 | 306aa | ENSP00000451525.1 | Nonsense mediated decay | A6YP93 G3V2B9 G3V387 G3V4I7 G3V544 G3V5R8 P01009 Q3I0J7 | - | - | |
| ENST00000555289.1 | SERPINA1-014 | 609 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557093.1 | SERPINA1-012 | 568 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557361.1 | SERPINA1-013 | 580 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
