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 3 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
