Description
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 [Source:HGNC Symbol;Acc:1228]
Gene Synonyms
C1-INH, C1IN, C1INH, C1NH, HAE1, HAE2
Location
Chromosome 11: 57,364,860-57,382,326 forward strand.
GRCh37:CM000673.1
About this gene
This gene has 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000278407.4 | SERPING1-001 | 2002 | 500aa | ENSP00000278407.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS7962 | B4E1H2 B5MCB9 E9KL26 P05155 | NM_000062.2 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000403558.1 | SERPING1-002 | 2231 | 543aa | ENSP00000384420.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B5MCB9 C9JZJ9 E9PGN7 | NM_001032295.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000378324.2 | SERPING1-007 | 1751 | 448aa | ENSP00000367575.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E1H2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000378323.4 | SERPING1-005 | 1733 | 505aa | ENSP00000367574.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E1F0 B4E1H2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000340687.6 | SERPING1-006 | 1719 | 463aa | ENSP00000341861.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B5MCB9 H9KV48 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000405496.1 | SERPING1-004 | 648 | 160aa | ENSP00000384561.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B5MCB9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000457869.1 | SERPING1-003 | 569 | 122aa | ENSP00000399746.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JZJ9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000531133.1 | SERPING1-008 | 1004 | 43aa | ENSP00000435431.1 | Nonsense mediated decay | E9PK97 | - | - | |
| ENST00000528996.1 | SERPING1-011 | 956 | 86aa | ENSP00000431226.1 | Nonsense mediated decay | H0YCA1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000531797.1 | SERPING1-009 | 907 | 43aa | ENSP00000432554.1 | Nonsense mediated decay | E9PK97 | - | - | |
| ENST00000531605.1 | SERPING1-010 | 579 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000530113.1 | SERPING1-012 | 908 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
