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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000378324.2 | SERPING1-007 | 1751 | 448aa | ENSP00000367575.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E1H2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000378323.4 | SERPING1-005 | 1733 | 505aa | ENSP00000367574.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E1F0 B4E1H2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000340687.6 | SERPING1-006 | 1719 | 463aa | ENSP00000341861.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B5MCB9 H9KV48 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
