Description
presenilin 1 [Source:HGNC Symbol;Acc:9508]
Gene Synonyms
AD3, FAD, PS-1, PS1, PSNL1, S182
Location
Chromosome 14: 73,614,728-73,685,997 forward strand.
About this transcript
This transcript has 9 exons, is annotated with 25 domains and features, is associated with 32023 variant alleles and maps to 507 oligo probes.
Gene
This transcript is a product of gene ENSG00000080815.14 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000324501.5 | PSEN1-001 | 6078 | 467aa | ENSP00000326366.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9812 | E7ES96 G3V2G7 G3V4M0 G3V4P4 P49768 | NM_007318.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000406768.1 | PSEN1-005 | 4062 | 375aa | ENSP00000385948.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ES96 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000394164.1 | PSEN1-003 | 3046 | 463aa | ENSP00000377719.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9813 | E7ES96 G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000344094.3 | PSEN1-202 | 2856 | 378aa | ENSP00000339523.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000357710.4 | PSEN1-002 | 2776 | 463aa | ENSP00000350342.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9813 | E7ES96 G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000261970.3 | PSEN1-201 | 2590 | 409aa | ENSP00000261970.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000394157.3 | PSEN1-004 | 1249 | 184aa | ENSP00000377712.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000557511.1 | PSEN1-027 | 1230 | 409aa | ENSP00000451429.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 P49768 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000555254.1 | PSEN1-021 | 754 | 155aa | ENSP00000450652.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2G7 G3V4M0 G3V4P4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000553719.1 | PSEN1-016 | 712 | 147aa | ENSP00000451674.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000560005.2 | PSEN1-028 | 699 | 109aa | ENSP00000453466.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 H0YM52 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556066.1 | PSEN1-011 | 612 | 58aa | ENSP00000452267.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000553599.1 | PSEN1-012 | 591 | 91aa | ENSP00000452477.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000554131.1 | PSEN1-020 | 591 | 109aa | ENSP00000451915.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4M0 G3V4P4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000557293.1 | PSEN1-015 | 576 | 99aa | ENSP00000451880.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V4M0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556864.1 | PSEN1-007 | 574 | 63aa | ENSP00000451588.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3P0 G3V449 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000557356.1 | PSEN1-013 | 571 | 135aa | ENSP00000451498.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V519 G3V5B1 H0YM52 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000557037.1 | PSEN1-008 | 555 | 62aa | ENSP00000451347.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3P0 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556951.1 | PSEN1-014 | 552 | 91aa | ENSP00000450551.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556533.1 | PSEN1-009 | 550 | 92aa | ENSP00000452128.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000556011.1 | PSEN1-026 | 442 | 42aa | ENSP00000451662.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V490 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000555386.1 | PSEN1-006 | 1484 | 374aa | ENSP00000450845.1 | Nonsense mediated decay | G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768 | - | - | |
ENST00000553855.1 | PSEN1-024 | 1254 | 378aa | ENSP00000452242.1 | Nonsense mediated decay | G3V2G7 G3V4M0 G3V4P4 P49768 | - | - | |
ENST00000559361.1 | PSEN1-029 | 795 | 57aa | ENSP00000454156.1 | Nonsense mediated decay | H0YNU4 | - | - | |
ENST00000553447.2 | PSEN1-019 | 572 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000555867.1 | PSEN1-022 | 876 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000554995.1 | PSEN1-023 | 592 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |