Description
trichorhinophalangeal syndrome I [Source:HGNC Symbol;Acc:12340]
Gene Synonyms
GC79, LGCR
Location
Chromosome 8: 116,420,724-116,681,228 reverse strand.
About this transcript
This transcript has 7 exons, is annotated with 29 domains and features, is associated with 109431 variant alleles and maps to 742 oligo probes.
Gene
This transcript is a product of gene ENSG00000104447.7 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000395715.3 | TRPS1-001 | 9990 | 1294aa | ENSP00000379065.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6318 | C9J6L7 E7EVN4 F8W8T0 Q9UHF7 | NM_014112.2 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000220888.5 | TRPS1-002 | 5480 | 1281aa | ENSP00000220888.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UHF7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000520276.1 | TRPS1-006 | 4083 | 1285aa | ENSP00000428680.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64957 | Q9UHF7 | NM_001282902.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000519076.1 | TRPS1-009 | 3329 | 1035aa | ENSP00000428910.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RFF3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000519674.1 | TRPS1-007 | 3116 | 902aa | ENSP00000429174.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ97 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000517323.2 | TRPS1-008 | 2171 | 691aa | ENSP00000430803.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YC29 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000518018.1 | TRPS1-011 | 813 | 271aa | ENSP00000428121.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000519815.1 | TRPS1-010 | 584 | 108aa | ENSP00000430383.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L7 E7EVN4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000395713.2 | TRPS1-005 | 581 | 117aa | ENSP00000379063.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L7 E7EVN4 F8W8T0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000422939.1 | TRPS1-004 | 581 | 61aa | ENSP00000405028.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000451156.1 | TRPS1-003 | 569 | 9aa | ENSP00000400360.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |