Description

peripheral myelin protein 22 [Source:HGNC Symbol;Acc:HGNC:9118]

Synonyms

GAS-3, HNPP, Sp110

Location
Gene

This transcript is a product of gene ENSG00000109099

This gene has 9 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
PMP22-201ENST000006124921822160 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11168B4DUL1 PMP22-201 Q6FH25
NM_001281455
NM_153322
NP_001268384
NP_696997
TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PIAPPRIS principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
PMP22-001ENST000003959381817160 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11168B4DUL1 PMP22-001 Q01453
Q6FH25
NM_153321
NP_696996
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PIAPPRIS principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
PMP22-002ENST000003122801810160 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS11168B4DUL1 PMP22-002 Q01453
Q6FH25
NM_000304
NM_001281456
NP_000295
NP_001268385
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PIAPPRIS principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
PMP22-004ENST00000494511872161 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-J3KT36 J3QS08 PMP22-004
-TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PMP22-003ENST00000395936816118 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A8MU75 PMP22-003 -TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PMP22-008ENST00000426385571125 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-J3KQW0 PMP22-008 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PMP22-006ENST0000058058442851 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-J3QS08 PMP22-006 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PMP22-005ENST00000471150637No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-PMP22-005 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PMP22-007ENST00000580497576No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-PMP22-007 -TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Protein domains for ENSP00000462782.1

Transcript-based displays