Description

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

Synonyms

GAS-3, HNPP, Sp110

Location
About this transcript

This transcript has 5 exons, is annotated with 19 domains and features, is associated with 191 variations and maps to 24 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PMP22-201ENST000006124921822160aaENSP00000484631
 
Protein coding
CCDS11168Q01453 Q6FH25 NM_001281455
NM_153322
NP_001268384
NP_696997
TSL:3GENCODE basicAPPRIS P1
PMP22-001ENST000003959381817160aaENSP00000379269
 
Protein coding
CCDS11168Q01453 Q6FH25 NM_153321
NP_696996
TSL:1GENCODE basicAPPRIS P1
PMP22-002ENST000003122801810160aaENSP00000308937
 
Protein coding
CCDS11168Q01453 Q6FH25 NM_000304
NM_001281456
NP_000295
NP_001268385
TSL:1GENCODE basicAPPRIS P1
PMP22-004ENST00000494511872161aaENSP00000462782
 
Protein coding
-J3KT36 -TSL:2GENCODE basic
PMP22-003ENST00000395936816118aaENSP00000379268
 
Protein coding
-A8MU75 -TSL:3GENCODE basic
PMP22-008ENST00000426385571125aaENSP00000409824
 
Protein coding
-J3KQW0 -TSL:2GENCODE basic
PMP22-006ENST0000058058442851aaENSP00000464468
 
Protein coding
-J3QS08 -CDS 3' incompleteTSL:3
PMP22-005ENST00000471150637No protein-
 
Retained intron
---TSL:2
PMP22-007ENST00000580497576No protein-
 
Retained intron
---TSL:3
Statistics

Exons: 5 Coding exons: 4 Transcript length: 1,810 bps Translation length: 160 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS11168

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q01453

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000312280.7

Type

Known protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays