Transcript: ENST00000580584.1 PMP22-006

Description

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

Gene Synonyms

CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110

Location

Chromosome 17: 15,134,384-15,168,643 reverse strand.

About this transcript

This transcript has 4 exons, is associated with 14288 variant alleles and maps to 223 oligo probes.

Gene

This transcript is a product of gene ENSG00000109099.9 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000395938.2	PMP22-001	1817	160aa	ENSP00000379269.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11168	B4DUL1 Q01453 Q6FH25	NM_153321.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000312280.3	PMP22-002	1810	160aa	ENSP00000308937.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11168	B4DUL1 Q01453 Q6FH25	NM_153322.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000494511.1	PMP22-004	872	161aa	ENSP00000462782.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KT36 J3QS08	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000395936.1	PMP22-003	816	118aa	ENSP00000379268.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A8MU75	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000426385.3	PMP22-008	571	125aa	ENSP00000409824.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KQW0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000580584.1	PMP22-006	428	51aa	ENSP00000464468.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3QS08	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000471150.2	PMP22-005	637	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000580497.1	PMP22-007	576	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 4, Coding exons: 2, Transcript length: 428 bps, Translation length: 51 residues

Incomplete CDS

3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete

Version

ENST00000580584.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000442213 (version 2)

Favourite species

All species

Recent locations

Transcript: ENST00000580584.1 PMP22-006

Summary