Transcript: ENST00000586718.1 NPC1-009

Description

Niemann-Pick disease, type C1 [Source:HGNC Symbol;Acc:7897]

Gene Synonyms

NPC

Location

Chromosome 18: 21,119,787-21,121,336 reverse strand.

About this transcript

This transcript has 3 exons, is associated with 916 variant alleles and maps to 142 oligo probes.

Gene

This transcript is a product of gene ENSG00000141458.8 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000269228.5	NPC1-001	5157	1278aa	ENSP00000269228.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11878	O15118	NM_000271.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000591051.1	NPC1-003	3171	971aa	ENSP00000467636.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DET3	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000412552.2	NPC1-201	3171	960aa	ENSP00000408606.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DET3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000593280.2	NPC1-013	1607	42aa	ENSP00000467150.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000591107.2	NPC1-002	890	179aa	ENSP00000468438.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000590723.1	NPC1-014	755	59aa	ENSP00000464755.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7EIH7	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000586150.1	NPC1-012	571	175aa	ENSP00000468321.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000540608.1	NPC1-004	2790	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000587223.1	NPC1-005	590	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000588867.1	NPC1-010	2000	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000591075.1	NPC1-007	809	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000586718.1	NPC1-009	574	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000591955.1	NPC1-008	561	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000587163.1	NPC1-011	431	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000590301.1	NPC1-006	410	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: 3, Coding exons: 0, Transcript length: 574 bps,

Version

ENST00000586718.1

Type

Retained intron

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:	OTTHUMT00000445489 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000586718.1 NPC1-009

Summary