Transcript: ENST00000264448.6 ALMS1-001

Description

Alstrom syndrome 1 [Source:HGNC Symbol;Acc:428]

Gene Synonyms

ALSS, KIAA0328

Location

Chromosome 2: 73,612,886-73,837,046 forward strand.

About this transcript

This transcript has 23 exons, is annotated with 21 domains and features, is associated with 108674 variant alleles and maps to 828 oligo probes.

Gene

This transcript is a product of gene ENSG00000116127.13 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000264448.6	ALMS1-001	12922	4167aa	ENSP00000264448.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42697	A6NMY3 Q8TCU4	NM_015120.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409009.1	ALMS1-002	12592	4125aa	ENSP00000386627.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8ZZJ3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000377715.1	ALMS1-201	7797	2561aa	ENSP00000366944.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A6NMY3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000423048.1	ALMS1-003	5194	1023aa	ENSP00000399833.1	Nonsense mediated decay		H7C1D9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000464408.2	ALMS1-007	640	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000490821.1	ALMS1-006	578	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000476650.1	ALMS1-005	239	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000484298.1	ALMS1-004	6720	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: 23, Coding exons: 23, Transcript length: 12,922 bps, Translation length: 4,167 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8TCU4

CCDS

This transcript is a member of the Human CCDS set: CCDS42697

Version

ENST00000264448.6

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000327776 (version 1)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000264448.6 ALMS1-001

Summary