Gene: ALMS1 ENSG00000116127

Description

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

Gene Synonyms

ALSS, KIAA0328

Location

Chromosome 2: 73,612,886-73,837,920 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 8 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

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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		-	-	-

Orthologues

As of the latest update in March 2020 we are not supporting data for species other than human on this GRCh37 site and the view you wish to use is disabled.

You can read more about why we have done this on our blog.

You can still view this page on the following archive resources:

1. The Ensembl 75 archive represents a code and data freeze taken in February 2014.

2. The GRCh37 archive represents a code and data freeze taken in January 2019.

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Gene: ALMS1 ENSG00000116127

Orthologues