Transcript: ENST00000502692.1 ACTN3-003

Description

actinin, alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:165]

Location

Chromosome 11: 66,313,866-66,330,797 forward strand.

About this transcript

This transcript has 21 exons, is associated with 8157 variant alleles and maps to 598 oligo probes.

Gene

This transcript is a product of gene ENSG00000248746.1 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	RefSeq	Flags
ENST00000511191.1	ACTN3-005	704	72aa	ENSP00000426236.1	Nonsense mediated decay	D6RH00	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical,
ENST00000502692.1	ACTN3-003	3084	944aa	ENSP00000422007.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene	-	NM_001258371.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000513398.1	ACTN3-001	2939	901aa	ENSP00000426797.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene	-	NM_001104.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary

Statistics

Exons: 21, Coding exons: 21, Transcript length: 3,084 bps, Translation length: 944 residues

Version

ENST00000502692.1

Type

Polymorphic pseudogene

Annotation Method

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

Stop codons

This transcript has a variant, rs1815739, that causes a stop codon to be lost in at least 10% of HapMap or 1000 Genome population(s) ESP6500:African_American, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HAPMAP-TSI, CSHL-HAPMAP:HAPMAP-ASW, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HAPMAP-LWK, ESP6500:European_American, CSHL-HAPMAP:HAPMAP-CHD, CSHL-HAPMAP:HAPMAP-CHB.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000362465 (version 1)

GENCODE basic gene

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

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Transcript: ENST00000502692.1 ACTN3-003

Summary