Transcript: ACTN3-003 ENST00000502692.1

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 5242 variant alleles and maps to 586 oligo probes.

Gene

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

Name	Transcript ID	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ACTN3-005	ENST00000511191.1	704	72aa	ENSP00000426236.1	Nonsense mediated decay	-	D6RH00	-	-
ACTN3-003	ENST00000502692.1	3084	944aa	ENSP00000422007.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene	-	-	NM_001258371 NP_001245300	The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic,
ACTN3-001	ENST00000513398.1	2939	901aa	ENSP00000426797.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene	-	-	NM_001104 NP_001095	The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> 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) CSHL-HAPMAP:HAPMAP-CHD, CSHL-HAPMAP:HAPMAP-LWK, ESP6500:European_American, ESP6500:African_American, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HAPMAP-ASW, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HAPMAP-CHB, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-TSI.

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: ACTN3-003 ENST00000502692.1

Summary

Transcript-based displays