Human (GRCh38.p14)
Description

twinkle mtDNA helicase [Source:HGNC Symbol;Acc:HGNC:1160]

Gene Synonyms

C10ORF2, FLJ21832, IOSCA, PEO, PEO1, TWINKLE, TWINL

Location

Chromosome 10: 100,987,367-100,994,403 forward strand.

GRCh38:CM000672.2

About this gene

This gene has 9 transcripts (splice variants), 205 orthologues and is associated with 10 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000311916.8TWNK-2013616684aaENSP00000309595.2
 
Protein coding
CCDS7506Q96RR1-1 NM_021830.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000370228.2TWNK-2023665582aaENSP00000359248.1
 
Protein coding
CCDS53570Q96RR1-2 -GENCODE basicTSL:1
ENST00000473656.5TWNK-204946230aaENSP00000494326.1
 
Protein coding
CCDS86136A0A2R8Y4V4 -GENCODE basicTSL:2
ENST00000476766.5TWNK-205838128aaENSP00000496012.1
 
Protein coding
CCDS86137A0A2R8Y746 -GENCODE basicTSL:3
ENST00000459764.1TWNK-20332740aaENSP00000496746.1
 
Protein coding
A0A2R8Y8D3 -TSL:3CDS 3' incomplete
ENST00000643860.1TWNK-2063722531aaENSP00000494389.1
 
Nonsense mediated decay
Q96RR1-3 --
ENST00000650396.1TWNK-209201196aaENSP00000497629.1
 
Nonsense mediated decay
A0A3B3IT76 -CDS 5' incomplete
ENST00000647109.1TWNK-20881624aaENSP00000496246.1
 
Nonsense mediated decay
A0A2R8YF85 -CDS 5' incomplete
ENST00000646226.1TWNK-207772No protein-
 
Retained intron
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