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Human (GRCh38.p14)
Description

survival of motor neuron 1, telomeric [Source:HGNC Symbol;Acc:HGNC:11117]

Gene Synonyms

BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA@, SMNT, TDRD16A

Location
About this transcript

This transcript has 7 exons, is annotated with 25 domains and features, is associated with 3446 variant alleles and maps to 778 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000380707.9SMN1-2021482294aaENSP00000370083.4
 
Protein coding
CCDS34181Q16637-1 NM_000344.4MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P1TSL:1
ENST00000506163.5SMN1-2041445282aaENSP00000424926.1
 
Protein coding
CCDS75256Q16637-3 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000514951.5SMN1-2091308227aaENSP00000423298.1
 
Protein coding
B4DP61 -GENCODE PrimaryGENCODE BasicTSL:2
ENST00000503079.6SMN1-2031219262aaENSP00000428128.1
 
Protein coding
CCDS34182Q16637-2 -GENCODE PrimaryGENCODE BasicTSL:5
ENST00000351205.8SMN1-201900294aaENSP00000305857.5
 
Protein coding
CCDS34181Q16637-1 -GENCODE BasicAPPRIS P1TSL:1
ENST00000625245.2SMN1-211885294aaENSP00000486539.1
 
Protein coding
E7EQZ4 -GENCODE BasicTSL:5
ENST00000506239.6SMN1-2051550294aaENSP00000422679.2
 
Nonsense mediated decay
E7EQZ4 -TSL:5
ENST00000507905.6SMN1-20643179aaENSP00000430657.1
 
Nonsense mediated decay
H0YBZ9 -TSL:5CDS 5' incomplete
ENST00000510679.1SMN1-2071045No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000513228.1SMN1-208499No protein-
 
Retained intron
--TSL:2
ENST00000518504.5SMN1-210453No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 7, Coding exons: 7, Transcript length: 1,219 bps, Translation length: 262 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q16637

CCDS

This transcript is a member of the Human CCDS set: CCDS34182

Transcript Support Level (TSL)

TSL:5

Version

ENST00000503079.6

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.

GENCODE basic gene

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

GENCODE primary gene

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