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

Chromosome 5: 70,925,030-70,953,942 forward strand.

GRCh38:CM000667.2

View alleles of this gene on alternative sequences

About this gene

This gene has 11 transcripts (splice variants), 1 gene allele, 221 orthologues, 2 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000380707.9SMN1-2021482294aaENSP00000370083.4
 
Protein coding
CCDS34181Q16637-1 NM_000344.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000506163.5SMN1-2041445282aaENSP00000424926.1
 
Protein coding
CCDS75256Q16637-3 -GENCODE basicTSL:1
ENST00000514951.5SMN1-2091308227aaENSP00000423298.1
 
Protein coding
B4DP61 -GENCODE basicTSL:2
ENST00000503079.6SMN1-2031219262aaENSP00000428128.1
 
Protein coding
CCDS34182Q16637-2 -GENCODE 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