Description

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

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 alternate assemblies

About this gene

This gene has 11 transcripts (splice variants), 1 gene allele, 69 orthologues, 1 paralogue, is a member of 3 Ensembl protein families and is associated with 8 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SMN1-001ENST000003807071536294aaENSP00000370083
 
Protein coding
CCDS34181Q16637 NM_000344
NP_000335
TSL:1GENCODE basicAPPRIS P1
SMN1-007ENST000005061631445282aaENSP00000424926
 
Protein coding
CCDS75256Q16637 NM_001297715
NP_001284644
TSL:1GENCODE basic
SMN1-008ENST000005030791219262aaENSP00000428128
 
Protein coding
CCDS34182Q16637 NM_022874
NP_075012
TSL:5GENCODE basic
SMN1-201ENST00000351205900294aaENSP00000305857
 
Protein coding
CCDS34181Q16637 -TSL:1GENCODE basicAPPRIS P1
SMN1-002ENST000005149511308227aaENSP00000423298
 
Protein coding
-B4DP61 -TSL:2GENCODE basic
SMN1-202ENST00000625245885294aaENSP00000486539
 
Protein coding
---TSL:5GENCODE basic
SMN1-003ENST000005062391550294aaENSP00000422679
 
Nonsense mediated decay
-E7EQZ4 -TSL:5
SMN1-005ENST0000050790543179aaENSP00000430657
 
Nonsense mediated decay
-H0YBZ9 -CDS 5' incompleteTSL:5
SMN1-004ENST000005106791045No protein-
 
Processed transcript
---TSL:3
SMN1-009ENST00000513228499No protein-
 
Retained intron
---TSL:2
SMN1-010ENST00000518504453No protein-
 
Retained intron
---TSL:5

Gene-based displays