survival of motor neuron 1, telomeric [Source:HGNC Symbol;Acc:11117]
BCD541, C-BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMN1, SMN2, SMNC, SMNT, T-BCD541, TDRD16A, TDRD16B
Chromosome 5: 70,220,768-70,249,769 forward strand.
GRCh37:CM000667.1
This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 8 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000380707.4 | SMN1-001 | 1536 | 294aa | ENSP00000370083.4 | Protein coding | CCDS34181 | Q16637 Q9UNT8 | NM_000344.3 | Ensembl Canonical, GENCODE basic, |
ENST00000351205.4 | SMN1-201 | 1531 | 262aa | ENSP00000305857.4 | Protein coding | CCDS34182 | I3QJX9 Q16637 Q9UNT8 | NM_022874.2 | GENCODE basic, |
ENST00000506163.1 | SMN1-007 | 1445 | 282aa | ENSP00000424926.1 | Protein coding | Q16637 Q9UNT8 | - | GENCODE basic, | |
ENST00000514951.1 | SMN1-002 | 1308 | 227aa | ENSP00000423298.1 | Protein coding | B4DP61 I2E4S7 Q9UNT8 | - | GENCODE basic, | |
ENST00000503079.2 | SMN1-008 | 1219 | 262aa | ENSP00000428128.1 | Protein coding | CCDS34182 | I3QJX9 Q16637 Q9UNT8 | - | GENCODE basic, |
ENST00000506239.2 | SMN1-003 | 1550 | 294aa | ENSP00000422679.2 | Nonsense mediated decay | E7EQZ4 Q9UNT8 | - | - | |
ENST00000507905.2 | SMN1-005 | 431 | 79aa | ENSP00000430657.1 | Nonsense mediated decay | H0YBZ9 | - | CDS 5' incomplete, | |
ENST00000510679.1 | SMN1-004 | 1045 | No protein | - | Processed transcript | - | - | - | |
ENST00000513228.1 | SMN1-009 | 499 | No protein | - | Retained intron | - | - | - | |
ENST00000518504.1 | SMN1-010 | 453 | No protein | - | Retained intron | - | - | - |