Gene: SMN1 ENSG00000172062

Description

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

Gene Synonyms

BCD541, C-BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMN1, SMN2, SMNC, SMNT, T-BCD541, TDRD16A, TDRD16B

Location

Chromosome 5: 70,220,768-70,249,769 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000380707.4	SMN1-001	1536	294aa	ENSP00000370083.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34181	Q16637 Q9UNT8	NM_000344.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000351205.4	SMN1-201	1531	262aa	ENSP00000305857.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34182	I3QJX9 Q16637 Q9UNT8	NM_022874.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506163.1	SMN1-007	1445	282aa	ENSP00000424926.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q16637 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000514951.1	SMN1-002	1308	227aa	ENSP00000423298.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DP61 I2E4S7 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000503079.2	SMN1-008	1219	262aa	ENSP00000428128.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34182	I3QJX9 Q16637 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000510679.1	SMN1-004	1045	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000513228.1	SMN1-009	499	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000518504.1	SMN1-010	453	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024

Gene: SMN1 ENSG00000172062

Summary

EMBL-EBI User Survey 2024

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Gene: SMN1 ENSG00000172062

Summary