Transcript: ENST00000594240.1 SMC1A-001

Description

structural maintenance of chromosomes 1A [Source:HGNC Symbol;Acc:11111]

Gene Synonyms

CDLS2, DXS423E, KIAA0178, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB, Smcb

Location

Chromosome HG1433_PATCH: 53,117,149-53,165,728 reverse strand.

About this transcript

This transcript has 25 exons, is annotated with 31 domains and features, is associated with 14738 variant alleles and maps to 1022 oligo probes.

Gene

This transcript is a product of gene ENSG00000269384.2 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	RefSeq	Flags
ENST00000594240.1	SMC1A-001	9784	1233aa	ENSP00000471583.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	Q14683	-	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,
ENST00000599303.1	SMC1A-202	1761	516aa	ENSP00000471963.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	G8JLG1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000594131.1	SMC1A-003	868	262aa	ENSP00000469604.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	H0Y7K8 Q5H934	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000599338.2	SMC1A-005	838	279aa	ENSP00000477225.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000595619.1	SMC1A-002	880	54aa	ENSP00000476457.1	Nonsense mediated decay	-	-	-
ENST00000595542.1	SMC1A-004	847	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript	-	-	-

Summary

Statistics

Exons: 25, Coding exons: 25, Transcript length: 9,784 bps, Translation length: 1,233 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q14683

Version

ENST00000594240.1

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. This was projected to the alternate locus via a mapping from the primary assembly.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000056756 (version 2)

GENCODE basic gene

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

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Transcript: ENST00000594240.1 SMC1A-001

Summary