Gene: SPTA1 ENSG00000163554

Description

spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Source:HGNC Symbol;Acc:11272]

Gene Synonyms

EL2, HPP, HS3, SPH3, SPTA

Location

Chromosome 1: 158,580,496-158,656,488 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 9 transcripts (splice variants), 12 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000368147.4	SPTA1-001	7999	2419aa	ENSP00000357129.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS41423	O60686 P02549	NM_003126.2	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,
ENST00000467387.1	SPTA1-003	465	124aa	ENSP00000476485.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000485680.1	SPTA1-010	422	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461624.1	SPTA1-005	930	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000492934.1	SPTA1-007	771	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000484520.1	SPTA1-006	769	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000465741.1	SPTA1-004	718	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000481212.1	SPTA1-009	643	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000498708.1	SPTA1-008	600	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: SPTA1 ENSG00000163554

Summary

EMBL-EBI User Survey 2024

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Gene: SPTA1 ENSG00000163554

Summary