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

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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	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		-	-	-

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Gene: SPTA1 ENSG00000163554

Summary