Gene: PKLR ENSG00000143627

Description

pyruvate kinase, liver and RBC [Source:HGNC Symbol;Acc:9020]

Gene Synonyms

PK1, PKL, PKR, PKRL, RPK

Location

GRCh37:CM000663.1

View alleles of this gene on alternative sequences

About this gene

This gene has 3 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 3 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000342741.4	PKLR-001	2083	574aa	ENSP00000339933.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1109	B4DPM0 P30613 Q16715	NM_000298.5	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,
ENST00000392414.3	PKLR-002	2479	543aa	ENSP00000376214.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44240	B4DPM0 P30613 Q16716	NM_181871.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000434082.2	PKLR-004	580	46aa	ENSP00000398037.2	Nonsense mediated decay		F8W6W2	-	-

Summary