Description

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

Location

Chromosome 1: 155,289,839-155,301,434 reverse strand.

View alleles of this gene on alternate assemblies

INSDC coordinates

chromosome:GRCh38:CM000663.2:155289839:155301434:1

About this gene

This gene has 3 transcripts (splice variants), 1 gene allele, 64 orthologues, 1 paralogue, is a member of 2 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PKLR-002ENST000003924142479543aaENSP00000376214
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS44240P30613 NM_181871
NP_870986
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1

ALTERNATIVE1 - APPRIS candidate principal isoform that is conserved in at least three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

PKLR-001ENST000003427412083574aaENSP00000339933
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS1109P30613 NM_000298
NP_000289
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P3

PRINCIPAL3 - APPRIS candidate principal isoform (earliest CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

PKLR-004ENST0000043408258046aaENSP00000398037
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-F8W6W2 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays