ClinVar

NM_000298.6(PKLR):c.1388C>T (p.Ala463Val)

Gene:

PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155293225 (on Assembly GRCh38)
• Chr1: 155263016 (on Assembly GRCh37)

Preferred name:

NM_000298.6(PKLR):c.1388C>T (p.Ala463Val)

HGVS:

• NC_000001.11:g.155293225G>A
• NG_011677.1:g.13210C>T
• NM_000298.6:c.1388C>TMANE SELECT
• NM_181871.4:c.1295C>T
• NP_000289.1:p.Ala463Val
• NP_870986.1:p.Ala432Val
• LRG_1136t1:c.1388C>T
• LRG_1136:g.13210C>T
• LRG_1136p1:p.Ala463Val
• NC_000001.10:g.155263016G>A

This HGVS expression did not pass validation

Protein change:

A432V

Links:

dbSNP: rs1647321523

NCBI 1000 Genomes Browser:

rs1647321523

Molecular consequence:

• NM_000298.6:c.1388C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181871.4:c.1295C>T - missense variant - [Sequence Ontology: SO:0001583]