ClinVar

NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)

Gene:

ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21564139 (on Assembly GRCh38)
• Chr1: 21890632 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)

Other names:

E174K

HGVS:

• NC_000001.11:g.21564139G>A
• NG_008940.1:g.59775G>A
• NM_000478.6:c.571G>AMANE SELECT
• NM_001127501.4:c.406G>A
• NM_001177520.3:c.340G>A
• NM_001369803.2:c.571G>A
• NM_001369804.2:c.571G>A
• NM_001369805.2:c.571G>A
• NP_000469.3:p.Glu191Lys
• NP_000469.3:p.Glu191Lys
• NP_001120973.2:p.Glu136Lys
• NP_001170991.1:p.Glu114Lys
• NP_001356732.1:p.Glu191Lys
• NP_001356733.1:p.Glu191Lys
• NP_001356734.1:p.Glu191Lys
• NC_000001.10:g.21890632G>A
• NM_000478.3:c.571G>A
• NM_000478.4:c.571G>A
• NM_000478.5:c.571G>A
• P05186:p.Glu191Lys

This HGVS expression did not pass validation

Protein change:

E114K; GLU174LYS

Links:

UniProtKB: P05186#VAR_006158; OMIM: 171760.0008; dbSNP: rs121918007

NCBI 1000 Genomes Browser:

rs121918007

Molecular consequence:

• NM_000478.6:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177520.3:c.340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]