ClinVar

NM_000478.6(ALPL):c.407G>A (p.Arg136His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21563219 (on Assembly GRCh38)
• Chr1: 21889712 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.407G>A (p.Arg136His)

Other names:

R119H

HGVS:

• NC_000001.11:g.21563219G>A
• NG_008940.1:g.58855G>A
• NM_000478.6:c.407G>AMANE SELECT
• NM_001127501.4:c.242G>A
• NM_001177520.3:c.176G>A
• NM_001369803.2:c.407G>A
• NM_001369804.2:c.407G>A
• NM_001369805.2:c.407G>A
• NP_000469.3:p.Arg136His
• NP_001120973.2:p.Arg81His
• NP_001170991.1:p.Arg59His
• NP_001356732.1:p.Arg136His
• NP_001356733.1:p.Arg136His
• NP_001356734.1:p.Arg136His
• NC_000001.10:g.21889712G>A
• NM_000478.4:c.407G>A
• NM_000478.5:c.407G>A
• P05186:p.Arg136His
• p.(Arg136His)

This HGVS expression did not pass validation

Protein change:

R136H; ARG119HIS

Links:

UniProtKB: P05186#VAR_006152; OMIM: 171760.0013; dbSNP: rs121918011

NCBI 1000 Genomes Browser:

rs121918011

Molecular consequence:

• NM_000478.6:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177520.3:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]