ClinVar

NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21563266 (on Assembly GRCh38)
• Chr1: 21889759 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)

HGVS:

• NC_000001.11:g.21563266C>T
• NG_008940.1:g.58902C>T
• NM_000478.6:c.454C>TMANE SELECT
• NM_001127501.4:c.289C>T
• NM_001177520.3:c.223C>T
• NM_001369803.2:c.454C>T
• NM_001369804.2:c.454C>T
• NM_001369805.2:c.454C>T
• NP_000469.3:p.Arg152Cys
• NP_001120973.2:p.Arg97Cys
• NP_001170991.1:p.Arg75Cys
• NP_001356732.1:p.Arg152Cys
• NP_001356733.1:p.Arg152Cys
• NP_001356734.1:p.Arg152Cys
• NC_000001.10:g.21889759C>T
• NM_000478.4:c.454C>T
• NM_000478.5:c.454C>T
• NM_000478.6:c.454C>T

This HGVS expression did not pass validation

Protein change:

R152C

Links:

dbSNP: rs200621180

NCBI 1000 Genomes Browser:

rs200621180

Molecular consequence:

• NM_000478.6:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177520.3:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]