ClinVar

NM_000478.6(ALPL):c.827T>C (p.Leu276Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21570339 (on Assembly GRCh38)
• Chr1: 21896832 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.827T>C (p.Leu276Pro)

HGVS:

• NC_000001.11:g.21570339T>C
• NG_008940.1:g.65975T>C
• NM_000478.6:c.827T>CMANE SELECT
• NM_001127501.4:c.662T>C
• NM_001177520.3:c.596T>C
• NM_001369803.2:c.827T>C
• NM_001369804.2:c.827T>C
• NM_001369805.2:c.827T>C
• NP_000469.3:p.Leu276Pro
• NP_001120973.2:p.Leu221Pro
• NP_001170991.1:p.Leu199Pro
• NP_001356732.1:p.Leu276Pro
• NP_001356733.1:p.Leu276Pro
• NP_001356734.1:p.Leu276Pro
• NC_000001.10:g.21896832T>C

This HGVS expression did not pass validation

Protein change:

L199P

Links:

dbSNP: rs1644628318

NCBI 1000 Genomes Browser:

rs1644628318

Molecular consequence:

• NM_000478.6:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.662T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177520.3:c.596T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1