ClinVar

NM_000478.6(ALPL):c.1190-16C>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21576506 (on Assembly GRCh38)
• Chr1: 21902999 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.1190-16C>A

HGVS:

• NC_000001.11:g.21576506C>A
• NG_008940.2:g.72524C>A
• NM_000478.6:c.1190-16C>AMANE SELECT
• NM_001127501.4:c.1025-16C>A
• NM_001177520.3:c.959-16C>A
• NM_001369803.2:c.1190-16C>A
• NM_001369804.2:c.1190-16C>A
• NM_001369805.2:c.1190-16C>A
• NC_000001.10:g.21902999C>A
• NG_008940.1:g.72142C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000478.6:c.1190-16C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127501.4:c.1025-16C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177520.3:c.959-16C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369803.2:c.1190-16C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369804.2:c.1190-16C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369805.2:c.1190-16C>A - intron variant - [Sequence Ontology: SO:0001627]