ClinVar

NM_001611.5(ACP5):c.516T>A (p.Pro172=)

Gene:

ACP5:acid phosphatase 5, tartrate resistant [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11576462 (on Assembly GRCh38)
• Chr19: 11687277 (on Assembly GRCh37)

Preferred name:

NM_001611.5(ACP5):c.516T>A (p.Pro172=)

HGVS:

• NC_000019.10:g.11576462A>T
• NG_028127.1:g.7525T>A
• NM_001111034.3:c.516T>A
• NM_001111035.3:c.516T>A
• NM_001111036.3:c.516T>A
• NM_001322023.2:c.516T>A
• NM_001611.5:c.516T>AMANE SELECT
• NP_001104504.1:p.Pro172=
• NP_001104505.1:p.Pro172=
• NP_001104506.1:p.Pro172=
• NP_001308952.1:p.Pro172=
• NP_001602.1:p.Pro172=
• LRG_1218t1:c.516T>A
• LRG_1218:g.7525T>A
• LRG_1218p1:p.Pro172=
• NC_000019.9:g.11687277A>T
• NM_001111035.2:c.516T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs887425978

NCBI 1000 Genomes Browser:

rs887425978

Molecular consequence:

• NM_001111034.3:c.516T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001111035.3:c.516T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001111036.3:c.516T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322023.2:c.516T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001611.5:c.516T>A - synonymous variant - [Sequence Ontology: SO:0001819]