ClinVar

NM_002768.5(CHMP1A):c.516C>T (p.Ala172=)

Gene:

CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89646580 (on Assembly GRCh38)
• Chr16: 89712988 (on Assembly GRCh37)

Preferred name:

NM_002768.5(CHMP1A):c.516C>T (p.Ala172=)

HGVS:

• NC_000016.10:g.89646580G>A
• NG_033005.2:g.16206C>T
• NM_001083314.4:c.496C>T
• NM_002768.5:c.516C>TMANE SELECT
• NP_001076783.1:p.Leu166Phe
• NP_002759.2:p.Ala172=
• NC_000016.9:g.89712988G>A
• NR_046418.3:n.804C>T

This HGVS expression did not pass validation

Protein change:

L166F

Molecular consequence:

• NM_001083314.4:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046418.3:n.804C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_002768.5:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]