ClinVar

NM_005460.4(SNCAIP):c.2176T>A (p.Leu726Met)

Genes:

SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
MGC32805:uncharacterized LOC153163 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

• Chr5: 122451023 (on Assembly GRCh38)
• Chr5: 121786718 (on Assembly GRCh37)

Preferred name:

NM_005460.4(SNCAIP):c.2176T>A (p.Leu726Met)

HGVS:

• NC_000005.10:g.122451023T>A
• NG_011486.2:g.143899T>A
• NM_001242935.3:c.1078T>A
• NM_001308100.2:c.2317T>A
• NM_001308105.1:c.1996T>A
• NM_001308106.1:c.1072T>A
• NM_001308107.2:c.1078T>A
• NM_001308108.1:c.1258T>A
• NM_001308109.2:c.964T>A
• NM_005460.4:c.2176T>AMANE SELECT
• NP_001229864.1:p.Leu360Met
• NP_001295029.1:p.Leu773Met
• NP_001295034.1:p.Leu666Met
• NP_001295035.1:p.Leu358Met
• NP_001295036.1:p.Leu360Met
• NP_001295037.1:p.Leu420Met
• NP_001295038.1:p.Leu322Met
• NP_005451.2:p.Leu726Met
• NC_000005.9:g.121786718T>A
• NM_005460.2:c.2176T>A
• NR_131761.1:n.2588T>A
• NR_131762.1:n.1317T>A

This HGVS expression did not pass validation

Protein change:

L322M

Molecular consequence:

• NM_001242935.3:c.1078T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308100.2:c.2317T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308105.1:c.1996T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308106.1:c.1072T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308107.2:c.1078T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308108.1:c.1258T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308109.2:c.964T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005460.4:c.2176T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_131761.1:n.2588T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_131762.1:n.1317T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]