ClinVar

NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)

Gene:

SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394445 (on Assembly GRCh38)
• Chr11: 6415675 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)

HGVS:

• NC_000011.10:g.6394445G>C
• NG_011780.1:g.9021G>C
• NG_029615.1:g.29970C>G
• NM_000543.5:c.1734G>CMANE SELECT
• NM_001007593.3:c.1731G>C
• NM_001318087.2:c.*227G>C
• NM_001318088.2:c.813G>C
• NM_001365135.2:c.1602G>C
• NP_000534.3:p.Lys578Asn
• NP_001007594.2:p.Lys577Asn
• NP_001305017.1:p.Lys271Asn
• NP_001352064.1:p.Lys534Asn
• NC_000011.9:g.6415675G>C
• NM_000543.3:c.1734G>C
• NR_027400.3:n.1687G>C
• NR_134502.2:n.1226G>C
• c.1734G>C (p.Lys578Asn)
• p.Lys576Asn

This HGVS expression did not pass validation

Protein change:

K271N

Links:

dbSNP: rs747342458

NCBI 1000 Genomes Browser:

rs747342458

Molecular consequence:

• NM_001318087.2:c.*227G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000543.5:c.1734G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1731G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.813G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1602G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1687G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.1226G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]