ClinVar

NM_201548.5(CERKL):c.2T>G (p.Met1Arg)

Genes:

LOC129935215:ATAC-STARR-seq lymphoblastoid silent region 12158 [Gene]
CERKL:ceramide kinase like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.3

Genomic location:

• Chr2: 181657005 (on Assembly GRCh38)
• Chr2: 182521732 (on Assembly GRCh37)

Preferred name:

NM_201548.5(CERKL):c.2T>G (p.Met1Arg)

HGVS:

• NC_000002.12:g.181657005A>C
• NG_021178.2:g.5103T>G
• NM_001030311.3:c.2T>G
• NM_001030312.3:c.2T>G
• NM_001030313.3:c.2T>G
• NM_001160277.2:c.2T>G
• NM_201548.5:c.2T>GMANE SELECT
• NP_001025482.1:p.Met1Arg
• NP_001025482.1:p.Met1Arg
• NP_001025483.1:p.Met1Arg
• NP_001025484.1:p.Met1Arg
• NP_001153749.1:p.Met1Arg
• NP_963842.1:p.Met1Arg
• NC_000002.11:g.182521732A>C
• NM_001030311.2:c.2T>G
• NR_027689.2:n.101T>G
• NR_027690.2:n.101T>G

This HGVS expression did not pass validation

Protein change:

M1R

Links:

dbSNP: rs1187991259

NCBI 1000 Genomes Browser:

rs1187991259

Molecular consequence:

• NM_001030311.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001030312.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001030313.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001160277.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_201548.5:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001030311.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001030312.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001030313.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160277.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_201548.5:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_027689.2:n.101T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_027690.2:n.101T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]