ClinVar

NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)

Gene:

PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 55061544 (on Assembly GRCh38)
• Chr1: 55527217 (on Assembly GRCh37)

Preferred name:

NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)

HGVS:

• NC_000001.11:g.55061544C>T
• NG_009061.1:g.26998C>T
• NM_001407240.1:c.1974C>T
• NM_001407241.1:c.1893C>T
• NM_001407242.1:c.1854C>T
• NM_001407243.1:c.1794C>T
• NM_001407244.1:c.1677C>T
• NM_001407245.1:c.1659C>T
• NM_001407246.1:c.1476C>T
• NM_001407247.1:c.1350C>T
• NM_174936.4:c.1851C>TMANE SELECT
• NP_001394169.1:p.Ala658=
• NP_001394170.1:p.Ala631=
• NP_001394171.1:p.Ala618=
• NP_001394172.1:p.Ala598=
• NP_001394173.1:p.Ala559=
• NP_001394174.1:p.Ala553=
• NP_001394175.1:p.Ala492=
• NP_001394176.1:p.Ala450=
• NP_777596.2:p.Ala617=
• NP_777596.2:p.Ala617=
• LRG_275t1:c.1851C>T
• LRG_275:g.26998C>T
• LRG_275p1:p.Ala617=
• NC_000001.10:g.55527217C>T
• NM_174936.3:c.1851C>T
• NR_110451.3:n.2132C>T
• NR_176318.1:n.1935C>T
• NR_176319.1:n.2410C>T
• NR_176320.1:n.2374C>T
• NR_176321.1:n.2089C>T
• NR_176322.1:n.2044C>T
• NR_176323.1:n.1963C>T
• NR_176324.1:n.2351C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs140364657

NCBI 1000 Genomes Browser:

rs140364657

Molecular consequence:

• NR_110451.3:n.2132C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176318.1:n.1935C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176319.1:n.2410C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176320.1:n.2374C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176321.1:n.2089C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176322.1:n.2044C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176323.1:n.1963C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176324.1:n.2351C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001407240.1:c.1974C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407241.1:c.1893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407242.1:c.1854C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407243.1:c.1794C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407244.1:c.1677C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407245.1:c.1659C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407246.1:c.1476C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407247.1:c.1350C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174936.4:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]