ClinVar

NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 55059612 (on Assembly GRCh38)
• Chr1: 55525285 (on Assembly GRCh37)

Preferred name:

NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr)

HGVS:

• NC_000001.11:g.55059612G>A
• NG_009061.1:g.25066G>A
• NM_001407240.1:c.1753G>A
• NM_001407241.1:c.1672G>A
• NM_001407242.1:c.1633G>A
• NM_001407243.1:c.1573G>A
• NM_001407244.1:c.1456G>A
• NM_001407245.1:c.1438G>A
• NM_001407246.1:c.1255G>A
• NM_174936.4:c.1630G>AMANE SELECT
• NP_001394169.1:p.Ala585Thr
• NP_001394170.1:p.Ala558Thr
• NP_001394171.1:p.Ala545Thr
• NP_001394172.1:p.Ala525Thr
• NP_001394173.1:p.Ala486Thr
• NP_001394174.1:p.Ala480Thr
• NP_001394175.1:p.Ala419Thr
• NP_777596.2:p.Ala544Thr
• NP_777596.2:p.Ala544Thr
• LRG_275t1:c.1630G>A
• LRG_275:g.25066G>A
• LRG_275p1:p.Ala544Thr
• NC_000001.10:g.55525285G>A
• NM_174936.3:c.1630G>A
• NR_110451.2:n.1237G>A
• NR_110451.3:n.1911G>A
• NR_176318.1:n.1604G>A
• NR_176319.1:n.2189G>A
• NR_176320.1:n.2043G>A
• NR_176321.1:n.1868G>A
• NR_176322.1:n.1823G>A
• NR_176324.1:n.2130G>A

This HGVS expression did not pass validation

Protein change:

A419T

Links:

dbSNP: rs1026987232

NCBI 1000 Genomes Browser:

rs1026987232

Molecular consequence:

• NM_001407240.1:c.1753G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407241.1:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407242.1:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407243.1:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407244.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407245.1:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407246.1:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_174936.4:c.1630G>A - missense variant - [Sequence Ontology: SO:0001583]