Canonical Allele Identifier: CA037929
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 492240
dbSNP Id: rs781492750
gnomAD v2: 1-55525194-C-T
gnomAD v3: 1-55059521-C-T
gnomAD v4: 1-55059521-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059521C>T , CM000663.2:g.55059521C>T GRCh38
NC_000001.10:g.55525194C>T , CM000663.1:g.55525194C>T GRCh37
NC_000001.9:g.55297782C>T NCBI36
NG_009061.1:g.24975C>T , LRG_275:g.24975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1539C>T ENSP00000501161.2:p.Asn513=
ENST00000710286.1:c.1896C>T ENSP00000518176.1:p.Asn632=
ENST00000673903.1:c.1164C>T ENSP00000501257.1:p.Asn388=
ENST00000673913.1:c.279C>T ENSP00000501161.1:p.Asn93=
ENST00000302118.5:c.1539C>T MANE Select ENSP00000303208.5:p.Asn513=
ENST00000490692.1:n.2227+874C>T
NM_174936.3:c.1539C>T , LRG_275t1:c.1539C>T NP_777596.2:p.Asn513=
NR_110451.1:n.1146C>T
XM_011541193.1:c.660C>T XP_011539495.1:p.Asn220=
NM_174936.4:c.1539C>T MANE Select NP_777596.2:p.Asn513=
NR_110451.2:n.1146C>T