Canonical Allele Identifier: CA1143541921
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061485G= , CM000663.2:g.55061485G= GRCh38
NC_000001.10:g.55527158G= , CM000663.1:g.55527158G= GRCh37
NC_000001.9:g.55299746G= NCBI36
NG_009061.1:g.26939G= , LRG_275:g.26939G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*132G= ENSP00000501161.2:n.*132G=
ENST00000710286.1:c.2149G= ENSP00000518176.1:p.Ala717=
ENST00000673903.1:c.1417G= ENSP00000501257.1:p.Ala473=
ENST00000673913.1:c.642G= ENSP00000501161.1:n.642G=
ENST00000302118.5:c.1792G= MANE Select ENSP00000303208.5:p.Ala598=
ENST00000490692.1:n.2338G=
NM_174936.3:c.1792G= , LRG_275t1:c.1792G= NP_777596.2:p.Ala598=
NR_110451.1:n.1399G=
XM_011541193.1:c.913G= XP_011539495.1:p.Ala305=
NM_174936.4:c.1792G= MANE Select NP_777596.2:p.Ala598=
NR_110451.2:n.1399G=