Canonical Allele Identifier: CA340480932
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063568C>T , CM000663.2:g.55063568C>T GRCh38
NC_000001.10:g.55529241C>T , CM000663.1:g.55529241C>T GRCh37
NC_000001.9:g.55301829C>T NCBI36
NG_009061.1:g.29022C>T , LRG_275:g.29022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*403C>T ENSP00000501161.2:n.*403C>T
ENST00000710286.1:c.2420C>T ENSP00000518176.1:p.Ser807Phe
ENST00000673903.1:c.1688C>T ENSP00000501257.1:p.Ser563Phe
ENST00000302118.5:c.2063C>T MANE Select ENSP00000303208.5:p.Ser688Phe
ENST00000490692.1:n.2609C>T
NM_174936.3:c.2063C>T , LRG_275t1:c.2063C>T NP_777596.2:p.Ser688Phe
NR_110451.1:n.1670C>T
XM_011541193.1:c.1184C>T XP_011539495.1:p.Ser395Phe
NM_174936.4:c.2063C>T MANE Select NP_777596.2:p.Ser688Phe
NR_110451.2:n.1670C>T