Canonical Allele Identifier: CA1167986542
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063529T= , CM000663.2:g.55063529T= GRCh38
NC_000001.10:g.55529202T= , CM000663.1:g.55529202T= GRCh37
NC_000001.9:g.55301790T= NCBI36
NG_009061.1:g.28983T= , LRG_275:g.28983T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*364T= ENSP00000501161.2:n.*364T=
ENST00000710286.1:c.2381T= ENSP00000518176.1:p.Val794=
ENST00000673903.1:c.1649T= ENSP00000501257.1:p.Val550=
ENST00000302118.5:c.2024T= MANE Select ENSP00000303208.5:p.Val675=
ENST00000490692.1:n.2570T=
NM_174936.3:c.2024T= , LRG_275t1:c.2024T= NP_777596.2:p.Val675=
NR_110451.1:n.1631T=
XM_011541193.1:c.1145T= XP_011539495.1:p.Val382=
NM_174936.4:c.2024T= MANE Select NP_777596.2:p.Val675=
NR_110451.2:n.1631T=