Canonical Allele Identifier: CA2645843510
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063326-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063326G>A , CM000663.2:g.55063326G>A GRCh38
NC_000001.10:g.55528999G>A , CM000663.1:g.55528999G>A GRCh37
NC_000001.9:g.55301587G>A NCBI36
NG_009061.1:g.28780G>A , LRG_275:g.28780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*204-43G>A ENSP00000501161.2:n.*204-43G>A
ENST00000710286.1:c.2221-43G>A ENSP00000518176.1:n.2221-43G>A
ENST00000673903.1:c.1489-43G>A ENSP00000501257.1:n.1489-43G>A
ENST00000673913.1:c.714-43G>A ENSP00000501161.1:n.714-43G>A
ENST00000302118.5:c.1864-43G>A MANE Select ENSP00000303208.5:n.1864-43G>A
ENST00000490692.1:n.2410-43G>A
NM_174936.3:c.1864-43G>A , LRG_275t1:c.1864-43G>A NP_777596.2:n.1864-43G>A
NR_110451.1:n.1471-43G>A
XM_011541193.1:c.985-43G>A XP_011539495.1:n.985-43G>A
NM_174936.4:c.1864-43G>A MANE Select NP_777596.2:n.1864-43G>A
NR_110451.2:n.1471-43G>A