Canonical Allele Identifier: CA2645843467

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063313-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063313G>A , CM000663.2:g.55063313G>A	GRCh38
NC_000001.10:g.55528986G>A , CM000663.1:g.55528986G>A	GRCh37
NC_000001.9:g.55301574G>A	NCBI36
NG_009061.1:g.28767G>A , LRG_275:g.28767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*204-56G>A	ENSP00000501161.2:n.*204-56G>A
ENST00000710286.1:c.2221-56G>A	ENSP00000518176.1:n.2221-56G>A
ENST00000673903.1:c.1489-56G>A	ENSP00000501257.1:n.1489-56G>A
ENST00000673913.1:c.714-56G>A	ENSP00000501161.1:n.714-56G>A
ENST00000302118.5:c.1864-56G>A MANE Select	ENSP00000303208.5:n.1864-56G>A
ENST00000490692.1:n.2410-56G>A
NM_174936.3:c.1864-56G>A , LRG_275t1:c.1864-56G>A	NP_777596.2:n.1864-56G>A
NR_110451.1:n.1471-56G>A
XM_011541193.1:c.985-56G>A	XP_011539495.1:n.985-56G>A
NM_174936.4:c.1864-56G>A MANE Select	NP_777596.2:n.1864-56G>A
NR_110451.2:n.1471-56G>A