Canonical Allele Identifier: CA340480428

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061509-C-A
• MyVariant Identifiers: chr1:g.55527182C>A (hg19) ; chr1:g.55061509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061509C>A , CM000663.2:g.55061509C>A	GRCh38
NC_000001.10:g.55527182C>A , CM000663.1:g.55527182C>A	GRCh37
NC_000001.9:g.55299770C>A	NCBI36
NG_009061.1:g.26963C>A , LRG_275:g.26963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*156C>A	ENSP00000501161.2:n.*156C>A
ENST00000710286.1:c.2173C>A	ENSP00000518176.1:p.Leu725Met
ENST00000673903.1:c.1441C>A	ENSP00000501257.1:p.Leu481Met
ENST00000673913.1:c.666C>A	ENSP00000501161.1:n.666C>A
ENST00000302118.5:c.1816C>A MANE Select	ENSP00000303208.5:p.Leu606Met
ENST00000490692.1:n.2362C>A
NM_174936.3:c.1816C>A , LRG_275t1:c.1816C>A	NP_777596.2:p.Leu606Met
NR_110451.1:n.1423C>A
XM_011541193.1:c.937C>A	XP_011539495.1:p.Leu313Met
NM_174936.4:c.1816C>A MANE Select	NP_777596.2:p.Leu606Met
NR_110451.2:n.1423C>A