Canonical Allele Identifier: CA340479927

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059571-C-G
• MyVariant Identifiers: chr1:g.55525244C>G (hg19) ; chr1:g.55059571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059571C>G , CM000663.2:g.55059571C>G	GRCh38
NC_000001.10:g.55525244C>G , CM000663.1:g.55525244C>G	GRCh37
NC_000001.9:g.55297832C>G	NCBI36
NG_009061.1:g.25025C>G , LRG_275:g.25025C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1589C>G	ENSP00000501161.2:p.Pro530Arg
ENST00000710286.1:c.1946C>G	ENSP00000518176.1:p.Pro649Arg
ENST00000673903.1:c.1214C>G	ENSP00000501257.1:p.Pro405Arg
ENST00000673913.1:c.329C>G	ENSP00000501161.1:p.Pro110Arg
ENST00000302118.5:c.1589C>G MANE Select	ENSP00000303208.5:p.Pro530Arg
ENST00000490692.1:n.2227+924C>G
NM_174936.3:c.1589C>G , LRG_275t1:c.1589C>G	NP_777596.2:p.Pro530Arg
NR_110451.1:n.1196C>G
XM_011541193.1:c.710C>G	XP_011539495.1:p.Pro237Arg
NM_174936.4:c.1589C>G MANE Select	NP_777596.2:p.Pro530Arg
NR_110451.2:n.1196C>G