Canonical Allele Identifier: CA340480482

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1781077
• ClinVar RCV Id: RCV002412764 ; RCV004007371
• dbSNP Id: rs1229958448
• gnomAD v4: 1-55061531-A-G
• MyVariant Identifiers: chr1:g.55527204A>G (hg19) ; chr1:g.55061531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061531A>G , CM000663.2:g.55061531A>G	GRCh38
NC_000001.10:g.55527204A>G , CM000663.1:g.55527204A>G	GRCh37
NC_000001.9:g.55299792A>G	NCBI36
NG_009061.1:g.26985A>G , LRG_275:g.26985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*178A>G	ENSP00000501161.2:n.*178A>G
ENST00000710286.1:c.2195A>G	ENSP00000518176.1:p.His732Arg
ENST00000673903.1:c.1463A>G	ENSP00000501257.1:p.His488Arg
ENST00000673913.1:c.688A>G	ENSP00000501161.1:n.688A>G
ENST00000302118.5:c.1838A>G MANE Select	ENSP00000303208.5:p.His613Arg
ENST00000490692.1:n.2384A>G
NM_174936.3:c.1838A>G , LRG_275t1:c.1838A>G	NP_777596.2:p.His613Arg
NR_110451.1:n.1445A>G
XM_011541193.1:c.959A>G	XP_011539495.1:p.His320Arg
NM_174936.4:c.1838A>G MANE Select	NP_777596.2:p.His613Arg
NR_110451.2:n.1445A>G