Canonical Allele Identifier: CA340480782

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 921582
• ClinVar RCV Id: RCV001181038 ; RCV001876015 ; RCV003163416
• dbSNP Id: rs1325251210
• gnomAD v4: 1-55063492-A-G
• MyVariant Identifiers: chr1:g.55529165A>G (hg19) ; chr1:g.55063492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063492A>G , CM000663.2:g.55063492A>G	GRCh38
NC_000001.10:g.55529165A>G , CM000663.1:g.55529165A>G	GRCh37
NC_000001.9:g.55301753A>G	NCBI36
NG_009061.1:g.28946A>G , LRG_275:g.28946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*327A>G	ENSP00000501161.2:n.*327A>G
ENST00000710286.1:c.2344A>G	ENSP00000518176.1:p.Thr782Ala
ENST00000673903.1:c.1612A>G	ENSP00000501257.1:p.Thr538Ala
ENST00000673913.1:c.837A>G	ENSP00000501161.1:n.837A>G
ENST00000302118.5:c.1987A>G MANE Select	ENSP00000303208.5:p.Thr663Ala
ENST00000490692.1:n.2533A>G
NM_174936.3:c.1987A>G , LRG_275t1:c.1987A>G	NP_777596.2:p.Thr663Ala
NR_110451.1:n.1594A>G
XM_011541193.1:c.1108A>G	XP_011539495.1:p.Thr370Ala
NM_174936.4:c.1987A>G MANE Select	NP_777596.2:p.Thr663Ala
NR_110451.2:n.1594A>G