Canonical Allele Identifier: CA417960462

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 921960
• ClinVar RCV Id: RCV001181717
• dbSNP Id: rs1570308726
• gnomAD v4: 1-55059650-C-A
• MyVariant Identifiers: chr1:g.55525323C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059650C>A , CM000663.2:g.55059650C>A	GRCh38
NC_000001.10:g.55525323C>A , CM000663.1:g.55525323C>A	GRCh37
NC_000001.9:g.55297911C>A	NCBI36
NG_009061.1:g.25104C>A , LRG_275:g.25104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1668C>A	ENSP00000501161.2:p.Gly556=
ENST00000710286.1:c.2025C>A	ENSP00000518176.1:p.Gly675=
ENST00000673903.1:c.1293C>A	ENSP00000501257.1:p.Gly431=
ENST00000673913.1:c.408C>A	ENSP00000501161.1:p.Gly136=
ENST00000302118.5:c.1668C>A MANE Select	ENSP00000303208.5:p.Gly556=
ENST00000490692.1:n.2227+1003C>A
NM_174936.3:c.1668C>A , LRG_275t1:c.1668C>A	NP_777596.2:p.Gly556=
NR_110451.1:n.1275C>A
XM_011541193.1:c.789C>A	XP_011539495.1:p.Gly263=
NM_174936.4:c.1668C>A MANE Select	NP_777596.2:p.Gly556=
NR_110451.2:n.1275C>A