Canonical Allele Identifier: CA038114

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1775974
• ClinVar RCV Id: RCV003605839 ; RCV002398491
• dbSNP Id: rs770916869
• ExAC: 1:55525248 G / A
• gnomAD v4: 1-55059575-G-A
• MyVariant Identifiers: chr1:g.55525248G>A (hg19) ; chr1:g.55059575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059575G>A , CM000663.2:g.55059575G>A	GRCh38
NC_000001.10:g.55525248G>A , CM000663.1:g.55525248G>A	GRCh37
NC_000001.9:g.55297836G>A	NCBI36
NG_009061.1:g.25029G>A , LRG_275:g.25029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1593G>A	ENSP00000501161.2:p.Gln531=
ENST00000710286.1:c.1950G>A	ENSP00000518176.1:p.Gln650=
ENST00000673903.1:c.1218G>A	ENSP00000501257.1:p.Gln406=
ENST00000673913.1:c.333G>A	ENSP00000501161.1:p.Gln111=
ENST00000302118.5:c.1593G>A MANE Select	ENSP00000303208.5:p.Gln531=
ENST00000490692.1:n.2227+928G>A
NM_174936.3:c.1593G>A , LRG_275t1:c.1593G>A	NP_777596.2:p.Gln531=
NR_110451.1:n.1200G>A
XM_011541193.1:c.714G>A	XP_011539495.1:p.Gln238=
NM_174936.4:c.1593G>A MANE Select	NP_777596.2:p.Gln531=
NR_110451.2:n.1200G>A