Canonical Allele Identifier: CA417960433

Gene: PCSK9

Linked Data

• dbSNP Id: rs4480399
• gnomAD v4: 1-55059602-A-G
• MyVariant Identifiers: chr1:g.55525275A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059602A>G , CM000663.2:g.55059602A>G	GRCh38
NC_000001.10:g.55525275A>G , CM000663.1:g.55525275A>G	GRCh37
NC_000001.9:g.55297863A>G	NCBI36
NG_009061.1:g.25056A>G , LRG_275:g.25056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1620A>G	ENSP00000501161.2:p.Pro540=
ENST00000710286.1:c.1977A>G	ENSP00000518176.1:p.Pro659=
ENST00000673903.1:c.1245A>G	ENSP00000501257.1:p.Pro415=
ENST00000673913.1:c.360A>G	ENSP00000501161.1:p.Pro120=
ENST00000302118.5:c.1620A>G MANE Select	ENSP00000303208.5:p.Pro540=
ENST00000490692.1:n.2227+955A>G
NM_174936.3:c.1620A>G , LRG_275t1:c.1620A>G	NP_777596.2:p.Pro540=
NR_110451.1:n.1227A>G
XM_011541193.1:c.741A>G	XP_011539495.1:p.Pro247=
NM_174936.4:c.1620A>G MANE Select	NP_777596.2:p.Pro540=
NR_110451.2:n.1227A>G