Canonical Allele Identifier: CA340479980

Gene: PCSK9

Linked Data

• dbSNP Id: rs1223085316
• gnomAD v2: 1-55525267-A-G
• gnomAD v4: 1-55059594-A-G
• MyVariant Identifiers: chr1:g.55525267A>G (hg19) ; chr1:g.55059594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059594A>G , CM000663.2:g.55059594A>G	GRCh38
NC_000001.10:g.55525267A>G , CM000663.1:g.55525267A>G	GRCh37
NC_000001.9:g.55297855A>G	NCBI36
NG_009061.1:g.25048A>G , LRG_275:g.25048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1612A>G	ENSP00000501161.2:p.Thr538Ala
ENST00000710286.1:c.1969A>G	ENSP00000518176.1:p.Thr657Ala
ENST00000673903.1:c.1237A>G	ENSP00000501257.1:p.Thr413Ala
ENST00000673913.1:c.352A>G	ENSP00000501161.1:p.Thr118Ala
ENST00000302118.5:c.1612A>G MANE Select	ENSP00000303208.5:p.Thr538Ala
ENST00000490692.1:n.2227+947A>G
NM_174936.3:c.1612A>G , LRG_275t1:c.1612A>G	NP_777596.2:p.Thr538Ala
NR_110451.1:n.1219A>G
XM_011541193.1:c.733A>G	XP_011539495.1:p.Thr245Ala
NM_174936.4:c.1612A>G MANE Select	NP_777596.2:p.Thr538Ala
NR_110451.2:n.1219A>G