Canonical Allele Identifier: CA340478874

Gene: PCSK9

Linked Data

• dbSNP Id: rs1219469384
• gnomAD v2: 1-55524231-A-G
• gnomAD v4: 1-55058558-A-G
• MyVariant Identifiers: chr1:g.55524231A>G (hg19) ; chr1:g.55058558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058558A>G , CM000663.2:g.55058558A>G	GRCh38
NC_000001.10:g.55524231A>G , CM000663.1:g.55524231A>G	GRCh37
NC_000001.9:g.55296819A>G	NCBI36
NG_009061.1:g.24012A>G , LRG_275:g.24012A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.1414A>G	ENSP00000501161.2:p.Thr472Ala
ENST00000710286.1:c.1771A>G	ENSP00000518176.1:p.Thr591Ala
ENST00000673903.1:c.1039A>G	ENSP00000501257.1:p.Thr347Ala
ENST00000673913.1:c.154A>G	ENSP00000501161.1:p.Thr52Ala
ENST00000302118.5:c.1414A>G MANE Select	ENSP00000303208.5:p.Thr472Ala
ENST00000490692.1:n.2138A>G
NM_174936.3:c.1414A>G , LRG_275t1:c.1414A>G	NP_777596.2:p.Thr472Ala
NR_110451.1:n.1021A>G
XM_011541193.1:c.535A>G	XP_011539495.1:p.Thr179Ala
NM_174936.4:c.1414A>G MANE Select	NP_777596.2:p.Thr472Ala
NR_110451.2:n.1021A>G