Canonical Allele Identifier: CA340479759

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525198T>G (hg19) ; chr1:g.55059525T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059525T>G , CM000663.2:g.55059525T>G	GRCh38
NC_000001.10:g.55525198T>G , CM000663.1:g.55525198T>G	GRCh37
NC_000001.9:g.55297786T>G	NCBI36
NG_009061.1:g.24979T>G , LRG_275:g.24979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1543T>G	ENSP00000501161.2:p.Phe515Val
ENST00000710286.1:c.1900T>G	ENSP00000518176.1:p.Phe634Val
ENST00000673903.1:c.1168T>G	ENSP00000501257.1:p.Phe390Val
ENST00000673913.1:c.283T>G	ENSP00000501161.1:p.Phe95Val
ENST00000302118.5:c.1543T>G MANE Select	ENSP00000303208.5:p.Phe515Val
ENST00000490692.1:n.2227+878T>G
NM_174936.3:c.1543T>G , LRG_275t1:c.1543T>G	NP_777596.2:p.Phe515Val
NR_110451.1:n.1150T>G
XM_011541193.1:c.664T>G	XP_011539495.1:p.Phe222Val
NM_174936.4:c.1543T>G MANE Select	NP_777596.2:p.Phe515Val
NR_110451.2:n.1150T>G