Canonical Allele Identifier: CA340479746

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55525196C>T (hg19) ; chr1:g.55059523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059523C>T , CM000663.2:g.55059523C>T	GRCh38
NC_000001.10:g.55525196C>T , CM000663.1:g.55525196C>T	GRCh37
NC_000001.9:g.55297784C>T	NCBI36
NG_009061.1:g.24977C>T , LRG_275:g.24977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1541C>T	ENSP00000501161.2:p.Ala514Val
ENST00000710286.1:c.1898C>T	ENSP00000518176.1:p.Ala633Val
ENST00000673903.1:c.1166C>T	ENSP00000501257.1:p.Ala389Val
ENST00000673913.1:c.281C>T	ENSP00000501161.1:p.Ala94Val
ENST00000302118.5:c.1541C>T MANE Select	ENSP00000303208.5:p.Ala514Val
ENST00000490692.1:n.2227+876C>T
NM_174936.3:c.1541C>T , LRG_275t1:c.1541C>T	NP_777596.2:p.Ala514Val
NR_110451.1:n.1148C>T
XM_011541193.1:c.662C>T	XP_011539495.1:p.Ala221Val
NM_174936.4:c.1541C>T MANE Select	NP_777596.2:p.Ala514Val
NR_110451.2:n.1148C>T