Canonical Allele Identifier: CA417960719

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529239C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063566C>A , CM000663.2:g.55063566C>A	GRCh38
NC_000001.10:g.55529239C>A , CM000663.1:g.55529239C>A	GRCh37
NC_000001.9:g.55301827C>A	NCBI36
NG_009061.1:g.29020C>A , LRG_275:g.29020C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*401C>A	ENSP00000501161.2:n.*401C>A
ENST00000710286.1:c.2418C>A	ENSP00000518176.1:p.Ala806=
ENST00000673903.1:c.1686C>A	ENSP00000501257.1:p.Ala562=
ENST00000302118.5:c.2061C>A MANE Select	ENSP00000303208.5:p.Ala687=
ENST00000490692.1:n.2607C>A
NM_174936.3:c.2061C>A , LRG_275t1:c.2061C>A	NP_777596.2:p.Ala687=
NR_110451.1:n.1668C>A
XM_011541193.1:c.1182C>A	XP_011539495.1:p.Ala394=
NM_174936.4:c.2061C>A MANE Select	NP_777596.2:p.Ala687=
NR_110451.2:n.1668C>A