Canonical Allele Identifier: CA417960289

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 629392
• ClinVar RCV Id: RCV000774097
• dbSNP Id: rs1357691724
• MyVariant Identifiers: chr1:g.55524230C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058557C>A , CM000663.2:g.55058557C>A	GRCh38
NC_000001.10:g.55524230C>A , CM000663.1:g.55524230C>A	GRCh37
NC_000001.9:g.55296818C>A	NCBI36
NG_009061.1:g.24011C>A , LRG_275:g.24011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1413C>A	ENSP00000501161.2:p.Ala471=
ENST00000710286.1:c.1770C>A	ENSP00000518176.1:p.Ala590=
ENST00000673903.1:c.1038C>A	ENSP00000501257.1:p.Ala346=
ENST00000673913.1:c.153C>A	ENSP00000501161.1:p.Ala51=
ENST00000302118.5:c.1413C>A MANE Select	ENSP00000303208.5:p.Ala471=
ENST00000490692.1:n.2137C>A
NM_174936.3:c.1413C>A , LRG_275t1:c.1413C>A	NP_777596.2:p.Ala471=
NR_110451.1:n.1020C>A
XM_011541193.1:c.534C>A	XP_011539495.1:p.Ala178=
NM_174936.4:c.1413C>A MANE Select	NP_777596.2:p.Ala471=
NR_110451.2:n.1020C>A