Canonical Allele Identifier: CA340480381

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3069598
• ClinVar RCV Id: RCV004008142
• dbSNP Id: rs1644758607
• MyVariant Identifiers: chr1:g.55527159C>A (hg19) ; chr1:g.55061486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061486C>A , CM000663.2:g.55061486C>A	GRCh38
NC_000001.10:g.55527159C>A , CM000663.1:g.55527159C>A	GRCh37
NC_000001.9:g.55299747C>A	NCBI36
NG_009061.1:g.26940C>A , LRG_275:g.26940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*133C>A	ENSP00000501161.2:n.*133C>A
ENST00000710286.1:c.2150C>A	ENSP00000518176.1:p.Ala717Asp
ENST00000673903.1:c.1418C>A	ENSP00000501257.1:p.Ala473Asp
ENST00000673913.1:c.643C>A	ENSP00000501161.1:n.643C>A
ENST00000302118.5:c.1793C>A MANE Select	ENSP00000303208.5:p.Ala598Asp
ENST00000490692.1:n.2339C>A
NM_174936.3:c.1793C>A , LRG_275t1:c.1793C>A	NP_777596.2:p.Ala598Asp
NR_110451.1:n.1400C>A
XM_011541193.1:c.914C>A	XP_011539495.1:p.Ala305Asp
NM_174936.4:c.1793C>A MANE Select	NP_777596.2:p.Ala598Asp
NR_110451.2:n.1400C>A