Canonical Allele Identifier: CA037961

Gene: PCSK9

Linked Data

• dbSNP Id: rs756504747
• ExAC: 1:55525211 G / A
• gnomAD v4: 1-55059538-G-A
• MyVariant Identifiers: chr1:g.55525211G>A (hg19) ; chr1:g.55059538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059538G>A , CM000663.2:g.55059538G>A	GRCh38
NC_000001.10:g.55525211G>A , CM000663.1:g.55525211G>A	GRCh37
NC_000001.9:g.55297799G>A	NCBI36
NG_009061.1:g.24992G>A , LRG_275:g.24992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1556G>A	ENSP00000501161.2:p.Gly519Asp
ENST00000710286.1:c.1913G>A	ENSP00000518176.1:p.Gly638Asp
ENST00000673903.1:c.1181G>A	ENSP00000501257.1:p.Gly394Asp
ENST00000673913.1:c.296G>A	ENSP00000501161.1:p.Gly99Asp
ENST00000302118.5:c.1556G>A MANE Select	ENSP00000303208.5:p.Gly519Asp
ENST00000490692.1:n.2227+891G>A
NM_174936.3:c.1556G>A , LRG_275t1:c.1556G>A	NP_777596.2:p.Gly519Asp
NR_110451.1:n.1163G>A
XM_011541193.1:c.677G>A	XP_011539495.1:p.Gly226Asp
NM_174936.4:c.1556G>A MANE Select	NP_777596.2:p.Gly519Asp
NR_110451.2:n.1163G>A