Canonical Allele Identifier: CA340480865

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063534-A-G
• MyVariant Identifiers: chr1:g.55529207A>G (hg19) ; chr1:g.55063534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063534A>G , CM000663.2:g.55063534A>G	GRCh38
NC_000001.10:g.55529207A>G , CM000663.1:g.55529207A>G	GRCh37
NC_000001.9:g.55301795A>G	NCBI36
NG_009061.1:g.28988A>G , LRG_275:g.28988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*369A>G	ENSP00000501161.2:n.*369A>G
ENST00000710286.1:c.2386A>G	ENSP00000518176.1:p.Ile796Val
ENST00000673903.1:c.1654A>G	ENSP00000501257.1:p.Ile552Val
ENST00000302118.5:c.2029A>G MANE Select	ENSP00000303208.5:p.Ile677Val
ENST00000490692.1:n.2575A>G
NM_174936.3:c.2029A>G , LRG_275t1:c.2029A>G	NP_777596.2:p.Ile677Val
NR_110451.1:n.1636A>G
XM_011541193.1:c.1150A>G	XP_011539495.1:p.Ile384Val
NM_174936.4:c.2029A>G MANE Select	NP_777596.2:p.Ile677Val
NR_110451.2:n.1636A>G