Canonical Allele Identifier: CA737007206

Gene: PCSK9

Linked Data

• dbSNP Id: rs557622245
• gnomAD v3: 1-55063755-C-G
• gnomAD v4: 1-55063755-C-G
• MyVariant Identifiers: chr1:g.55529428C>G (hg19) ; chr1:g.55063755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063755C>G , CM000663.2:g.55063755C>G	GRCh38
NC_000001.10:g.55529428C>G , CM000663.1:g.55529428C>G	GRCh37
NC_000001.9:g.55302016C>G	NCBI36
NG_009061.1:g.29209C>G , LRG_275:g.29209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*590C>G	ENSP00000501161.2:n.*590C>G
ENST00000710286.1:c.*171C>G	ENSP00000518176.1:n.*171C>G
ENST00000673903.1:c.*171C>G	ENSP00000501257.1:n.*171C>G
ENST00000302118.5:c.*171C>G MANE Select	ENSP00000303208.5:n.*171C>G
ENST00000490692.1:n.2796C>G
NM_174936.3:c.*171C>G , LRG_275t1:c.*171C>G	NP_777596.2:n.*171C>G
NR_110451.1:n.1857C>G
XM_011541193.1:c.*171C>G	XP_011539495.1:n.*171C>G
NM_174936.4:c.*171C>G MANE Select	NP_777596.2:n.*171C>G
NR_110451.2:n.1857C>G