Canonical Allele Identifier: CA340480429

Gene: PCSK9

Linked Data

• dbSNP Id: rs1159691514
• gnomAD v2: 1-55527182-C-G
• gnomAD v4: 1-55061509-C-G
• MyVariant Identifiers: chr1:g.55527182C>G (hg19) ; chr1:g.55061509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061509C>G , CM000663.2:g.55061509C>G	GRCh38
NC_000001.10:g.55527182C>G , CM000663.1:g.55527182C>G	GRCh37
NC_000001.9:g.55299770C>G	NCBI36
NG_009061.1:g.26963C>G , LRG_275:g.26963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*156C>G	ENSP00000501161.2:n.*156C>G
ENST00000710286.1:c.2173C>G	ENSP00000518176.1:p.Leu725Val
ENST00000673903.1:c.1441C>G	ENSP00000501257.1:p.Leu481Val
ENST00000673913.1:c.666C>G	ENSP00000501161.1:n.666C>G
ENST00000302118.5:c.1816C>G MANE Select	ENSP00000303208.5:p.Leu606Val
ENST00000490692.1:n.2362C>G
NM_174936.3:c.1816C>G , LRG_275t1:c.1816C>G	NP_777596.2:p.Leu606Val
NR_110451.1:n.1423C>G
XM_011541193.1:c.937C>G	XP_011539495.1:p.Leu313Val
NM_174936.4:c.1816C>G MANE Select	NP_777596.2:p.Leu606Val
NR_110451.2:n.1423C>G