Canonical Allele Identifier: CA340480365

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061479-A-G
• MyVariant Identifiers: chr1:g.55527152A>G (hg19) ; chr1:g.55061479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061479A>G , CM000663.2:g.55061479A>G	GRCh38
NC_000001.10:g.55527152A>G , CM000663.1:g.55527152A>G	GRCh37
NC_000001.9:g.55299740A>G	NCBI36
NG_009061.1:g.26933A>G , LRG_275:g.26933A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*126A>G	ENSP00000501161.2:n.*126A>G
ENST00000710286.1:c.2143A>G	ENSP00000518176.1:p.Ile715Val
ENST00000673903.1:c.1411A>G	ENSP00000501257.1:p.Ile471Val
ENST00000673913.1:c.636A>G	ENSP00000501161.1:n.636A>G
ENST00000302118.5:c.1786A>G MANE Select	ENSP00000303208.5:p.Ile596Val
ENST00000490692.1:n.2332A>G
NM_174936.3:c.1786A>G , LRG_275t1:c.1786A>G	NP_777596.2:p.Ile596Val
NR_110451.1:n.1393A>G
XM_011541193.1:c.907A>G	XP_011539495.1:p.Ile303Val
NM_174936.4:c.1786A>G MANE Select	NP_777596.2:p.Ile596Val
NR_110451.2:n.1393A>G