Canonical Allele Identifier: CA340480570

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063383-C-G
• MyVariant Identifiers: chr1:g.55529056C>G (hg19) ; chr1:g.55063383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063383C>G , CM000663.2:g.55063383C>G	GRCh38
NC_000001.10:g.55529056C>G , CM000663.1:g.55529056C>G	GRCh37
NC_000001.9:g.55301644C>G	NCBI36
NG_009061.1:g.28837C>G , LRG_275:g.28837C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*218C>G	ENSP00000501161.2:n.*218C>G
ENST00000710286.1:c.2235C>G	ENSP00000518176.1:p.Cys745Trp
ENST00000673903.1:c.1503C>G	ENSP00000501257.1:p.Cys501Trp
ENST00000673913.1:c.728C>G	ENSP00000501161.1:n.728C>G
ENST00000302118.5:c.1878C>G MANE Select	ENSP00000303208.5:p.Cys626Trp
ENST00000490692.1:n.2424C>G
NM_174936.3:c.1878C>G , LRG_275t1:c.1878C>G	NP_777596.2:p.Cys626Trp
NR_110451.1:n.1485C>G
XM_011541193.1:c.999C>G	XP_011539495.1:p.Cys333Trp
NM_174936.4:c.1878C>G MANE Select	NP_777596.2:p.Cys626Trp
NR_110451.2:n.1485C>G