Canonical Allele Identifier: CA340480527

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061554-C-G
• MyVariant Identifiers: chr1:g.55527227C>G (hg19) ; chr1:g.55061554C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061554C>G , CM000663.2:g.55061554C>G	GRCh38
NC_000001.10:g.55527227C>G , CM000663.1:g.55527227C>G	GRCh37
NC_000001.9:g.55299815C>G	NCBI36
NG_009061.1:g.27008C>G , LRG_275:g.27008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*201C>G	ENSP00000501161.2:n.*201C>G
ENST00000710286.1:c.2218C>G	ENSP00000518176.1:p.Gln740Glu
ENST00000673903.1:c.1486C>G	ENSP00000501257.1:p.Gln496Glu
ENST00000673913.1:c.711C>G	ENSP00000501161.1:n.711C>G
ENST00000302118.5:c.1861C>G MANE Select	ENSP00000303208.5:p.Gln621Glu
ENST00000490692.1:n.2407C>G
NM_174936.3:c.1861C>G , LRG_275t1:c.1861C>G	NP_777596.2:p.Gln621Glu
NR_110451.1:n.1468C>G
XM_011541193.1:c.982C>G	XP_011539495.1:p.Gln328Glu
NM_174936.4:c.1861C>G MANE Select	NP_777596.2:p.Gln621Glu
NR_110451.2:n.1468C>G