Canonical Allele Identifier: CA340480525

Gene: PCSK9

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*201C>A	ENSP00000501161.2:n.*201C>A
ENST00000710286.1:c.2218C>A	ENSP00000518176.1:p.Gln740Lys
ENST00000673903.1:c.1486C>A	ENSP00000501257.1:p.Gln496Lys
ENST00000673913.1:c.711C>A	ENSP00000501161.1:n.711C>A
ENST00000302118.5:c.1861C>A MANE Select	ENSP00000303208.5:p.Gln621Lys
ENST00000490692.1:n.2407C>A
NM_174936.3:c.1861C>A , LRG_275t1:c.1861C>A	NP_777596.2:p.Gln621Lys
NR_110451.1:n.1468C>A
XM_011541193.1:c.982C>A	XP_011539495.1:p.Gln328Lys
NM_174936.4:c.1861C>A MANE Select	NP_777596.2:p.Gln621Lys
NR_110451.2:n.1468C>A