Canonical Allele Identifier: CA340480873

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063538-G-A
• MyVariant Identifiers: chr1:g.55529211G>A (hg19) ; chr1:g.55063538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063538G>A , CM000663.2:g.55063538G>A	GRCh38
NC_000001.10:g.55529211G>A , CM000663.1:g.55529211G>A	GRCh37
NC_000001.9:g.55301799G>A	NCBI36
NG_009061.1:g.28992G>A , LRG_275:g.28992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*373G>A	ENSP00000501161.2:n.*373G>A
ENST00000710286.1:c.2390G>A	ENSP00000518176.1:p.Cys797Tyr
ENST00000673903.1:c.1658G>A	ENSP00000501257.1:p.Cys553Tyr
ENST00000302118.5:c.2033G>A MANE Select	ENSP00000303208.5:p.Cys678Tyr
ENST00000490692.1:n.2579G>A
NM_174936.3:c.2033G>A , LRG_275t1:c.2033G>A	NP_777596.2:p.Cys678Tyr
NR_110451.1:n.1640G>A
XM_011541193.1:c.1154G>A	XP_011539495.1:p.Cys385Tyr
NM_174936.4:c.2033G>A MANE Select	NP_777596.2:p.Cys678Tyr
NR_110451.2:n.1640G>A