Canonical Allele Identifier: CA340480644

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529090C>A (hg19) ; chr1:g.55063417C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063417C>A , CM000663.2:g.55063417C>A	GRCh38
NC_000001.10:g.55529090C>A , CM000663.1:g.55529090C>A	GRCh37
NC_000001.9:g.55301678C>A	NCBI36
NG_009061.1:g.28871C>A , LRG_275:g.28871C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*252C>A	ENSP00000501161.2:n.*252C>A
ENST00000710286.1:c.2269C>A	ENSP00000518176.1:p.Leu757Ile
ENST00000673903.1:c.1537C>A	ENSP00000501257.1:p.Leu513Ile
ENST00000673913.1:c.762C>A	ENSP00000501161.1:n.762C>A
ENST00000302118.5:c.1912C>A MANE Select	ENSP00000303208.5:p.Leu638Ile
ENST00000490692.1:n.2458C>A
NM_174936.3:c.1912C>A , LRG_275t1:c.1912C>A	NP_777596.2:p.Leu638Ile
NR_110451.1:n.1519C>A
XM_011541193.1:c.1033C>A	XP_011539495.1:p.Leu345Ile
NM_174936.4:c.1912C>A MANE Select	NP_777596.2:p.Leu638Ile
NR_110451.2:n.1519C>A