Canonical Allele Identifier: CA340480791

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55529169C>G (hg19) ; chr1:g.55063496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063496C>G , CM000663.2:g.55063496C>G	GRCh38
NC_000001.10:g.55529169C>G , CM000663.1:g.55529169C>G	GRCh37
NC_000001.9:g.55301757C>G	NCBI36
NG_009061.1:g.28950C>G , LRG_275:g.28950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*331C>G	ENSP00000501161.2:n.*331C>G
ENST00000710286.1:c.2348C>G	ENSP00000518176.1:p.Thr783Arg
ENST00000673903.1:c.1616C>G	ENSP00000501257.1:p.Thr539Arg
ENST00000673913.1:c.841C>G	ENSP00000501161.1:n.841C>G
ENST00000302118.5:c.1991C>G MANE Select	ENSP00000303208.5:p.Thr664Arg
ENST00000490692.1:n.2537C>G
NM_174936.3:c.1991C>G , LRG_275t1:c.1991C>G	NP_777596.2:p.Thr664Arg
NR_110451.1:n.1598C>G
XM_011541193.1:c.1112C>G	XP_011539495.1:p.Thr371Arg
NM_174936.4:c.1991C>G MANE Select	NP_777596.2:p.Thr664Arg
NR_110451.2:n.1598C>G