Canonical Allele Identifier: CA340480426

Gene: PCSK9

Linked Data

• MyVariant Identifiers: chr1:g.55527180G>A (hg19) ; chr1:g.55061507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061507G>A , CM000663.2:g.55061507G>A	GRCh38
NC_000001.10:g.55527180G>A , CM000663.1:g.55527180G>A	GRCh37
NC_000001.9:g.55299768G>A	NCBI36
NG_009061.1:g.26961G>A , LRG_275:g.26961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*154G>A	ENSP00000501161.2:n.*154G>A
ENST00000710286.1:c.2171G>A	ENSP00000518176.1:p.Gly724Asp
ENST00000673903.1:c.1439G>A	ENSP00000501257.1:p.Gly480Asp
ENST00000673913.1:c.664G>A	ENSP00000501161.1:n.664G>A
ENST00000302118.5:c.1814G>A MANE Select	ENSP00000303208.5:p.Gly605Asp
ENST00000490692.1:n.2360G>A
NM_174936.3:c.1814G>A , LRG_275t1:c.1814G>A	NP_777596.2:p.Gly605Asp
NR_110451.1:n.1421G>A
XM_011541193.1:c.935G>A	XP_011539495.1:p.Gly312Asp
NM_174936.4:c.1814G>A MANE Select	NP_777596.2:p.Gly605Asp
NR_110451.2:n.1421G>A