Canonical Allele Identifier: CA340480350

Gene: PCSK9

Linked Data

• COSMIC: COSM4909947
• MyVariant Identifiers: chr1:g.55527146G>A (hg19) ; chr1:g.55061473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061473G>A , CM000663.2:g.55061473G>A	GRCh38
NC_000001.10:g.55527146G>A , CM000663.1:g.55527146G>A	GRCh37
NC_000001.9:g.55299734G>A	NCBI36
NG_009061.1:g.26927G>A , LRG_275:g.26927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*120G>A	ENSP00000501161.2:n.*120G>A
ENST00000710286.1:c.2137G>A	ENSP00000518176.1:p.Ala713Thr
ENST00000673903.1:c.1405G>A	ENSP00000501257.1:p.Ala469Thr
ENST00000673913.1:c.630G>A	ENSP00000501161.1:n.630G>A
ENST00000302118.5:c.1780G>A MANE Select	ENSP00000303208.5:p.Ala594Thr
ENST00000490692.1:n.2326G>A
NM_174936.3:c.1780G>A , LRG_275t1:c.1780G>A	NP_777596.2:p.Ala594Thr
NR_110451.1:n.1387G>A
XM_011541193.1:c.901G>A	XP_011539495.1:p.Ala301Thr
NM_174936.4:c.1780G>A MANE Select	NP_777596.2:p.Ala594Thr
NR_110451.2:n.1387G>A