Canonical Allele Identifier: CA340480342

Gene: PCSK9

Linked Data

• gnomAD v2: 1-55527143-G-A
• MyVariant Identifiers: chr1:g.55527143G>A (hg19) ; chr1:g.55527143_55527147delinsAAGGC (hg19) ; chr1:g.55061470G>A (hg38) ; chr1:g.55061470_55061474delinsAAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061470G>A , CM000663.2:g.55061470G>A	GRCh38
NC_000001.10:g.55527143G>A , CM000663.1:g.55527143G>A	GRCh37
NC_000001.9:g.55299731G>A	NCBI36
NG_009061.1:g.26924G>A , LRG_275:g.26924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*117G>A	ENSP00000501161.2:n.*117G>A
ENST00000710286.1:c.2134G>A	ENSP00000518176.1:p.Glu712Lys
ENST00000673903.1:c.1402G>A	ENSP00000501257.1:p.Glu468Lys
ENST00000673913.1:c.627G>A	ENSP00000501161.1:n.627G>A
ENST00000302118.5:c.1777G>A MANE Select	ENSP00000303208.5:p.Glu593Lys
ENST00000490692.1:n.2323G>A
NM_174936.3:c.1777G>A , LRG_275t1:c.1777G>A	NP_777596.2:p.Glu593Lys
NR_110451.1:n.1384G>A
XM_011541193.1:c.898G>A	XP_011539495.1:p.Glu300Lys
NM_174936.4:c.1777G>A MANE Select	NP_777596.2:p.Glu593Lys
NR_110451.2:n.1384G>A