Canonical Allele Identifier: CA417960537

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 919283
• ClinVar RCV Id: RCV001177382
• dbSNP Id: rs1453831826
• gnomAD v2: 1-55527145-G-A
• gnomAD v4: 1-55061472-G-A
• MyVariant Identifiers: chr1:g.55527145G>A (hg19) ; chr1:g.55061472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061472G>A , CM000663.2:g.55061472G>A	GRCh38
NC_000001.10:g.55527145G>A , CM000663.1:g.55527145G>A	GRCh37
NC_000001.9:g.55299733G>A	NCBI36
NG_009061.1:g.26926G>A , LRG_275:g.26926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*119G>A	ENSP00000501161.2:n.*119G>A
ENST00000710286.1:c.2136G>A	ENSP00000518176.1:p.Glu712=
ENST00000673903.1:c.1404G>A	ENSP00000501257.1:p.Glu468=
ENST00000673913.1:c.629G>A	ENSP00000501161.1:n.629G>A
ENST00000302118.5:c.1779G>A MANE Select	ENSP00000303208.5:p.Glu593=
ENST00000490692.1:n.2325G>A
NM_174936.3:c.1779G>A , LRG_275t1:c.1779G>A	NP_777596.2:p.Glu593=
NR_110451.1:n.1386G>A
XM_011541193.1:c.900G>A	XP_011539495.1:p.Glu300=
NM_174936.4:c.1779G>A MANE Select	NP_777596.2:p.Glu593=
NR_110451.2:n.1386G>A