Canonical Allele Identifier: CA417960718

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3074716
• ClinVar RCV Id: RCV004014250
• dbSNP Id: rs1644779256
• MyVariant Identifiers: chr1:g.55529236G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063563G>A , CM000663.2:g.55063563G>A	GRCh38
NC_000001.10:g.55529236G>A , CM000663.1:g.55529236G>A	GRCh37
NC_000001.9:g.55301824G>A	NCBI36
NG_009061.1:g.29017G>A , LRG_275:g.29017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*398G>A	ENSP00000501161.2:n.*398G>A
ENST00000710286.1:c.2415G>A	ENSP00000518176.1:p.Gln805=
ENST00000673903.1:c.1683G>A	ENSP00000501257.1:p.Gln561=
ENST00000302118.5:c.2058G>A MANE Select	ENSP00000303208.5:p.Gln686=
ENST00000490692.1:n.2604G>A
NM_174936.3:c.2058G>A , LRG_275t1:c.2058G>A	NP_777596.2:p.Gln686=
NR_110451.1:n.1665G>A
XM_011541193.1:c.1179G>A	XP_011539495.1:p.Gln393=
NM_174936.4:c.2058G>A MANE Select	NP_777596.2:p.Gln686=
NR_110451.2:n.1665G>A