Canonical Allele Identifier: CA417960715

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 790219
• ClinVar RCV Id: RCV001189852 ; RCV001430489
• dbSNP Id: rs1490853919
• gnomAD v4: 1-55063560-G-A
• MyVariant Identifiers: chr1:g.55529233G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063560G>A , CM000663.2:g.55063560G>A	GRCh38
NC_000001.10:g.55529233G>A , CM000663.1:g.55529233G>A	GRCh37
NC_000001.9:g.55301821G>A	NCBI36
NG_009061.1:g.29014G>A , LRG_275:g.29014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*395G>A	ENSP00000501161.2:n.*395G>A
ENST00000710286.1:c.2412G>A	ENSP00000518176.1:p.Ala804=
ENST00000673903.1:c.1680G>A	ENSP00000501257.1:p.Ala560=
ENST00000302118.5:c.2055G>A MANE Select	ENSP00000303208.5:p.Ala685=
ENST00000490692.1:n.2601G>A
NM_174936.3:c.2055G>A , LRG_275t1:c.2055G>A	NP_777596.2:p.Ala685=
NR_110451.1:n.1662G>A
XM_011541193.1:c.1176G>A	XP_011539495.1:p.Ala392=
NM_174936.4:c.2055G>A MANE Select	NP_777596.2:p.Ala685=
NR_110451.2:n.1662G>A